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Cited by 12Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications

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Concolino, Paola, Falhammar, Henrik·2025·Journal of the Endocrine Society
DOI 10.1210/jendso/bvaf018PMC PMC11795198
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Abstract

Of all congenital adrenal hyperplasia (CAH), 95% to 99% is 21-hydroxylase deficiency (21OHD), an autosomal recessive disease. 21OHD is due to an insufficiency of 21-hydroxylase enzyme, which is encoded by the CYP21A2 gene and involved in cortisol and aldosterone production. The clinical presentation differs widely from severe classic to mild nonclassic CAH. 21OHD represents one of the most complex and at the same time intriguing topics in human genetics and its molecular diagnosis involves ongoing challenges. To provide a meticulous presentation of the topic, we searched the past and present literature, including original articles and reviews from PubMed, ScienceDirect, Web of Science, Embase, and Scopus, using search terms for genetics of 21OHD, 21OHD variants, molecular diagnosis of 21OHD, and 21OHD genetic testing. We offer a comprehensive review focusing on recent developments, new concepts, and conclusions.

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  • Microconversion events, in which one or more deleterious pseudogene-derived variants are transferred into CYP21A2 during meiosis, represent 70-75% of all cases.

    “Among these, microconversion events, in which one or more deleterious pseudogene-derived variants are transferred into CYP21A2 during meiosis, represent 70–75% of all cases (5, 16, 19, 20).”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [16]

    The Disease-Causing Variants section says microconversions transfer deleterious pseudogene variants into CYP21A2 and represent 70%–75% of intergenic recombination events. It says those events account for over 95% of deleterious variants leading to 21-hydroxylase deficiency, so the stated 70%–75% denominator is not explicitly all cases. The Genetic Background section links recombination in this region to meiosis. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Population-based studies reveal rare or population-specific alleles, highlighting extensive allelic heterogeneity of 21-OHD and the necessity of using ethnically tailored genetic panels for accurate diagnosis and effective genetic counseling.

    “Nevertheless, population-based studies continue to reveal rare or population-specific alleles, highlighting the extensive allelic heterogeneity of 21-OHD and the necessity of using ethnically tailored genetic panels for accurate diagnosis and effective genetic counseling (5, 16, 19, 22, 28, 33–35).”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [16]

    Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.

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  • 90-95% of pathogenic CYP21A2 variants arise from intergenic recombination between the active gene and its pseudogene within the RCCX module.

    “Overall, 90–95% of pathogenic CYP21A2 variants arise from intergenic recombination between the active gene and its pseudogene within the RCCX module.”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [16]

    The Disease-Causing Variants section attributes the great majority of deleterious variants to intergenic recombination involving CYP21A2 and its pseudogene, and the Gene Locus Structure section places those genes in the RCCX region. The source gives the overall figure as “over 95%,” however, rather than the claimed 90–95%. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • When combined with MLPA for copy number analysis, Sanger sequencing provides nearly complete diagnostic coverage, identifying up to 98-99% of classical pathogenic alleles in most populations.

    “When combined with complementary methods such MLPA for copy number analysis, it provides nearly complete diagnostic coverage, identifying up to 98-99% of classical pathogenic alleles in most populations (1, 16, 76).”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [16]

    The Molecular Diagnosis of 21OHD section calls PCR-based sequence analysis combined with MLPA best-practice genotyping and says MLPA determines gene copy number. It does not specify Sanger sequencing or report that the combination identifies 98–99% of classical pathogenic alleles in most populations; the numerical coverage claim is unsupported by our copy. No page number is available in the indexed passages. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Noninvasive cell-free fetal DNA testing enables fetal sex determination and genotyping as early as 4-5 weeks of gestation, allowing prenatal therapy to be limited to affected females only.

    “Noninvasive cell-free fetal DNA testing enables fetal sex determination and genotyping as early as 4–5 weeks of gestation, allowing prenatal therapy to be limited to affected females only (16, 100).”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [16]

    The Prenatal Diagnosis section says cell-free fetal DNA is detectable in the fourth or fifth gestational week and can determine fetal sex by the fifth week. It reports fetal CAH status correctly determined by 5 weeks and 6 days, not genotyping at 4–5 weeks. It also says treatment should be considered for affected female fetuses, but cautions that prenatal dexamethasone is controversial and should be given only in an ethically approved follow-up study. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

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Research works printed but not linked: 72

  1. [1]El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017; 390(10108): 2194‐ 2210. 28576284
  2. [2]Speiser PW, Arlt W, Auchus RJ, et al Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018; 103(11): 4043‐ 4088. 30272171 PMC6456929
  3. [4]Kuhnle U, Chow D, Rapaport R, Pang S, Levine LS, New MI. The 21-hydroxylase activity in the Glomerulosa and Fasciculata of the adrenal Cortex in congenital adrenal hyperplasia*. J Clin Endocrinol Metab. 1981; 52(3): 534‐ 544. 6257750
  4. [5]Falhammar H, Thoren M. Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine. 2012; 41(3): 355‐ 373. 22228497
  5. [6]Colby HD, Levitt M, Pope MR, Johnson PB. Differential effects of adrenocorticotropic hormone on steroid hydroxylase activities in the inner and outer zones of the Guinea pig adrenal cortex. J Steroid Biochem Mol Biol. 1992; 42(3-4): 329‐ 335. 1318735
  6. [7]Karlmar KE. In vitro conversion of cholesterol into aldosterone and cortisol in different zones of the bovine adrenal cortex. Acta Endocrinol (Copenh). 1982; 101(3): 436‐ 441. 6959465
  7. [8]Eacho PI, Colby HD. Differences in microsomal steroid metabolism between the inner and outer zones of the Guinea pig adrenal cortex. Endocrinology. 1985; 116(2): 536‐ 541. 3917903
  8. [10]Lajic S, Karlsson L, Zetterstrom RH, Falhammar H, Nordenstrom A. The success of a screening program is largely dependent on close collaboration between the laboratory and the clinical follow-up of the patients. Int J Neonatal Screen. 2020; 6(3): 68. 33117907 PMC7569867
  9. [11]Castro SM, Wiest P, Spritzer PM, Kopacek C. The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in southern Brazil: 3 years’ experience. Endocr Connect. 2023; 12(12): e230162. 37902057 PMC10620452
  10. [12]Castro PS, Rassi TO, Araujo RF, et al High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening. J Pediatr Endocrinol Metab. 2019; 32(5): 499‐ 504. 31028712
  11. [13]Conlon TA, Hawkes CP, Brady JJ, Loeber JG, Murphy N. International newborn screening practices for the early detection of congenital adrenal hyperplasia. Horm Res Paediatr. 2024; 97(2): 113‐ 125. 37231960
  12. [15]Nordenstrom A, Falhammar H, Lajic S. Current and novel treatment strategies in children with congenital adrenal hyperplasia. Horm Res Paediatr. 2022; 96(6): 560‐ 572. 35086098
  13. [17]Auer MK, Minea CE, Quinkler M, et al Women with congenital adrenal hyperplasia have favorable pregnancy outcomes but prolonged time to conceive. J Endocr Soc. 2024; 9(1): bvae211. 39669654 PMC11635451
  14. [18]Nordenstrom A, Lajic S, Falhammar H. Long-Term outcomes of congenital adrenal hyperplasia. Endocrinol Metab (Seoul). 2022; 37(4): 587‐ 598. 35799332 PMC9449109
  15. [20]Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N. MANAGEMENT OF ENDOCRINE DISEASE: gonadal dysfunction in congenital adrenal hyperplasia. Eur J Endocrinol. 2021; 184(3): R85‐ R97. 33320831
  16. [22]Auchus RJ, Hamidi O, Pivonello R, et al Phase 3 trial of crinecerfont in adult congenital adrenal hyperplasia. N Engl J Med. 2024; 391(6): 504‐ 514. 38828955 PMC11309900
  17. [23]Marino S, Perez Garrido N, Ramirez P, et al Molecular analysis of the CYP21A2 gene in dried blood spot samples. Medicina (B Aires). 2020; 80(3): 197‐ 202. 32442933
  18. [24]Nemeth S, Riedl S, Kriegshauser G, et al Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. Clin Chim Acta. 2012; 414: 211‐ 214. 22985688
  19. [25]Banlaki Z, Szabo JA, Szilagyi A, et al Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. Genome Biol Evol. 2013; 5(1): 98‐ 112. 23241443 PMC3595039
  20. [26]Horton R, Wilming L, Rand V, et al Gene map of the extended human MHC. Nat Rev Genet. 2004; 5(12): 889‐ 899. 15573121
  21. [27]Doleschall M, Luczay A, Koncz K, et al A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics. Eur J Hum Genet. 2017; 25(6): 702‐ 710. 28401898 PMC5477366
  22. [28]Blanchong CA, Zhou B, Rupert KL, et al Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med. 2000; 191(12): 2183‐ 2196. 10859342 PMC2193198
  23. [30]Shen L, Wu LC, Sanlioglu S, et al Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J Biol Chem. 1994; 269(11): 8466‐ 8476. 8132574
  24. [31]Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol. 1993; 122(1): 265‐ 278. 7686164 PMC2119596
  25. [32]Gitelman SE, Bristow J, Miller WL. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol Cell Biol. 1992; 12(5): 2124‐ 2134. 1373808 PMC364384
  26. [34]Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci U S A. 1986; 83(9): 2841‐ 2845. 3486422 PMC323402
  27. [36]Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005; 1(6): e49. 16444292 PMC1352149
  28. [37]Chen JM, Ferec C, Cooper DN. Gene conversion in human genetic disease. Genes (Basel). 2010; 1(3): 550‐ 563. 24710102 PMC3966225
  29. [38]Loidi L, Quinteiro C, Parajes S, et al High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect. Clin Endocrinol (Oxf). 2006; 64(3): 330‐ 336. 16487445
  30. [39]Toraman B, Okten A, Kalay E, et al Investigation of CYP21A2 mutations in turkish patients with 21-hydroxylase deficiency and a novel founder mutation. Gene. 2013; 513(1): 202‐ 208. 23142378
  31. [40]Lee Y-J, Tsai L-P, Niu D-M, Shu S-G, Chao M-C, Lee H-H. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency. Mol Genet Metab. 2009; 97(1): 75‐ 79. 19201236
  32. [41]de Carvalho DF, Miranda MC, Gomes LG, et al Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction. Eur J Endocrinol. 2016; 175(2): 107‐ 116. 27185867
  33. [42]White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000; 21(3): 245‐ 291. 10857554
  34. [45]L'Allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2000; 85(12): 4562‐ 4567. 11134109
  35. [47]Concolino P, Falhammar H. CAH-X Syndrome: genetic and clinical profile. Mol Diagn Ther. 2022; 26(3): 293‐ 300. 35476220
  36. [49]Wedell A, Stengler B, Luthman H. Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency. Hum Genet. 1994; 94(1): 50‐ 54. 8034294
  37. [51]Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Dominguez Alonso E, Falhammar H. Genotype-Phenotype correlation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Cuba. Int J Endocrinol. 2021; 2021: 9316284. 33505466 PMC7806372
  38. [52]Speiser PW, Dupont J, Zhu D, et al Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest. 1992; 90(2): 584‐ 595. 1644925 PMC443137
  39. [53]Khattab A, Yuen T, Al-Malki S, et al A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance. Ann N Y Acad Sci. 2016; 1364(1): 5‐ 10. 26291314 PMC4761329
  40. [57]Kocova M, Anastasovska V, Falhammar H. Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine. 2020; 69(2): 262‐ 277. 32367336 PMC7392929
  41. [59]Huang N, Agrawal V, Giacomini KM, Miller WL. Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A. 2008; 105(5): 1733‐ 1738. 18230729 PMC2234213
  42. [60]Ezquieta B, Beneyto M, Munoz-Pacheco R, et al Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis. Prenat Diagn. 2006; 26(12): 1172‐ 1178. 17042033
  43. [63]Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Congenital adrenal hyperplasia and Ehlers-Danlos syndrome. Front Endocrinol (Lausanne). 2022; 13: 803226. 35282436 PMC8913572
  44. [64]Morissette R, Chen W, Perritt AF, et al Broadening the Spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2015; 100(8): E1143‐ E1152. 26075496 PMC4525000
  45. [68]Paragliola RM, Perrucci A, Foca L, Urbani A, Concolino P. Prevalence of CAH-X syndrome in Italian patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. J Clin Med. 2022; 11(13): 3818. 35807105 PMC9267771
  46. [69]Figueras LM, Pacheco RM, Gonzalez DG, Domenech MA, Zubicaray BE. Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population. Adv Lab Med. 2023; 4(3): 258‐ 267. 38075167 PMC10701499
  47. [70]Lao Q, Merke DP. Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras. Eur J Hum Genet. 2021; 29(7): 1047‐ 1048. 33824469 PMC8298381
  48. [71]Baumgartner-Parzer S, Witsch-Baumgartner M, Hoeppner W. Reply to Lao Q and merke DP. Eur J Hum Genet. 2021; 29(7): 1045‐ 1046. 33824470 PMC8298498
  49. [72]Concolino P. Challenging molecular diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: case series and novel variants of CYP21A2 gene. Curr Issues Mol Biol. 2024; 46(5): 4832‐ 4844. 38785559 PMC11119849
  50. [73]Lee HH, Lee YJ, Lin CY. PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module. Genomics. 2004; 83(5): 944‐ 950. 15081125
  51. [74]Tsai LP, Cheng CF, Chuang SH, Lee HH. Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes. Anal Biochem. 2011; 413(2): 133‐ 141. 21324303
  52. [75]Correa FA, Franca MM, Fang Q, et al Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. Arch Endocrinol Metab. 2017; 61(6): 633‐ 636. 29412390 PMC5806044
  53. [76]Girgis HS, DuPai CD, Lund J, et al Single-molecule nanopore sequencing reveals extreme target copy number heterogeneity in arylomycin-resistant mutants. Proc Natl Acad Sci U S A. 2021; 118(1): e2021958118. 33443214 PMC7817135
  54. [78]Yau M, Khattab A, New MI. Prenatal diagnosis of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2016; 45(2): 267‐ 281. 27241964
  55. [79]Kazmi D, Bailey J, Yau M, et al New developments in prenatal diagnosis of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2017; 165(Pt A): 121‐ 123. 27378492
  56. [80]Mao R, Nelson L, Kates R, et al Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Prenat Diagn. 2002; 22(13): 1171‐ 1176. 12478627
  57. [81]Day DJ, Speiser PW, Schulze E, et al Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet. 1996; 5(12): 2039‐ 2048. 8968761
  58. [82]Simpson JL, Rechitsky S. Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril. 2019; 111(1): 21‐ 23. 30611408
  59. [83]Tardy-Guidollet V, Menassa R, Costa JM, et al New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: french cohort of 258 cases (2002-2011). J Clin Endocrinol Metab. 2014; 99(4): 1180‐ 1188. 24471566
  60. [84]Guetta E. Noninvasive detection of fetal sex: the laboratory diagnostician's view. Prenat Diagn. 2006; 26(7): 635‐ 636. 16856226
  61. [85]Wright CF, Wei Y, Higgins JP, Sagoo GS. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes. 2012; 5(1): 476. 22937795 PMC3444439
  62. [86]Kazachkova N, Gontar J, Verlinsky O, Ilyin I. Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: a pilot study. Eur J Obstet Gynecol Reprod Biol X. 2019; 3: 100038. 31403126 PMC6687385
  63. [88]Frisen L, Nordenstrom A, Falhammar H, et al Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab. 2009; 94(9): 3432‐ 3439. 19567521
  64. [89]Daae E, Feragen KB, Waehre A, Nermoen I, Falhammar H. Sexual orientation in individuals with congenital adrenal hyperplasia: a systematic review. Front Behav Neurosci. 2020; 14: 38. 32231525 PMC7082355
  65. [90]Hirschberg AL, Gidlof S, Falhammar H, et al Reproductive and perinatal outcomes in women with congenital adrenal hyperplasia: a population-based cohort study. J Clin Endocrinol Metab. 2021; 106(2): e957‐ e965. 33135723
  66. [93]Falhammar H, Frisen L, Norrby C, et al Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014; 99(12): E2715‐ E2721. 25279502
  67. [94]Falhammar H, Butwicka A, Landen M, et al Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014; 99(3): E554‐ E560. 24302749
  68. [95]Engberg H, Butwicka A, Nordenstrom A, et al Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: a total population study. Psychoneuroendocrinology. 2015; 60: 195‐ 205. 26184920
  69. [97]Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H. Cardiometabolic aspects of congenital adrenal hyperplasia. Endocr Rev. 2025; 46(1): 80‐ 148. 39240753 PMC11720181
  70. [98]Falhammar H, Frisen L, Hirschberg AL, Nordenskjold A, Almqvist C, Nordenstrom A. Increased risk of autoimmune disorders in 21-hydroxylase deficiency: a Swedish population-based national cohort study. J Endocr Soc. 2019; 3(5): 1039‐ 1052. 31065621 PMC6497917
  71. [99]Falhammar H, Hirschberg AL, Nordenskjold A, Larsson H, Nordenstrom A. Increased prevalence of accidents and injuries in congenital adrenal hyperplasia: a population-based cohort study. J Clin Endocrinol Metab. 2024; 109(3): e1175‐ e1184. 37862468 PMC10876393
  72. [100]Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Dominguez Alonso E, Falhammar H. Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. BMC Endocr Disord. 2020; 20(1): 165. 33168061 PMC7653887

Cited by

Sorted by citations

Authors
Concolino, P., & Falhammar, H.
Affiliations
  • Agostino Gemelli University Polyclinic (IT)
  • Karolinska University Hospital (SE)
Corresponding author
Falhammar, Henrik
ORCID
Venue
Journal of the Endocrine Society
Publisher
The Endocrine Society
Published
2025-01-28
Volume
9
Issue
3
Pages
bvaf018-bvaf018
ISSN
2472-1972 (ISSN-L)
DOI
10.1210/jendso/bvaf018
PMC
PMC11795198
OpenAlex
W4406913133
Cited by
12
References
28
Citations by year
2026: 10 · 2025: 2
FWCI
1.06
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of the Endocrine Society (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Magnus Bergvall's Foundation
  • Stockholm County Council
  • Karolinska Institutet
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 gene, autosomal recessive inheritance, molecular diagnosis, genetic testing

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