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Cited by 12Sexual Differentiation and DisordersLGBTQ Health, Identity, and PolicyUrological Disorders and Treatments

Quality of life in late-treated patients with disorders of sex development: insights for patient-centered care

Open access
Ediati, Annastasia, Verrips, Gijsbert H. W., Juniarto, Achmad Zulfa, Faradz, Sultana M. H., Drop, Stenvert L. S., Dessens, Arianne B.·2019·Frontiers in Pediatrics
DOI 10.3389/fped.2018.00434PMC PMC6371023
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Abstract

Background: Patients with a disorder of sex development (DSD) are born with atypical genitals or may develop atypical genitals and atypical body appearance, if left untreated. Health related quality of life (HRQoL) was assessed in Indonesian patients to whom diagnostic procedures and medical intervention had been delayed. Method: Comparison of 118 patients born with DSD, aged 6-41 years (60 children, 24 adolescents, and 34 adults) and 118 healthy control subjects matched for gender, age, and residential setting. HRQoL was measured using a translation of the TACQOL / TAAQOL. Results: According to parental and children’s report, children with DSD reported more problems in social functioning and had less positive moods. Particularly girls reported problems in cognitive functioning. Adult patients reported more depressive moods, especially women reported more anger moods. No differences were found between in the adolescent groups. Conclusion: Compared to non-affected Indonesians, Indonesians with DSD experienced more problems in social contacts and more often suffered from negative emotions. These findings on HRQoL are in line with findings on emotional functioning. Education on disease and coping strategies will facilitate patients’ empowerment. Such interventions can be offered by specialized teams and should be integrated into clinical management.

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  • Hormonal assays for diagnosis and follow-up have limited availability and are expensive.

    “Hormonal assays for diagnosis and follow-up have limited availability and are expensive (730,733).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [733]

    The Introduction (page unavailable) reports inadequate laboratory support in studies of Asian patients with DSD, which lends some support to limited test availability. It does not specifically say that hormonal assays for diagnosis or follow-up are scarce or expensive; its affordability statements concern medications. (LLM, conf=0.78)

    Experimental — accuracy not yet measured

  • Many developing countries also face poverty and insufficient basic medical knowledge.

    “Moreover, many developing countries also face poverty and insufficient basic medical knowledge (556,733).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [733]

    The Introduction (page not provided) says studies of Asian patients with disorders of sex development focused on poverty and poor basic medical knowledge. That supports the concerns named in the claim, but the paper does not establish that they affect many developing countries generally. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • Needed medications may be available only on the black market.

    “Needed medications may be available only on the black market (137,556,733).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [733]

    The Discussion (page unavailable) identifies a lack of affordable and available medication as a concern for Indonesian patients with disorders of sex development. It does not say that needed medications are available only on the black market; that part of the claim is unsupported by our copy. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • Pediatric endocrinologists are scarce, and late referral to specialized centers may delay diagnosis and treatment.

    “Pediatric endocrinologists are scarce (560,730,733), and late referral to specialized centers may delay diagnosis and treatment.”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [733]

    The citation is attached to the claim that pediatric endocrinologists are scarce. The Introduction describes delayed care for Indonesian patients with DSD, and the Discussion mentions limited medical knowledge and resources, but neither states that pediatric endocrinologists are scarce. Searches for a shortage of pediatric endocrinologists and limited specialist availability found no supporting passage in our copy. (LLM, conf=0.72)

    Experimental — accuracy not yet measured

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Cites

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Research works printed but not linked: 29

  1. [1]Lee PA Houk CP Ahmed SF Hughes IA Consensus statement on management of intersex disorders. Pediatrics (2006) 118: e488– 500. 10.1542/peds.2006-0738 16882788 · DOI · Paper page
  2. [2]Lee PA Nordenström A Houk CP Ahmed SF Auchus R Baratz A. Global disorders of sex development update since 2006: Perceptions, approach and care. Horm Res Paediatr. (2016) 85: 158– 80. 10.1159/000442975 26820577 · DOI
  3. [3]Cassia Amaral RC Inacio M Brito VN Bachega TASS Oliveira AA Domenice S Quality of life in a large cohort of adult brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre. Clin Endocrinol. (2015) 82: 274– 9. 10.1111/cen.12572 25074426 · DOI
  4. [4]D'Alberton F Assante MT Foresti M Balsamo A Bertelloni S Dati E. Quality of life and psychological adjustment of women living with 46,XY differences of sex development. J Sex Med. (2015) 12: 1440– 9. 10.1111/jsm.12884 25893774 · DOI
  5. [5]de Neve-Enthoven NGM Callens N van Kuyk M van Kuppenveld JH Drop SLS Cohen-Kettenis PT Psychosocial well-being in dutch adults with disorders of sex development. J Psychosom Res. (2016) 83: 57– 64. 10.1016/j.jpsychores.2016.03.005 27020078 · DOI
  6. [6]Nordenström A. Psychosocial factors in disorders of sex development in a long-term perspective: what clinical opportunities are there to intervene? Horm Metab Res. (2015) 47: 351– 6. 10.1055/s-0034-1398562 25738997 · DOI
  7. [7]Selveindran NM Syed Zakaria SZ Jalaludin M Rasat R Quality of life in children with disorders of sex development. Horm Res Paediatr. (2017) 88: 324– 30. 10.1159/000478780 28965114 · DOI
  8. [8]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. J Pediatr Adolesc Gynecol. (2013) 26: 296– 304. 10.1016/j.jpag.2012.08.004 23507003 · DOI
  9. [9]Rapp M Mueller-Godeffroy E Lee P Roehle R Kreukels BPC Köhler B Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared ot country specific reference populations (dsd-LIFE). Health Qual Life Outcomes (2018) 16: 54 10.1186/s12955-018-0881-3 29615040 PMC5883311 · DOI
  10. [11]Jürgensen M Lux A Wien SB Kleinemeier E Hiort O Thyen U. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr. (2014) 173: 893– 903. 10.1007/s00431-014-2264-z 24469231 · DOI
  11. [12]Morgan JF Murphy H Lacey JH Conway G. Long term psychological outcome for women with congenital adrenal hyperplasia: cross sectional survey. BMJ (2005) 330: 340– 1. 10.1136/bmj.38334.427361.D3 15677365 PMC548728 · DOI
  12. [14]Ediati A Juniarto AZ Birnie E Drop SLS Faradz SMH Dessens AB. Body image and sexuality in indonesian adults with a disorder of sex development (DSD). J. Sex Res. (2015) 52: 15– 29. 10.1080/00224499.2013.816260 24144298 · DOI
  13. [15]Ediati A Juniarto AZ Birnie E Drop SLS Faradz SMH Dessens AB. Gender development in indonesian children, adolescents, and adults with disorders of sex development. Arch Sex Behav. (2015) 44: 1339– 61. 10.1007/s10508-015-0493-5 25813609 · DOI · Paper page
  14. [16]Ediati A Faradz SMH Juniarto AZ van der Ende J Drop SLS Dessens AB. Emotional and behavioral problems in late-identified indonesian patients with disorders of sex development. J Psychosom Res. (2015) 79: 76– 84. 10.1016/j.jpsychores.2014.12.007 25563666 · DOI · Paper page
  15. [17]Ediati A Juniarto AZ Birnie E Okkerse J Wisniewski A Drop S et al. Social stigmatisation in late identified patients with disorders of sex development in indonesia. BMJ Paediatr Open (2017) 30: e000130 10.1136/bmjpo-2017-000130 PMC5862183 29637149 · DOI
  16. [18]Juniarto AZ van der Zwan YG Santosa A Ariani MD Eggers S Hersmus R. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from indonesia. Clin Endocrinol. (2016) 85: 247– 57. 10.1111/cen.13051 26935236 · DOI
  17. [19]Juniarto AZ Setyawati BA Miranti IP Santosa A Hersmus R Stoop H. (2013). Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from semarang (Indonesia). J Clin Pathol. (2013) 66: 198– 204. 10.1136/jclinpath-2012-201062 23268320 · DOI
  18. [20]Juniarto AZ van der Zwan YG Santosa A Hersmus R de Jong FH Olmer R. Application of the new classification on patients with a disorder of sex development in indonesia. Int J Endocrinol. (2012) 2012: 237084. 10.1155/2012/237084 22253624 PMC3255103 · DOI
  19. [21]Vogels T Verrips GH Verloove-Vanhorick SP Fekkes M Kamphuis RP Koopman HM. Measuring health-related quality of life in children: the development of the TACQOL parent form. Qual Life Res. (1998) 7: 457– 65. 9691725
  20. [23]Fekkes M Kamphuis RP Ottenkamp J Verrips E Vogels T Kamphuis M Health-related quality of life in young adults with minor congenital heart disease. Psychol Health (2001) 16: 239– 50. 10.1080/08870440108405502 · DOI
  21. [24]Hutson JM Grover SR O'Connell M Pennell SD. Malformation syndromes associated with disorders of sex development. Nat Rev Endocrinol. (2014) 10: 476– 87. 10.1038/nrendo.2014.83 24913517 · DOI
  22. [25]Guillemin F Bombardier C Beaton D. Cross-cultural adaptation of health-related quality of life measures: literature review and proposed guidelines. J Clin Epidemiol. (1993) 46: 1417– 32. 8263569
  23. [28]Berenbaum SA Bryk KK Duck SC. Normal intelligence in female and male patients with congenital adrenal hyperplasia. Int J Pediatr Endocrinol. (2010) 2010: 853103. 10.1155/2010/853103 20976263 PMC2952913 · DOI
  24. [30]Collaer ML Hindmarsh PC Pastersk V Fane BA Hines M. Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance. Psychoneuroendocrinology (2016) 64: 164– 73. 10.1016/j.psyneuen.2015.11.010 26677764 PMC4771018 · DOI · Paper page
  25. [31]Hampson E Rovet JF. Spatial function in adolescents and young adults with congenital adrenal hyperplasia: clinical phenotype and implications for the androgen hypothesis. Psychoneuroendocrinology (2015) 54: 60– 70. 10.1016/j.psyneuen.2015.01.022 25686803 · DOI
  26. [32]Zhu D Hu L Wan X Li H You Q Gao L. J. Quality of life evaluation in juveniles with disorders of sexual development. Pediatr Surg Int. (2012) 28: 1119– 23. 10.1007/s00383-012-3182-7 23053598 · DOI
  27. [34]Schützmann K Brinkmann L Schacht M Richter-Appelt H. Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development. Arch Sex Behav. (2009) 38: 16– 33. 10.1007/s10508-007-9241-9 17943433 · DOI
  28. [35]Hofstede G Culture's consequences: Comparing values, behavior, institutions. and organizations across nation. Thousands Oak, CA: SAGE Publication (2001).
  29. [36]Mulder N Individual and society in Java: A cultural analysis. Yogyakarta: Gadjah Mada University Press (1992)

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Authors
Ediati, A., Verrips, G. H. W., Juniarto, A. Z., Faradz, S. M. H., Drop, S. L. S., & Dessens, A. B.
Affiliations
  • Diponegoro University (ID)
  • Netherlands Organisation for Applied Scientific Research (NL)
  • Erasmus MC (NL)
Corresponding author
Dessens, Arianne B.
ORCID
Venue
Frontiers in Pediatrics
Publisher
Frontiers Media SA
Published
2019-01-30
Volume
6
Pages
434-434
ISSN
2296-2360 (ISSN-L)
DOI
10.3389/fped.2018.00434
PMC
PMC6371023
OpenAlex
W2911777260
Cited by
12
References
4
Citations by year
2025: 3 · 2024: 3 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 1
FWCI
0.41
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Pediatrics (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
  • UNDIP Institutional Repository (UNDIP-IR) (Diponegoro University) (acceptedVersion)
  • TNO Repository (submittedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Repository hosted by TU Delft Library (TU Delft) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Funders
Direktorat Jenderal Pendidikan Tinggi
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
  • Health Sciences › Medicine › Urology › Urological Disorders and Treatments
Keywords
disorders of sex development, health-related quality of life, delayed diagnosis, patient-centered care, social functioning, depressive mood, emotional functioning, cognitive function, gender differences, patient empowerment, Indonesian patients

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