Etiological classification of patients with Ambiguous genitalia: A cross-sectional Study

Document Type : Original Article

Authors

1 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

4 Depatment of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

5 Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

6 Department of Endocrinology and Adult Metabolism, University of Kerman, Kerman, Iran

Abstract

Backgrounds: Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical
Objective: The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia.
Methods: This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study. Five patients were excluded who did not have final diagnosis of ambiguous genitalia.
Result: Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguous as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD.
Conclusions: Ambiguous genitalia had various etiologies. Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.

Keywords

References

  1. Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T, et al. Management of disorders of sex development. Nat Rev Endocrinol. 2014;10(9):520-9.
  2. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89(5):401-7.
  3. Armanian AM, Kelishadi R, Ardalan G, Taslimi M, Taheri M, Motlagh ME. Prevalence of genitalia malformation in Iranian children: findings of a nationwide screening survey at school entry. Adv Biomed Res. 2014;3:36.
  4. Wisniewski AB. Psychosocial implications of disorders of sex development treatment for parents. Curr Opin Urol. 2017;27(1):11-3.
  5. GHANEI A, MOHAMMADZADE G, ZAREPUR E, SOHEYLIKHAH S. CONGENITAL ADRENAL HYPERPLASIA AND VANISHING TESTIS: RARE CASE OF MALE PSEUDOHERMAPHRODITISM. INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE). 2016;14(3):-.
  6. Erdoğan S, Kara C, Uçaktürk A, Aydın M. Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol. 2011;3(2):77-83.
  7. Kliegman RE. Nelson textbook of pediatrics. Edition 21. ed.   Philadelphia, PA : Elsevier, [2020]            
  8. Hughes IA. Consequences of the Chicago DSD Consensus: A Personal Perspective. Horm Metab Res. 2015;47(5):394-400.
  9. Bertelloni S, Tyutyusheva N, Valiani M, D'Alberton F, Baldinotti F, Caligo MA, et al. Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype. Front Pediatr. 2021;9:627281.
  10. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016;85(3):158-80.
  11. Kutney K, Konczal L, Kaminski B, Uli N. Challenges in the diagnosis and management of disorders of sex development. Birth Defects Res C Embryo Today. 2016;108(4):293-308.
  12. van der Zwan YG, Biermann K, Wolffenbuttel KP, Cools M, Looijenga LH. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2015;67(4):692-701.
  13. Ono M, Harley VR. Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol. 2013;9(2):79-91.
  14. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet. 2013;83(1):35-43.
  15. Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: a study of 194 cases. Endocr Connect. 2018;7(2):364-71.
  16. Shamma RA, Atef S, Arafa N. Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience. Endokrynol Pol. 2021;72(5):558-65.
  17. Kohva E, Miettinen PJ, Taskinen S, Hero M, Tarkkanen A, Raivio T. Disorders of sex development: timing of diagnosis and management in a single large tertiary center. Endocr Connect. 2018;7(4):595-603.
  18. Dar SA, Nazir M, Lone R, Sameen D, Ahmad I, Wani WA, et al. Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. Indian J Endocrinol Metab. 2018;22(6):774-9.
  19. Al-Jurayyan NA. Ambiguous genitalia: two decades of experience. Ann Saudi Med. 2011;31(3):284-8.
  20. Ganie Y, Aldous C, Balakrishna Y, Wiersma R. The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience. Horm Res Paediatr. 2017;87(5):307-14.
  21. Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, et al. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf). 2016;85(2):247-57.
  22. Misgar RA, Bhat MH, Masoodi SR, Bashir MI, Wani AI, Baba AA, et al. Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. Indian J Endocrinol Metab. 2019;23(5):575-9.
  23. Witchel SF. Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol. 2017;30(5):520-34.
  24. Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N. Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India. Indian J Endocrinol Metab. 2021;25(1):48-53.
  25. Ozsu E, Mutlu GY, Cizmecioglu FM, Ekingen G, Muezzinoglu B, Hatun S. Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype. J Pediatr Endocrinol Metab. 2013;26(7-8):789-91.
World Journal of Peri and Neonatology

Articles in Press, Accepted Manuscript
Available Online from 30 June 2022

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  • Receive Date: 30 June 2022
  • Accept Date: 30 June 2022
  • First Publish Date: 30 June 2022

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