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Cited by 108Hypothalamic control of reproductive hormonesSexual Differentiation and DisordersHormonal and reproductive studies

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

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Nordenström, A, Ahmed, S F, van den Akker, E, Blair, J, Bonomi, M, Brachet, C, Broersen, L H A, Claahsen-van der Grinten, H L +10 more·2022·European Journal of Endocrinology
DOI 10.1530/eje-22-0073PMC PMC9066594
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Abstract

An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development and Evaluation system. If the evidence was insufficient or lacking, then the conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on the induction of puberty with follicle-stimulation hormone and human chorionic gonadotrophin in hypogonadotropic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommends that pubertal induction or sex hormone replacement to sustain puberty should be cared for by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualised but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions.

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  • The timing of pubertal induction is individualized, with many individuals starting at typical ages (ie, 11 years in girls and 12 years in boys).

    “The timing of pubertal induction is individualized, with many individuals starting at typical ages (ie, 11 years in girls and 12 years in boys) (31)”

    From Approach to the patient with acquired hypothalamic syndrome (2026) · cites this paper as [31]

    The Abstract (page not provided) says pubertal induction should be individualized and considered at 11 years in girls and 12 years in boys. That supports the ages as guidance, but not the claim that many individuals actually start at those ages; the boys’ section describes varied practice instead. (LLM, conf=0.85)

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  1. [2]Marshall WA Tanner JM. Variations in pattern of pubertal changes in girls. Archives of Disease in Childhood 1969 44 291– 303. (10.1136/adc.44.235.291) 5785179 PMC2020314 · DOI · Paper page
  2. [4]Sørensen K Mouritsen A Aksglaede L Hagen CP Mogensen SS Juul A. Recent secular trends in pubertal timing: implications for evaluation and diagnosis of precocious puberty. Hormone Research in Paediatrics 2012 77 137– 145. (10.1159/000336325) 22508036 · DOI · Paper page
  3. [5]Taranger J Engström I Lichtenstein H Svennberg- Redegren I. VI. Somatic pubertal development. Acta Paediatrica 1976 65 (S258) 121– 135. (10.1111/j.1651-2227.1976.tb14766.x) 1066958 · DOI
  4. [6]Biro FM Huang B Crawford PB Lucky AW Striegel-Moore R Barton BA Daniels S. Pubertal correlates in black and white girls. Journal of Pediatrics 2006 148 234– 240. (10.1016/j.jpeds.2005.10.020) 16492435 · DOI · Paper page
  5. [8]Busch AS Hollis B Day FR Sørensen K Aksglaede L Perry JRB Ong KK Juul A Hagen CP. Voice break in boys-temporal relations with other pubertal milestones and likely causal effects of BMI. Human Reproduction 2019 34 1514– 1522. (10.1093/humrep/dez118) 31348498 PMC6688887 · DOI
  6. [9]Bizzarri C Cappa M. Ontogeny of hypothalamus-pituitary gonadal axis and minipuberty: an ongoing debate? Frontiers in Endocrinology 2020 11 187. (10.3389/fendo.2020.00187) PMC7154076 32318025 · DOI
  7. [10]Lanciotti L Cofini M Leonardi A Penta L Esposito S. Up-to-date review about minipuberty and overview on hypothalamic-pituitary-gonadal axis activation in fetal and neonatal life. Frontiers in Endocrinology 2018 9 410. (10.3389/fendo.2018.00410) PMC6070773 30093882 · DOI · Paper page
  8. [12]Papadimitriou DT Chrysis D Nyktari G Zoupanos G Liakou E Papadimitriou A Mastorakos G. Replacement of male mini-puberty. Journal of the Endocrine Society 2019 3 1275– 1282. (10.1210/js.2019-00083) 31240270 PMC6584110 · DOI
  9. [13]Jespersen K Ljubicic ML Johannsen TH Christiansen P Skakkebaek NE Juul A. Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood. European Journal of Endocrinology 2020 183 107– 117. (10.1530/EJE-20-0041) 32422605 · DOI
  10. [14]Aksglaede L Davis SM Ross JL Juul A. Minipuberty in Klinefelter syndrome: current status and future directions. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 2020 184 320– 326. (10.1002/ajmg.c.31794) PMC7413638 32476267 · DOI
  11. [15]Johannsen TH Main KM Ljubicic ML Jensen TK Andersen HR Andersen MS Petersen JH Andersson AM Juul A. Sex differences in reproductive hormones during mini-puberty in infants with normal and disordered sex development. Journal of Clinical Endocrinology and Metabolism 2018 103 3028– 3037. (10.1210/jc.2018-00482) 29917083 · DOI
  12. [16]Ahmed SF Achermann JC Arlt W Balen A Conway G Edwards Z Elford S Hughes IA Izatt L Krone N Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (revised 2015). Clinical Endocrinology 2016 84 771– 788. (10.1111/cen.12857) 26270788 PMC4855619 · DOI
  13. [17]Faure-Conter C Orbach D Fresneau B Verité C Bonneau J Thebaud E Poirée M Thouvenin S Pluchart C Mure PY Disorder of sex development with germ cell tumors: which is uncovered first? Pediatric Blood and Cancer 2020 67 e28169. (10.1002/pbc.28169) 32020769 · DOI
  14. [18]Lucas-Herald AK Bryce J Kyriakou A Ljubicic ML Arlt W Audi L Balsamo A Baronio F Bertelloni S Bettendorf M Gonadectomy in conditions affecting sex development: a registry-based cohort study. European Journal of Endocrinology 2021 184 791– 801. (10.1530/EJE-20-1058) 33780351 · DOI
  15. [19]Mendonca BB Leite MV de Castro M Kino T Elias LL Bachega TA Arnhold IJ Chrousos GP Latronico AC. Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. Journal of Clinical Endocrinology and Metabolism 2002 87 1805– 1809. (10.1210/jcem.87.4.8379) 11932321 · DOI
  16. [20]Young J Xu C Papadakis GE Acierno JS Maione L Hietamäki J Raivio T Pitteloud N. Clinical management of congenital hypogonadotropic hypogonadism. Endocrine Reviews 2019 40 669– 710. (10.1210/er.2018-00116) 30698671 · DOI
  17. [21]Nordenström A Puberty in individuals with a disorder of sex development. Current Opinion in Endocrine and Metabolic Research 2020 14 42– 51. (10.1016/j.coemr.2020.05.004) · DOI
  18. [22]Andrade JGR Fabbri-Scallet H Dos Santos AP Cools M Werner R Hiort O de Mello MP Guerra-Júnior G Maciel-Guerra AT. Clinical findings and follow-up of 46,XY and 45,X/46,XY testicular dysgenesis. Sexual Development 2019 13 171– 177. (10.1159/000504239) 31816618 · DOI
  19. [23]Gabriel Ribeiro de Andrade J Marques-de-Faria AP Fabbri HC de Mello MP Guerra-Júnior G Maciel-Guerra AT. Long-term follow-up of patients with 46,XY partial gonadal dysgenesis reared as males. International Journal of Endocrinology 2014 2014 480724. (10.1155/2014/480724) 25580123 PMC4279723 · DOI
  20. [24]Gomes NL Lerário AM Machado AZ Moraes DR Silva TED Arnhold IJP Batista RL Faria Júnior JAD Costa EF Nishi MY Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. Clinical Endocrinology 2018 89 164– 177. (10.1111/cen.13717) 29668062 · DOI
  21. [25]Ljubicic ML Jørgensen A Acerini C Andrade J Balsamo A Bertelloni S Cools M Cuccaro RT Darendeliler F Flück CE Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis. Journal of Clinical Endocrinology and Metabolism 2019 104 4366– 4381. (10.1210/jc.2018-02752) 31127831 · DOI
  22. [26]Kim YM Oh A Kim KS Yoo HW Choi JH. Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. Annals of Pediatric Endocrinology and Metabolism 2019 24 231– 236. (10.6065/apem.2019.24.4.231) 31905442 PMC6944855 · DOI
  23. [27]Gravholt CH Viuff MH Brun S Stochholm K Andersen NH. Turner syndrome: mechanisms and management. Nature Reviews: Endocrinology 2019 15 601– 614. (10.1038/s41574-019-0224-4) 31213699 · DOI
  24. [29]Chang S Skakkebaek A Davis SM Gravholt CH. Morbidity in Klinefelter syndrome and the effect of testosterone treatment. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 2020 184 344– 355. (10.1002/ajmg.c.31798) PMC7413637 32496001 · DOI
  25. [30]Zitzmann M Aksglaede L Corona G Isidori AM Juul A T’Sjoen G Kliesch S D’Hauwers K Toppari J Słowikowska-Hilczer J European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology. Andrology 2021 9 145– 167. (10.1111/andr.12909) 32959490 · DOI
  26. [31]Boeri L Palmisano F Preto M Sibona M Capogrosso P Franceschelli A Ruiz-Castañé E Sarquella-Geli J Bassas-Arnau L Scroppo FI Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: what expectations do we have in the real-life setting? Andrology 2020 8 680– 687. (10.1111/andr.12767) 31999885 · DOI
  27. [32]Corona G Pizzocaro A Lanfranco F Garolla A Pelliccione F Vignozzi L Ferlin A Foresta C Jannini EA Maggi M Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Human Reproduction Update 2017 23 265– 275. (10.1093/humupd/dmx008) 28379559 · DOI
  28. [33]Chen T Tian L Wu F Xuan X Ma G Tang R Lu J. Clinical and genetic analysis in males with 46,XX disorders of sex development: a reproductive centre experience of 144 cases. Andrologia 2019 51 e13232. (10.1111/and.13232) 30623467 · DOI
  29. [34]Verkauskas G Jaubert F Lortat-Jacob S Malan V Thibaud E Nihoul-Fékété C. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. Journal of Urology 2007 177 726– 731; discussion 731. (10.1016/j.juro.2006.10.003) 17222668 · DOI
  30. [35]Avendaño A Paradisi I Cammarata-Scalisi F Callea M. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review. Hormones 2018 17 197– 204. (10.1007/s42000-018-0013-9) 29858846 · DOI
  31. [36]Marzuki NS Idris FP Kartapradja HD Harahap AR Batubara JRL. Characterising SRD5A2 gene variants in 37 Indonesian patients with 5-alpha-reductase type 2 deficiency. International Journal of Endocrinology 2019 2019 7676341. (10.1155/2019/7676341) 31885560 PMC6914983 · DOI
  32. [37]Hiort O Marshall L Birnbaum W Wünsch L Holterhus PM Döhnert U Werner R. Pubertal development in17beta-hydroxysteroid dehydrogenase type 3. Hormone Research in Paediatrics 2017 87 354– 358. (10.1159/000453613) 27951541 · DOI
  33. [38]Mongan NP Tadokoro-Cuccaro R Bunch T Hughes IA. Androgen insensitivity syndrome. Best Practice and Research: Clinical Endocrinology and Metabolism 2015 29 569– 580. (10.1016/j.beem.2015.04.005) 26303084 · DOI
  34. [39]Herlin MK Petersen MB Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet Journal of Rare Diseases 2020 15 214. (10.1186/s13023-020-01491-9) PMC7439721 32819397 · DOI
  35. [40]Ahmed SF Khwaja O Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU International 2000 85 120– 124. (10.1046/j.1464-410x.2000.00354.x) 10619959 · DOI
  36. [41]Wickman S Sipilä I Ankarberg-Lindgren C Norjavaara E Dunkel L. A specific aromatase inhibitor and potential increase in adult height in boys with delayed puberty: a randomised controlled trial. Lancet 2001 357 1743– 1748. (10.1016/S0140-6736(0004895-9) 11403810 · DOI
  37. [42]McGrath N O’Grady MJ. Aromatase inhibitors for short stature in male children and adolescents. Cochrane Database of Systematic Reviews 2015 CD010888. (10.1002/14651858.CD010888.pub2) PMC9251633 26447646 · DOI
  38. [43]Varimo T Toiviainen-Salo S Raivio T Kerttula L Dunkel L Hero M. Letrozole monotherapy in pre- and early-pubertal boys does not increase adult height. Frontiers in Endocrinology 2019 10 201. (10.3389/fendo.2019.00201) PMC6460933 31024444 · DOI
  39. [44]Papadimitriou DT Dermitzaki E Papagianni M Papaioannou G Papaevangelou V Papadimitriou A. Anastrozole plus leuprorelin in early maturing girls with compromised growth: the ‘GAIL’ study. Journal of Endocrinological Investigation 2016 39 439– 446. (10.1007/s40618-015-0399-z) 26507391 PMC4799269 · DOI
  40. [46]Hero M Varimo T Raivio T. Aromatase inhibitors in puberty. Current Opinion in Endocrine and Metabolic Research 2020 14 37– 41. (10.1016/j.coemr.2020.04.001) · DOI
  41. [48]Johannsen TH Andersson AM Ahmed SF de Rijke YB Greaves RF Hartmann MF Hiort O Holterhus PM Krone NP Kulle A Peptide hormone analysis in diagnosis and treatment of differences of sex development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions. European Journal of Endocrinology 2020 182 P1– P15. (10.1530/EJE-19-0831) 32268295 · DOI
  42. [49]Albrethsen J Johannsen TH Jørgensen N Frederiksen H Sennels HP Jørgensen HL Fahrenkrug J Petersen JH Linneberg A Nordkap L Evaluation of serum insulin-like factor 3 quantification by LC-MS/MS as a biomarker of Leydig cell function. Journal of Clinical Endocrinology and Metabolism 2020 105 dgaa145. (10.1210/clinem/dgaa145) 32211773 · DOI
  43. [50]Vestergaard ET Schjørring ME Kamperis K Petersen KK Rittig S Juul A Kristensen K Birkebæk NH. The follicle-stimulating hormone (FSH) and luteinizing hormone (LH) response to a gonadotropin-releasing hormone analogue test in healthy prepubertal girls aged 10 months to 6 years. European Journal of Endocrinology 2017 176 747– 753. (10.1530/EJE-17-0042) 28348072 · DOI
  44. [51]Mosbah H Bouvattier C Maione L Trabado S De Filippo G Cartes A Donzeau A Chanson P Brailly-Tabard S Dwyer AA GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty. Human Reproduction 2020 35 2312– 2322. (10.1093/humrep/deaa185) 32862222 · DOI
  45. [52]Ljubicic ML Jespersen K Aksglaede L Hagen CP Petersen JH Andersen HR Linneberg A Main KM Andersson AM Johannsen TH The LH/FSH ratio is not a sex-dimorphic marker after infancy: data from 6417 healthy individuals and 125 patients with differences of sex development. Human Reproduction 2020 35 2323– 2335. (10.1093/humrep/deaa182) 32976602 · DOI
  46. [53]Stanczyk FZ Clarke NJ. Measurement of estradiol – challenges ahead. Journal of Clinical Endocrinology and Metabolism 2014 99 56– 58. (10.1210/jc.2013-2905) 24178793 · DOI
  47. [56]Norjavaara E Ankarberg C Albertsson-Wikland K. Diurnal rhythm of 17 beta-estradiol secretion throughout pubertal development in healthy girls: evaluation by a sensitive radioimmunoassay. Journal of Clinical Endocrinology and Metabolism 1996 81 4095– 4102. (10.1210/jcem.81.11.8923866) 8923866 · DOI
  48. [58]Frederiksen H Johannsen TH Andersen SE Albrethsen J Landersoe SK Petersen JH Andersen AN Vestergaard ET Schorring ME Linneberg A Sex-specific estrogen levels and reference intervals from infancy to late adulthood determined by LC-MS/MS. Journal of Clinical Endocrinology and Metabolism 2020 105 754– 768. (10.1210/clinem/dgz196) PMC7007877 31720688 · DOI · Paper page
  49. [61]Goddings AL Beltz A Peper JS Crone EA Braams BR. Understanding the role of puberty in structural and functional development of the adolescent brain. Journal of Research on Adolescence 2019 29 32– 53. (10.1111/jora.12408) 30869842 · DOI · Paper page
  50. [62]Nordenström A Thyen U. Improving the communication of healthcare professionals with affected children and adolescents. Endocrine Development 2014 27 113– 127. (10.1159/000363636) 25247649 · DOI
  51. [63]Berenbaum SA Effects of early androgens on sex-typed activities and interests in adolescents with congenital adrenal hyperplasia. Hormones and Behavior 1999 35 102– 110. (10.1006/hbeh.1998.1503) 10049608 · DOI
  52. [64]Pasterski VL Geffner ME Brain C Hindmarsh P Brook C Hines M. Prenatal hormones and postnatal socialization by parents as determinants of male-typical toy play in girls with congenital adrenal hyperplasia. Child Development 2005 76 264– 278. (10.1111/j.1467-8624.2005.00843.x) 15693771 · DOI
  53. [65]Wong WI Pasterski V Hindmarsh PC Geffner ME Hines M. Are there parental socialization effects on the sex-typed behavior of individuals with congenital adrenal hyperplasia? Archives of Sexual Behavior 2013 42 381– 391. (10.1007/s10508-012-9997-4) 22810998 · DOI
  54. [66]Hines M Human gender development. Neuroscience and Biobehavioral Reviews 2020 118 89– 96. (10.1016/j.neubiorev.2020.07.018) 32707345 PMC10691233 · DOI · Paper page
  55. [67]Jürgensen M Hiort O Holterhus PM Thyen U. Gender role behavior in children with XY karyotype and disorders of sex development. Hormones and Behavior 2007 51 443– 453. (10.1016/j.yhbeh.2007.01.001) 17306800 · DOI
  56. [69]Nordenström A Servin A Bohlin G Larsson A Wedell A. Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 2002 87 5119– 5124. (10.1210/jc.2001-011531) 12414881 · DOI · Paper page
  57. [70]Frisén L Nordenström A Falhammar H Filipsson H Holmdahl G Janson PO Thorén M Hagenfeldt K Möller A Nordenskjöld A. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. Journal of Clinical Endocrinology and Metabolism 2009 94 3432– 3439. (10.1210/jc.2009-0636) 19567521 · DOI · Paper page
  58. [71]Wisniewski AB Migeon CJ Gearhart JP Rock JA Berkovitz GD Plotnick LP Meyer-Bahlburg HF Money J. Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. Hormone Research 2001 56 3– 11. (10.1159/000048083) 11815721 · DOI
  59. [72]Mazur T Gender dysphoria and gender change in androgen insensitivity or micropenis. Archives of Sexual Behavior 2005 34 411– 421. (10.1007/s10508-005-4341-x) 16010464 · DOI
  60. [73]Cohen-Kettenis PT Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Archives of Sexual Behavior 2005 34 399– 410. (10.1007/s10508-005-4339-4) 16010463 · DOI
  61. [74]Richter-Appelt H Discher C Gedrose B. Gender identity and recalled gender related childhood play-behaviour in adult individuals with different forms of intersexuality. Anthropologischer Anzeiger 2005 63 241– 256. (10.1127/anthranz/63/2005/241) 16176051 · DOI
  62. [75]Jurgensen M Kleinemeier E Lux A Steensma TD Cohen-Kettenis PT Hiort O Thyen U Köhler B & DSD Network Working Group. Psychosexual development in adolescents and adults with disorders of sex development – results from the German Clinical Evaluation Study. Journal of Sexual Medicine 2013 10 2703– 2714. (10.1111/j.1743-6109.2012.02751.x) 22548716 · DOI
  63. [76]Ediati A Juniarto AZ Birnie E Drop SL Faradz SM Dessens AB. Gender development in Indonesian children, adolescents, and adults with disorders of sex development. Archives of Sexual Behavior 2015 44 1339– 1361. (10.1007/s10508-015-0493-5) 25813609 · DOI · Paper page
  64. [77]Callens N Van Kuyk M van Kuppenveld JH Drop SLS Cohen-Kettenis PT Dessens AB & Dutch Study Group on DSD. Recalled and current gender role behavior, gender identity and sexual orientation in adults with disorders/differences of sex development. Hormones and Behavior 2016 86 8– 20. (10.1016/j.yhbeh.2016.08.008) 27576114 · DOI
  65. [78]Kreukels BPC Kohler B Nordenstrom A Roehle R Thyen U Bouvattier C de Vries ALC Cohen-Kettenis PT & dsd-LIFE group. Gender dysphoria and gender change in disorders of sex development/intersex conditions: results from the dsd-LIFE study. Journal of Sexual Medicine 2018 15 777– 785. (10.1016/j.jsxm.2018.02.021) 29606626 · DOI
  66. [79]Berenbaum SA Beltz AM. Sexual differentiation of human behavior: effects of prenatal and pubertal organizational hormones. Frontiers in Neuroendocrinology 2011 32 183– 200. (10.1016/j.yfrne.2011.03.001) 21397624 · DOI
  67. [80]Hines M Gender development and the human brain. Annual Review of Neuroscience 2011 34 69– 88. (10.1146/annurev-neuro-061010-113654) 21438685 · DOI · Paper page
  68. [82]Zainuddin AA Grover SR Shamsuddin K Mahdy ZA. Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations. Journal of Pediatric and Adolescent Gynecology 2013 26 296– 304. (10.1016/j.jpag.2012.08.004) 23507003 · DOI
  69. [83]Chowdhury TK Kabir M Chowdhury MZ Hutson JM Banu T. The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity. Journal of Pediatric Urology 2014 10 1255– 1260. (10.1016/j.jpurol.2014.06.021) 25130901 · DOI · Paper page
  70. [84]Ediati A Faradz SM Juniarto AZ van der Ende J Drop SL Dessens AB. Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development. Journal of Psychosomatic Research 2015 79 76– 84. (10.1016/j.jpsychores.2014.12.007) 25563666 · DOI · Paper page
  71. [85]Ediati A Juniarto AZ Birnie E Okkerse J Wisniewski A Drop S Faradz SMH Dessens A. Social stigmatisation in late identified patients with disorders of sex development in Indonesia. BMJ Paediatrics Open 2017 1 e000130. (10.1136/bmjpo-2017-000130) PMC5862183 29637149 · DOI
  72. [86]Hepburn CM Cohen E Bhawra J Weiser N Hayeems RZ Guttmann A. Health system strategies supporting transition to adult care. Archives of Disease in Childhood 2015 100 559– 564. (10.1136/archdischild-2014-307320) 25688098 PMC4453494 · DOI
  73. [87]van Staa AL Jedeloo S van Meeteren J Latour JM. Crossing the transition chasm: experiences and recommendations for improving transitional care of young adults, parents and providers. Child: Care, Health and Development 2011 37 821– 832. (10.1111/j.1365-2214.2011.01261.x) 22007982 · DOI
  74. [88]Monaghan M Hilliard M Sweenie R Riekert K. Transition readiness in adolescents and emerging adults with diabetes: the role of patient-provider communication. Current Diabetes Reports 2013 13 900– 908. (10.1007/s11892-013-0420-x) 24014075 PMC3832624 · DOI
  75. [89]Godbout A Tejedor I Malivoir S Polak M Touraine P. Transition from pediatric to adult healthcare: assessment of specific needs of patients with chronic endocrine conditions. Hormone Research in Paediatrics 2012 78 247– 255. (10.1159/000343818) 23128858 · DOI
  76. [90]American Academy of Pediatrics, American Academy of Family Physicians & American College of Physicians-American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics 2002 110 1304– 1306. (10.1542/peds.110.S3.1304) 12456949 · DOI
  77. [91]Kaufman M Pinzon J & Canadian Paediatric Society, Adolescent Health Committee. Transition to adult care for youth with special health care needs. Paediatrics and Child Health 2007 12 785– 793. (10.1093/pch/12.9.785) 19030468 PMC2532874 · DOI
  78. [92]Nagra A McGinnity PM Davis N Salmon AP. Implementing transition: ready steady go. Archives of Disease in Childhood: Education and Practice Edition 2015 100 313– 320. (10.1136/archdischild-2014-307423) 26063244 PMC4680199 · DOI
  79. [93]Le Roux E Menesguen F Tejedor I Popelier M Halbron M Faucher P Malivoir S Pinto G Léger J Hatem S Transition of young adults with endocrine and metabolic diseases: the ‘TRANSEND’ cohort. Endocrine Connections 2021 10 21– 28. (10.1530/EC-20-0520) 33263561 PMC7923139 · DOI
  80. [94]Colver A McConachie H Le Couteur A Dovey-Pearce G Mann KD McDonagh JE Pearce MS Vale L Merrick H Parr JR A longitudinal, observational study of the features of transitional healthcare associated with better outcomes for young people with long-term conditions. BMC Medicine 2018 16 111. (10.1186/s12916-018-1102-y) PMC6055340 30032726 · DOI
  81. [95]Bachelot A Vialon M Baptiste A Tejedor I Elie C Polak M Touraine P. Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood. Endocrine Connections 2017 6 422– 429. (10.1530/EC-17-0094) 28720594 PMC5551429 · DOI
  82. [98]Andrews J Guyatt G Oxman AD Alderson P Dahm P Falck-Ytter Y Nasser M Meerpohl J Post PN Kunz R GRADE guidelines: 14. Going from evidence to recommendations: the significance and presentation of recommendations. Journal of Clinical Epidemiology 2013 66 719– 725. (10.1016/j.jclinepi.2012.03.013) 23312392 · DOI · Paper page
  83. [99]Andrews JC Schünemann HJ Oxman AD Pottie K Meerpohl JJ Coello PA Rind D Montori VM Brito JP Norris S Going from evidence to recommendation-determinants of a recommendation’s direction and strength. Journal of Clinical Epidemiology 2013 66 726– 735. (10.1016/j.jclinepi.2013.02.003) 23570745 · DOI
  84. [100]Arisaka O Arisaka M Nakayama Y Fujiwara S Yabuta K. Effect of testosterone on bone density and bone metabolism in adolescent male hypogonadism. Metabolism: Clinical and Experimental 1995 44 419– 423. (10.1016/0026-0495(9590046-2) 7723663 · DOI
  85. [101]Bistritzer T Lunenfeld B Passwell JH Theodor R. Hormonal therapy and pubertal development in boys with selective hypogonadotropic hypogonadism. Fertility and Sterility 1989 52 302– 306. (10.1016/s0015-0282(1660859-2) 2753178 · DOI
  86. [102]Delemarre-Van de Waal HA Induction of testicular growth and spermatogenesis by pulsatile, intravenous administration of gonadotrophin-releasing hormone in patients with hypogonadotrophic hypogonadism. Clinical Endocrinology 1993 38 473– 480. (10.1111/j.1365-2265.1993.tb00342.x) 8330443 · DOI
  87. [103]Gong C Liu Y Qin M Wu D Wang X. Pulsatile GnRH is superior to hCG in therapeutic efficacy in adolescent boys with hypogonadotropic hypogonadodism. Journal of Clinical Endocrinology and Metabolism 2015 100 2793– 2799. (10.1210/jc.2015-1343) 25978110 · DOI
  88. [105]Shah S Forghani N Durham E Neely EK. A randomized trial of transdermal and oral estrogen therapy in adolescent girls with hypogonadism. International Journal of Pediatric Endocrinology 2014 2014 12. (10.1186/1687-9856-2014-12) PMC4074834 24982681 · DOI · Paper page
  89. [107]Nilsson KO Albertsson-Wikland K Alm J Aronson S Gustafsson J Hagenäs L Häger A Ivarsson SA Karlberg J Kriström B Improved final height in girls with Turner’s syndrome treated with growth hormone and oxandrolone. Journal of Clinical Endocrinology and Metabolism 1996 81 635– 640. (10.1210/jcem.81.2.8636281) 8636281 · DOI
  90. [108]Ruszala A Wojcik M Zygmunt-Gorska A Janus D Wojtys J Starzyk JB. Prepubertal ultra-low-dose estrogen therapy is associated with healthier lipid profile than conventional estrogen replacement for pubertal induction in adolescent girls with Turner syndrome: preliminary results. Journal of Endocrinological Investigation 2017 40 875– 879. (10.1007/s40618-017-0665-3) 28397183 PMC5514173 · DOI · Paper page
  91. [109]Chernausek SD Attie KM Cara JF Rosenfeld RG Frane J. Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. Journal of Clinical Endocrinology and Metabolism 2000 85 2439– 2445. (10.1210/jcem.85.7.6684) 10902791 · DOI
  92. [110]Demetriou E Emans SJ Crigler Jr JF. Final height in estrogen-treated patients with Turner syndrome. Obstetrics and Gynecology 1984 64 459– 464. (10.1097/00006254-198505000-00014) 6091005 · DOI
  93. [111]Hasegawa Y Ariyasu D Izawa M Igaki-Miyamoto J Fukuma M Hatano M Yagi H Goto M. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD. Endocrine Journal 2017 64 221– 227. (10.1507/endocrj.EJ16-0170) 27916781 · DOI · Paper page
  94. [112]Gault EJ Cole TJ Casey S Hindmarsh PC Betts P Dunger DB Donaldson MDC. Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial. Archives of Disease in Childhood 2021 106 74– 76. (10.1136/archdischild-2019-317695) 31862699 · DOI · Paper page
  95. [113]Rosenfield RL Devine N Hunold JJ Mauras N Moshang T Root AW. Salutary effects of combining early very low-dose systemic estradiol with growth hormone therapy in girls with Turner syndrome. Journal of Clinical Endocrinology and Metabolism 2005 90 6424– 6430. (10.1210/jc.2005-1081) 16189255 · DOI
  96. [114]Lindhardt Johansen M Hagen CP Mieritz MG Wolthers OD Heuck C Petersen JH Juul A. Pubertal progression and reproductive hormones in healthy girls with transient thelarche. Journal of Clinical Endocrinology and Metabolism 2017 102 1001– 1008. (10.1210/jc.2016-2871) 28009526 · DOI
  97. [115]Bollino A Cangiano B Goggi G Federici S Duminuco P Giovanelli L Galazzi E Vezzoli V Persani L Bonomi M. Pubertal delay: the challenge of a timely differential diagnosis between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty. Minerva Pediatrica 2020 72 278– 287. (10.23736/S0026-4946.20.05860-0) 32418410 · DOI
  98. [116]Persani L Bonomi M Cools M Dattani M Dunkel L Gravholt CH Juul A. ENDO-ERN expert opinion on the differential diagnosis of pubertal delay. Endocrine 2021 71 681– 688. (10.1007/s12020-021-02626-z) 33512657 PMC8016789 · DOI
  99. [117]Sedlmeyer IL Palmert MR. Delayed puberty: analysis of a large case series from an academic center. Journal of Clinical Endocrinology and Metabolism 2002 87 1613– 1620. (10.1210/jcem.87.4.8395) 11932291 · DOI
  100. [118]Raivio T Miettinen PJ. Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: genetics, management and updates. Best Practice and Research: Clinical Endocrinology and Metabolism 2019 33 101316. (10.1016/j.beem.2019.101316) 31522908 · DOI
  101. [121]Cardona Attard C Cameron-Pimblett A Puri D La Rosa C Talaulikar VS Davies MC Learner HI Liao LM Conway GS. Relationship and sexual experiences in women with early-onset oestrogen deficiency: comparison between women with Turner syndrome and premature ovarian insufficiency. Clinical Endocrinology 2020 93 473– 481. (10.1111/cen.14271) 32579712 · DOI
  102. [124]Pasquino AM Passeri F Pucarelli I Segni M Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s syndrome. Journal of Clinical Endocrinology and Metabolism 1997 82 1810– 1813. (10.1210/jcem.82.6.3970) 9177387 · DOI
  103. [125]Negreiros LP Bolina ER Guimarães MM. Pubertal development profile in patients with Turner syndrome. Journal of Pediatric Endocrinology and Metabolism 2014 27 845– 849. (10.1515/jpem-2013-0256) 24887955 · DOI
  104. [126]Folsom LJ Slaven JE Nabhan ZM Eugster EA. Characterization of spontaneous and induced puberty in girls with Turner syndrome. Endocrine Practice 2017 23 768– 774. (10.4158/EP161738.OR) 28332872 PMC5808458 · DOI · Paper page
  105. [127]Dabrowski E Jensen R Johnson EK Habiby RL Brickman WJ Finlayson C. Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype. Hormone Research in Paediatrics 2019 92 143– 149. (10.1159/000502902) 31918426 · DOI · Paper page
  106. [128]Viuff MH Berglund A Juul S Andersen NH Stochholm K Gravholt CH. Sex hormone replacement therapy in Turner syndrome: impact on morbidity and mortality. Journal of Clinical Endocrinology and Metabolism 2020 105 dgz039. (10.1210/clinem/dgz039) 31545360 · DOI · Paper page
  107. [129]Aso K Koto S Higuchi A Ariyasu D Izawa M Miyamoto Igaki J Hasegawa Y. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocrine Journal 2010 57 909– 913. (10.1507/endocrj.k10e-092) 20798475 · DOI
  108. [132]Visser JA Hokken-Koelega AC Zandwijken GR Limacher A Ranke MB Flück CE. Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Human Reproduction 2013 28 1899– 1907. (10.1093/humrep/det089) 23539612 · DOI
  109. [133]Hagen CP Main KM Kjaergaard S Juul A. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty. Human Reproduction 2010 25 3134– 3141. (10.1093/humrep/deq291) 20956269 · DOI · Paper page
  110. [135]Ankarberg-Lindgren C Gawlik A Kriström B Mazzanti L Ruijgrok EJ Sas TCJ. Estradiol matrix patches for pubertal induction: stability of cut pieces at different temperatures. Endocrine Connections 2019 8 360– 366. (10.1530/EC-19-0025) 30851161 PMC6454296 · DOI
  111. [136]Ankarberg-Lindgren C Elfving M Wikland KA Norjavaara E. Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls. Journal of Clinical Endocrinology and Metabolism 2001 86 3039– 3044. (10.1210/jcem.86.7.7667) 11443165 · DOI
  112. [138]Jospe N Orlowski CC Furlanetto RW. Comparison of transdermal and oral estrogen therapy in girls with Turner’s syndrome. Journal of Pediatric Endocrinology and Metabolism 1995 8 111– 116. (10.1515/jpem.1995.8.2.111) 7584704 · DOI · Paper page
  113. [139]Bakalov VK Shawker T Ceniceros I Bondy CA. Uterine development in Turner syndrome. Journal of Pediatrics 2007 151 528– 53 1, 531.e1. (10.1016/j.jpeds.2007.04.031) PMC2118059 17961700 · DOI
  114. [140]Cleemann L Holm K Fallentin E Møller N Kristensen B Skouby SO Leth-Esbensen P Jeppesen EM Jensen AK Gravholt CH. Effect of dosage of 17β-estradiol on uterine growth in Turner syndrome – a randomized controlled clinical pilot trial. Journal of Clinical Endocrinology and Metabolism 2020 105 dgz061. (10.1210/clinem/dgz061) 31613320 · DOI · Paper page
  115. [141]Alves ST Gallichio CT Guimarães MM. Insulin resistance and body composition in Turner syndrome: effect of sequential change in the route of estrogen administration. Gynecological Endocrinology 2006 22 590– 594. (10.1080/08916930600929586) 17135039 · DOI · Paper page
  116. [143]Reinehr T Lindberg A Toschke C Cara J Chrysis D Camacho-Hübner C. Weight gain in Turner syndrome: association to puberty induction? Longitudinal analysis of KIGS data. Clinical Endocrinology 2016 85 85– 91. (10.1111/cen.13044) 26921881 · DOI · Paper page
  117. [146]Gravholt CH Poulsen HE Ott P Christiansen JS Vilstrup H. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy. European Journal of Endocrinology 2007 156 679– 686. (10.1530/EJE-07-0070) 17535868 · DOI · Paper page
  118. [147]Çakır ED Sağlam H Eren E Özgür T Tarım ÖF. Retrospective evaluation of pubertal development and linear growth of girls with Turner syndrome treated with oral and transdermal estrogen. Journal of Pediatric Endocrinology and Metabolism 2015 28 1219– 1226. (10.1515/jpem-2014-0007) 25968434 · DOI
  119. [149]Naeraa RW Nielsen J Kastrup KW. Growth hormone and 17 beta-oestradiol treatment of Turner girls – 2-year results. European Journal of Pediatrics 1994 153 72– 77. (10.1007/BF01959210) 8157028 · DOI
  120. [150]Ankarberg-Lindgren C Kriström B Norjavaara E. Physiological estrogen replacement therapy for puberty induction in girls: a clinical observational study. Hormone Research in Paediatrics 2014 81 239– 244. (10.1159/000356922) 24503929 · DOI
  121. [151]Piippo S Lenko H Kainulainen P Sipilä I. Use of percutaneous estrogen gel for induction of puberty in girls with Turner syndrome. Journal of Clinical Endocrinology and Metabolism 2004 89 3241– 3247. (10.1210/jc.2003-032069) 15240598 · DOI
  122. [152]Gawlik AM Hankus M Szeliga K Antosz A Gawlik T Soltysik K Drosdzol-Cop A Wilk K Kudela G Koszutski T Late-onset puberty induction by transdermal estrogen in Turner syndrome girls – a longitudinal study. Frontiers in Endocrinology 2018 9 23. (10.3389/fendo.2018.00023) PMC5810248 29472893 · DOI
  123. [153]Labarta JI Moreno ML López-Siguero JP Luzuriaga C Rica I Sánchez-del Pozo J Gracia-Bouthelier R & Spanish Turner working group. Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial. European Journal of Endocrinology 2012 167 523– 529. (10.1530/EJE-12-0444) 22807477 · DOI · Paper page
  124. [154]Bannink EM van Sassen C van Buuren S de Jong FH Lequin M Mulder PG de Muinck Keizer-Schrama SM. Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels. Clinical Endocrinology 2009 70 265– 273. (10.1111/j.1365-2265.2008.03446.x) 19200215 · DOI
  125. [155]van Pareren YK de Muinck Keizer-Schrama SM Stijnen T Sas TC Jansen M Otten BJ Hoorweg-Nijman JJ Vulsma T Stokvis-Brantsma WH Rouwé CW Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. Journal of Clinical Endocrinology and Metabolism 2003 88 1119– 1125. (10.1210/jc.2002-021171) 12629094 · DOI
  126. [156]Donaldson M Kristrom B Ankarberg-Lindgren C Verlinde S van Alfen-van der Velden J Gawlik A van Gelder MMHJ Sas T & on behalf of the European Society for Paediatric Endocrinology Turner Syndrome Working Group. Optimal pubertal induction in girls with Turner syndrome using either oral or transdermal estradiol: a proposed modern strategy. Hormone Research in Paediatrics 2019 91 153– 163. (10.1159/000500050) 31167218 · DOI
  127. [157]Shifren JL Gass ML & NAMS Recommendations for Clinical Care of Midlife Women Working Group. The North American Menopause Society recommendations for clinical care of midlife women. Menopause 2014 21 1038– 1062. (10.1097/GME.0000000000000319) 25225714 · DOI
  128. [158]Matthews D Bath L Högler W Mason A Smyth A Skae M. Hormone supplementation for pubertal induction in girls. Archives of Disease in Childhood 2017 102 975– 980. (10.1136/archdischild-2016-311372) 28446424 · DOI
  129. [159]Lawaetz JG Hagen CP Mieritz MG Blomberg Jensen M Petersen JH Juul A. Evaluation of 451 Danish boys with delayed puberty: diagnostic use of a new puberty nomogram and effects of oral testosterone therapy. Journal of Clinical Endocrinology and Metabolism 2015 100 1376– 1385. (10.1210/jc.2014-3631) 25594861 · DOI
  130. [160]Dwyer AA Phan-Hug F Hauschild M Elowe-Gruau E Pitteloud N. TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence. European Journal of Endocrinology 2015 173 R15– R24. (10.1530/EJE-14-0947) 25653257 · DOI
  131. [161]Palmert MR Dunkel L. Clinical practice. Delayed puberty. New England Journal of Medicine 2012 366 443– 453. (10.1056/NEJMcp1109290) 22296078 · DOI
  132. [162]Bozzola M Bozzola E Montalbano C Stamati FA Ferrara P Villani A. Delayed puberty versus hypogonadism: a challenge for the pediatrician. Annals of Pediatric Endocrinology and Metabolism 2018 23 57– 61. (10.6065/apem.2018.23.2.57) 29969875 PMC6057016 · DOI
  133. [164]Lucas-Herald AK Mason E Beaumont P Mason A Shaikh MG Wong SC Ahmed SF. Single-centre experience of testosterone therapy for boys with hypogonadism. Hormone Research in Paediatrics 2018 90 123– 127. (10.1159/000490738) 30021202 · DOI
  134. [165]Cox K Bryce J Jiang J Rodie M Sinnott R Alkhawari M Arlt W Audi L Balsamo A Bertelloni S Novel associations in disorders of sex development: findings from the I-DSD Registry. Journal of Clinical Endocrinology and Metabolism 2014 99 E348– E355. (10.1210/jc.2013-2918) 24302751 PMC3955252 · DOI
  135. [166]Nixon R Cerqueira V Kyriakou A Lucas-Herald A McNeilly J McMillan M Purvis AI Tobias ES McGowan R Ahmed SF. Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human Reproduction 2017 32 2130– 2137. (10.1093/humrep/dex280) 28938747 PMC5850224 · DOI
  136. [167]Bonomi M Rochira V Pasquali D Balercia G Jannini EA Ferlin A & Klinefelter ItaliaN Group (KING). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of Endocrinological Investigation 2017 40 123– 134. (10.1007/s40618-016-0541-6) 27644703 PMC5269463 · DOI
  137. [168]Flück C Nordenström A Ahmed SF Ali SR Berra M Hall J Köhler B Pasterski V Robeva R Schweizer K Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. European Journal of Endocrinology 2019 181 545– 564. (10.1530/EJE-19-0363) 31539875 · DOI
  138. [169]Wikström AM Dunkel L. Klinefelter syndrome. Best Practice and Research: Clinical Endocrinology and Metabolism 2011 25 239– 250. (10.1016/j.beem.2010.09.006) 21397196 · DOI
  139. [170]Gravholt CH Chang S Wallentin M Fedder J Moore P Skakkebæk A. Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology. Endocrine Reviews 2018 39 389– 423. (10.1210/er.2017-00212) 29438472 · DOI
  140. [171]Tantawy S Lin L Akkurt I Borck G Klingmüller D Hauffa BP Krude H Biebermann H Achermann JC Köhler B. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. European Journal of Endocrinology 2012 167 125– 130. (10.1530/EJE-11-0944) 22474171 PMC3381348 · DOI
  141. [172]Krausz C Casamonti E. Spermatogenic failure and the Y chromosome. Human Genetics 2017 136 637– 655. (10.1007/s00439-017-1793-8) 28456834 · DOI
  142. [173]Maqdasy S Barres B Salaun G Batisse-Lignier M Pebrel-Richard C Kwok KHM Labbé A Touraine P Brugnon F Tauveron I. Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology. Basic and Clinical Andrology 2020 30 19. (10.1186/s12610-020-00117-1) PMC7724694 33292161 · DOI
  143. [174]Gong C Li L Chen J Li W. Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome. Pediatric Investigation 2019 3 127– 130. (10.1002/ped4.12136) 32851304 PMC7331432 · DOI
  144. [175]Kolesinska Z Ahmed SF Niedziela M Bryce J Molinska-Glura M Rodie M Jiang J Sinnott RO Hughes IA Darendeliler F Changes over time in sex assignment for disorders of sex development. Pediatrics 2014 134 e710– e715. (10.1542/peds.2014-1088) 25092939 · DOI
  145. [176]Eisenegger C Haushofer J Fehr E. The role of testosterone in social interaction. Trends in Cognitive Sciences 2011 15 263– 271. (10.1016/j.tics.2011.04.008) 21616702 · DOI · Paper page
  146. [177]Bos PA Panksepp J Bluthé RM van Honk J. Acute effects of steroid hormones and neuropeptides on human social-emotional behavior: a review of single administration studies. Frontiers in Neuroendocrinology 2012 33 17– 35. (10.1016/j.yfrne.2011.01.002) 21256859 · DOI · Paper page
  147. [178]Roden RC Schmidt EK Holland-Hall C. Sexual health education for adolescents and young adults with intellectual and developmental disabilities: recommendations for accessible sexual and reproductive health information. Lancet: Child and Adolescent Health 2020 4 699– 708. (10.1016/S2352-4642(2030098-5) 32827491 · DOI
  148. [180]Day FR Elks CE Murray A Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study. Scientific Reports 2015 5 11208.(10.1038/srep11208) 26084728 PMC4471670 · DOI
  149. [181]Tinggaard J Mieritz MG Sørensen K Mouritsen A Hagen CP Aksglaede L Wohlfahrt-Veje C Juul A. The physiology and timing of male puberty. Current Opinion in Endocrinology, Diabetes, and Obesity 2012 19 197– 203. (10.1097/MED.0b013e3283535614) 22499221 · DOI
  150. [182]Drobac S Rubin K Rogol AD Rosenfield RL. A workshop on pubertal hormone replacement options in the United States. Journal of Pediatric Endocrinology and Metabolism 2006 19 55– 64. (10.1515/jpem.2006.19.1.55) 16509529 · DOI
  151. [183]Stancampiano MR Lucas-Herald AK Russo G Rogol AD Ahmed SF. Testosterone therapy in adolescent boys: the need for a structured approach. Hormone Research in Paediatrics 2019 92 215– 228. (10.1159/000504670) 31851967 · DOI
  152. [184]Lampit M Hochberg Z. Androgen therapy in constitutional delay of growth. Hormone Research 2003 59 270– 275. (10.1159/000070624) 12784090 · DOI
  153. [185]Ahmed SF Tucker P Mayo A Wallace AM Hughes IA. Randomized, crossover comparison study of the short-term effect of oral testosterone undecanoate and intramuscular testosterone depot on linear growth and serum bone alkaline phosphatase. Journal of Pediatric Endocrinology and Metabolism 2004 17 941– 950. (10.1515/jpem.2004.17.7.941) 15301041 · DOI
  154. [186]Ankarberg-Lindgren C Norjavaara E. Changes of diurnal rhythm and levels of total and free testosterone secretion from pre to late puberty in boys: testis size of 3 ml is a transition stage to puberty. European Journal of Endocrinology 2004 151 747– 757. (10.1530/eje.0.1510747) 15588242 · DOI
  155. [187]Mouritsen A Søeborg T Johannsen TH Aksglaede L Sørensen K Hagen CP Mieritz MG Frederiksen H Andersson AM Juul A. Longitudinal changes in circulating testosterone levels determined by LC-MS/MS and by a commercially available radioimmunoassay in healthy girls and boys during the pubertal transition. Hormone Research in Paediatrics 2014 82 12– 17. (10.1159/000358560) 25033974 · DOI
  156. [188]Nieschlag E Cüppers HJ Wiegelmann W Wickings EJ. Bioavailability and LH-suppressing effect of different testosterone preparations in normal and hypogonadal men. Hormone Research 1976 7 138– 145. (10.1159/000178721) 1002121 · DOI
  157. [189]Kresch E Patel M Lima TFN Ramasamy R. An update on the available and emerging pharmacotherapy for adults with testosterone deficiency available in the USA. Expert Opinion on Pharmacotherapy 2021 22 1761– 1771. (10.1080/14656566.2021.1918101) 33866902 · DOI
  158. [190]Mason KA Schoelwer MJ Rogol AD. Androgens during infancy, childhood, and adolescence: physiology and use in clinical practice. Endocrine Reviews 2020 41 bnaa003. (10.1210/endrev/bnaa003) 32115641 · DOI
  159. [193]Rogol AD Swerdloff RS Reiter EO Ross JL ZumBrunnen TL Pratt GA Brennan JJ Benesh J Kan-Dobrosky N Miller MG. A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with Klinefelter syndrome or anorchia. Journal of Adolescent Health 2014 54 20– 25. (10.1016/j.jadohealth.2013.07.021) 24035132 · DOI
  160. [194]Kunz GJ Klein KO Clemons RD Gottschalk ME Jones KL. Virilization of young children after topical androgen use by their parents. Pediatrics 2004 114 282– 284. (10.1542/peds.114.1.282) 15231947 · DOI
  161. [195]Schopohl J Mehltretter G von Zumbusch R Eversmann T von Werder K. Comparison of gonadotropin-releasing hormone and gonadotropin therapy in male patients with idiopathic hypothalamic hypogonadism. Fertility and Sterility 1991 56 1143– 1150. (10.1016/S0015-0282(1654730-X) 1743335 · DOI
  162. [196]Seftel A Testosterone replacement therapy for male hypogonadism: part III. Pharmacologic and clinical profiles, monitoring, safety issues, and potential future agents. International Journal of Impotence Research 2007 19 2– 24. (10.1038/sj.ijir.3901366) 16193074 · DOI
  163. [197]Kanakis GA Nordkap L Bang AK Calogero AE Bártfai G Corona G Forti G Toppari J Goulis DG Jørgensen N. EAA clinical practice guidelines-gynecomastia evaluation and management. Andrology 2019 7 778– 793. (10.1111/andr.12636) 31099174 · DOI
  164. [198]Rhoden EL Morgentaler A. Treatment of testosterone-induced gynecomastia with the aromatase inhibitor, anastrozole. International Journal of Impotence Research 2004 16 95– 97. (10.1038/sj.ijir.3901154) 14963480 · DOI
  165. [199]Treves N Gynecomastia; the origins of mammary swelling in the male: an analysis of 406 patients with breast hypertrophy, 525 with testicular tumors, and 13 with adrenal neoplasms. Cancer 1958 11 1083– 1102. (10.1002/1097-0142(195811/12)11:6<1083::aid-cncr2820110602>3.0.co;2-9) 13608407 · DOI
  166. [200]Gruntmanis U Braunstein GD. Treatment of gynecomastia. Current Opinion in Investigational Drugs 2001 2 643– 649. 11569940
  167. [201]Braunstein GD Clinical practice. Gynecomastia. New England Journal of Medicine 2007 357 1229– 1237. (10.1056/NEJMcp070677) 17881754 · DOI
  168. [202]Rohrich RJ Ha RY Kenkel JM Adams Jr WP. Classification and management of gynecomastia: defining the role of ultrasound-assisted liposuction. Plastic and Reconstructive Surgery 2003 111 909– 923; discussion 924– 905. (10.1097/01.PRS.0000042146.40379.25) 12560721 · DOI
  169. [203]Tashkandi M Al-Qattan MM Hassanain JM Hawary MB Sultan M. The surgical management of high-grade gynecomastia. Annals of Plastic Surgery 2004 53 17– 20; discussion 21. (10.1097/01.sap.0000112347.30612.f4) 15211192 · DOI
  170. [204]Bonomi M Vezzoli V Krausz C Guizzardi F Vezzani S Simoni M Bassi I Duminuco P Di Iorgi N Giavoli C Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). European Journal of Endocrinology 2018 178 23– 32. (10.1530/EJE-17-0065) 28882981 · DOI
  171. [205]Boehm U Bouloux PM Dattani MT de Roux N Dodé C Dunkel L Dwyer AA Giacobini P Hardelin JP Juul A Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism – pathogenesis, diagnosis and treatment. Nature Reviews: Endocrinology 2015 11 547– 564. (10.1038/nrendo.2015.112) 26194704 · DOI · Paper page
  172. [206]Cangiano B Swee DS Quinton R Bonomi M. Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Human Genetics 2021 140 77– 111. (10.1007/s00439-020-02147-1) 32200437 · DOI
  173. [207]Young J Approach to the male patient with congenital hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2012 97 707– 718. (10.1210/jc.2011-1664) 22392951 · DOI
  174. [208]Shiraishi K Oka S Matsuyama H. Assessment of quality of life during gonadotrophin treatment for male hypogonadotrophic hypogonadism. Clinical Endocrinology 2014 81 259– 265. (10.1111/cen.12435) 24612103 · DOI
  175. [209]Dunkel L Quinton R. Transition in endocrinology: induction of puberty. European Journal of Endocrinology 2014 170 R229– R239. (10.1530/EJE-13-0894) 24836550 · DOI
  176. [210]Delemarre EM Felius B Delemarre-van de Waal HA. Inducing puberty. European Journal of Endocrinology 2008 159 (Supplement 1) S9– S15. (10.1530/EJE-08-0314) 18796540 · DOI
  177. [211]Swee DS Quinton R. Managing congenital hypogonadotrophic hypogonadism: a contemporary approach directed at optimizing fertility and long-term outcomes in males. Therapeutic Advances in Endocrinology and Metabolism 2019 10 2042018819826889. (10.1177/2042018819826889) 30800268 PMC6378644 · DOI
  178. [212]Rohayem J Hauffa BP Zacharin M Kliesch S Zitzmann M & ‘ German Adolescent Hypogonadotropic Hypogonadism Study Group ’. Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? A multicentre prospective study of hCG/rFSH treatment outcomes during adolescence. Clinical Endocrinology 2017 86 75– 87. (10.1111/cen.13164) 27467188 · DOI · Paper page
  179. [214]Dwyer AA Sykiotis GP Hayes FJ Boepple PA Lee H Loughlin KR Dym M Sluss PM Crowley WF Pitteloud N. Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2013 98 E1790– E1795. (10.1210/jc.2013-2518) 24037890 PMC3816270 · DOI · Paper page
  180. [215]Raivio T Wikström AM Dunkel L. Treatment of gonadotropin-deficient boys with recombinant human FSH: long-term observation and outcome. European Journal of Endocrinology 2007 156 105– 111. (10.1530/eje.1.02315) 17218732 · DOI
  181. [216]Cangiano B Goggi G Federici S Bresesti C Cotellessa L Guizzardi F Vezzoli V Duminuco P Persani L Bonomi M. Predictors of reproductive and non-reproductive outcomes of gonadotropin mediated pubertal induction in male patients with congenital hypogonadotropic hypogonadism (CHH). Journal of Endocrinological Investigation 2021 44 2445– 2454. (10.1007/s40618-021-01556-x) 33738751 PMC8502167 · DOI
  182. [217]Barrio R de Luis D Alonso M Lamas A Moreno JC. Induction of puberty with human chorionic gonadotropin and follicle-stimulating hormone in adolescent males with hypogonadotropic hypogonadism. Fertility and Sterility 1999 71 244– 248. (10.1016/s0015-0282(9800450-6) 9988392 · DOI
  183. [218]Zacharin M Sabin MA Nair VV Dabadghao P. Addition of recombinant follicle-stimulating hormone to human chorionic gonadotropin treatment in adolescents and young adults with hypogonadotropic hypogonadism promotes normal testicular growth and may promote early spermatogenesis. Fertility and Sterility 2012 98 836– 842. (10.1016/j.fertnstert.2012.06.022) 22763096 · DOI
  184. [219]Raivio T Toppari J Perheentupa A McNeilly AS Dunkel L. Treatment of prepubertal gonadotrophin-deficient boys with recombinant human follicle-stimulating hormone. Lancet 1997 350 263– 264. (10.1016/S0140-6736(0562227-1) 9242808 · DOI
  185. [220]Kohva E Huopio H Hero M Miettinen PJ Vaaralahti K Sidoroff V Toppari J Raivio T. Recombinant human FSH treatment outcomes in five boys with severe congenital hypogonadotropic hypogonadism. Journal of the Endocrine Society 2018 2 1345– 1356. (10.1210/js.2018-00225) 30519672 PMC6270974 · DOI
  186. [221]Saal W Happ J Cordes U Baum RP Schmidt M. Subcutaneous gonadotropin therapy in male patients with hypogonadotropic hypogonadism. Fertility and Sterility 1991 56 319– 324. (10.1016/s0015-0282(1654493-8) 1906410 · DOI
  187. [222]Bouvattier C Tauber M Jouret B Chaussain JL Rochiccioli P. Gonadotropin treatment of hypogonadotropic hypogonadal adolescents. Journal of Pediatric Endocrinology and Metabolism 1999 12 (Supplement 1) 339– 344. 10698599
  188. [223]Young J Chanson P Salenave S Noël M Brailly S O’Flaherty M Schaison G Rey R. Testicular anti-Mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2005 90 724– 728. (10.1210/jc.2004-0542) 15536161 · DOI
  189. [224]Zhang M Tong G Liu Y Mu Y Weng J Xue Y Luo Z Xue Y Shi L Wu X Sequential versus continual purified urinary FSH/hCG in men with idiopathic hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism 2015 100 2449– 2455. (10.1210/jc.2014-3802) 25825944 · DOI
  190. [225]Rohayem J Sinthofen N Nieschlag E Kliesch S Zitzmann M. Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults. Andrology 2016 4 87– 94. (10.1111/andr.12128) 26779870 · DOI
  191. [226]Cortes D Müller J Skakkebaek NE. Proliferation of Sertoli cells during development of the human testis assessed by stereological methods. International Journal of Andrology 1987 10 589– 596. (10.1111/j.1365-2605.1987.tb00358.x) 3654012 · DOI
  192. [227]Chemes HE Rey RA Nistal M Regadera J Musse M González-Peramato P Serrano A. Physiological androgen insensitivity of the fetal, neonatal, and early infantile testis is explained by the ontogeny of the androgen receptor expression in Sertoli cells. Journal of Clinical Endocrinology and Metabolism 2008 93 4408– 4412. (10.1210/jc.2008-0915) 18713818 · DOI
  193. [228]Bouloux P Warne DW Loumaye E & FSH Study Group in Men ’ s Infertility. Efficacy and safety of recombinant human follicle-stimulating hormone in men with isolated hypogonadotropic hypogonadism. Fertility and Sterility 2002 77 270– 273. (10.1016/s0015-0282(0102973-9) 11821082 · DOI
  194. [229]Efficacy and safety of highly purified urinary follicle-stimulating hormone with human chorionic gonadotropin for treating men with isolated hypogonadotropic hypogonadism. European Metrodin HP Study Group. Fertility and Sterility 1998 70 256– 262. (10.1016/s0015-0282(9800156-3) 9696217 · DOI
  195. [230]Jones TH Darne JF. Self-administered subcutaneous human menopausal gonadotrophin for the stimulation of testicular growth and the initiation of spermatogenesis in hypogonadotrophic hypogonadism. Clinical Endocrinology 1993 38 203– 208. (10.1111/j.1365-2265.1993.tb00994.x) 8435901 · DOI
  196. [231]Liu PY Baker HW Jayadev V Zacharin M Conway AJ Handelsman DJ. Induction of spermatogenesis and fertility during gonadotropin treatment of gonadotropin-deficient infertile men: predictors of fertility outcome. Journal of Clinical Endocrinology and Metabolism 2009 94 801– 808. (10.1210/jc.2008-1648) 19066302 · DOI
  197. [232]Liu PY Gebski VJ Turner L Conway AJ Wishart SM Handelsman DJ. Predicting pregnancy and spermatogenesis by survival analysis during gonadotrophin treatment of gonadotrophin-deficient infertile men. Human Reproduction 2002 17 625– 633. (10.1093/humrep/17.3.625) 11870114 · DOI
  198. [233]Berglund A Viuff MH Skakkebæk A Chang S Stochholm K Gravholt CH. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. Orphanet Journal of Rare Diseases 2019 14 16. (10.1186/s13023-018-0976-2) PMC6332849 30642344 · DOI
  199. [234]Bojesen A Juul S Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. Journal of Clinical Endocrinology and Metabolism 2003 88 622– 626. (10.1210/jc.2002-021491) 12574191 · DOI · Paper page
  200. [235]Simm PJ Zacharin MR. The psychosocial impact of Klinefelter syndrome – a 10 year review. Journal of Pediatric Endocrinology and Metabolism 2006 19 499– 505. 16759035

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Authors
Nordenström, A., Ahmed, S. F., van den Akker, E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., Claahsen-van der Grinten, H. L., Dessens, A. B., Gawlik, A., Gravholt, C. H., Juul, A., Krausz, C., Raivio, T., Smyth, A., Touraine, P., Vitali, D., & Dekkers, O. M.
Affiliations
  • Karolinska University Hospital (SE)
  • Royal Hospital for Children (GB)
  • Division of Pediatric Endocrinology and Obesity Center CGG, Department of Pediatrics, Erasmus MC Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands
  • Alder Hey Children's Hospital (GB)
  • University of Milan (IT)
  • Université Libre de Bruxelles (BE)
  • Leiden University Medical Center (NL)
  • Department of Pediatric Endocrinology, Amalia Childrens Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands
  • Erasmus MC (NL)
  • Medical University of Silesia (PL)
  • Aarhus University Hospital (DK)
  • University of Copenhagen (DK)
  • University of Florence (IT)
  • University of Helsinki (FI)
  • Endo-ERN (NL)
  • Sorbonne Université (FR)
  • SOD ITALIA APS – Italian Patient Organization for Septo Optic Dysplasia and Other Neuroendocrine Disorders – ePAG ENDO-ERN, Rome, Italy
  • Aarhus University (DK)
Corresponding author
Nordenström, A
ORCID
Venue
European Journal of Endocrinology
Publisher
Oxford University Press (OUP)
Published
2022-06-01
Volume
186
Issue
6
Pages
G9-G49
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
DOI
10.1530/eje-22-0073
PMC
PMC9066594
OpenAlex
W4220652842
Cited by
108
References
36
Citations by year
2026: 19 · 2025: 30 · 2024: 32 · 2023: 19 · 2022: 7 · 2012: 1
FWCI
18.54
Type
journal article
Language
en
Open access
Licence
Locations
  • European Journal of Endocrinology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, cc-by)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion, cc-by-sa)
  • Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
  • Leiden Repository (Leiden University) (submittedVersion, cc-by)
  • Florence Research (University of Florence) (submittedVersion, cc-by)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, cc-by)
  • Data Archiving and Networked Services (DANS) (submittedVersion, cc-by)
  • Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion, other-oa)
  • Työväentutkimus Vuosikirja (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
Funders
  • Università degli Studi di Firenze
  • Sorbonne Université
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
Keywords
puberty induction, sex hormone replacement, hypogonadotropic hypogonadism, estrogen therapy, testosterone replacement therapy, follicle-stimulating hormone, human chorionic gonadotropin, Klinefelter syndrome, androgen insensitivity syndrome, disorders of sex development, coming of age, multidisciplinary care, fertility
MeSH terms
Child, Female, Humans, Hypogonadism, Male, Pituitary Diseases, Puberty, Puberty, Delayed, Gonadal Steroid Hormones, Testosterone, Hormone Replacement Therapy, Young Adult

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