open access

Vol 72, No 5 (2021)
Original paper
Submitted: 2021-03-01
Accepted: 2021-04-04
Published online: 2021-05-05
Get Citation

Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience

Radwa A. Shamma1, Shimaa Atef1, Noha Arafa1
·
Pubmed: 34010442
·
Endokrynol Pol 2021;72(5):558-565.
Affiliations
  1. The Diabetes Endocrine, Metabolism Paediatric Unit (DEMPU), Children’s Hospital, Department of Paediatrics, Faculty of Medicine, Cairo University, Egypt

open access

Vol 72, No 5 (2021)
Original Paper
Submitted: 2021-03-01
Accepted: 2021-04-04
Published online: 2021-05-05

Abstract

Introduction: The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo.

Material and methods: The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile.

Results: Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters.

Conclusion: Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.

Abstract

Introduction: The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo.

Material and methods: The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile.

Results: Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters.

Conclusion: Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.

Get Citation

Keywords

disorders of sex development; aetiology; clinical profile; paediatric; Egypt

About this article
Title

Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience

Journal

Endokrynologia Polska

Issue

Vol 72, No 5 (2021)

Article type

Original paper

Pages

558-565

Published online

2021-05-05

Page views

6557

Article views/downloads

563

DOI

10.5603/EP.a2021.0045

Pubmed

34010442

Bibliographic record

Endokrynol Pol 2021;72(5):558-565.

Keywords

disorders of sex development
aetiology
clinical profile
paediatric
Egypt

Authors

Radwa A. Shamma
Shimaa Atef
Noha Arafa

References (27)
  1. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004; 89(5): 401–407.
  2. Lee PA, Houk CP, Ahmed SF, et al. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006; 118(2): e488–e500.
  3. Ahmed SF, Achermann JC, Arlt W, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol (Oxf). 2011; 75(1): 12–26.
  4. Temtamy S, Abdel MN, Mazen I, et al. A genetic epidemiological study of malformations at birth in Egypt. East Med Health J. 1998; 4: 252–59.
  5. Lee PA, Nordenström A, Houk CP, et al. Global DSD Update Consortium. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016; 85(3): 158–180.
  6. van der Zwan YG, Biermann K, Wolffenbuttel KP, et al. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2015; 67(4): 692–701.
  7. Aaronson IA. Micropenis: medical and surgical implications. J Urol. 1994; 152(1): 4–14.
  8. Jorge JC, Echeverri C, Medina Y, et al. Male gender identity in an XX individual with congenital adrenal hyperplasia. J Sex Med. 2008; 5(1): 122–131.
  9. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int. 2000; 85(1): 120–124.
  10. Ahmed SF, Keir L, McNeilly J, et al. The concordance between serum anti-Mullerian hormone and testosterone concentrations depends on duration of hCG stimulation in boys undergoing investigation of gonadal function. Clin Endocrinol (Oxf). 2010; 72(6): 814–819.
  11. Segal TY, Mehta A, Anazodo A, et al. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab. 2009; 94(3): 780–785.
  12. Maimoun L, Philibert P, Cammas B, et al. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab. 2011; 96(2): 296–307.
  13. Achermann JC, Hughes IA. Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS. ed. Williams Textbook of Endocrinology 11th ed. Saunders, Philadelphia 2008: 783–848.
  14. Mazen I, El-Ruby M, Kamal R, et al. Screening of genital anomalies in newborns and infants in two egyptian governorates. Horm Res Paediatr. 2010; 73(6): 438–442.
  15. Erdoğan S, Kara C, Uçaktürk A, et al. Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol. 2011; 3: 77–83.
  16. Amolo P, Laigong P, Omar A, et al. Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents. Int J Endocrinol. 2019; 2019: 2985347.
  17. Al-Mutair A, Iqbal MA, Sakati N, et al. Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. Ann Saudi Med. 2004; 24(5): 368–372.
  18. Ganie Y, Aldous C, Balakrishna Y, et al. Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre. J Pediatr Endocrinol Metab. 2017; 30(1): 11–18.
  19. Hughes IA, Houk C, Ahmed SF, et al. LWPES Consensus Group, ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006; 91(7): 554–563.
  20. Ganie Y, Aldous C, Balakrishna Y, et al. Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre. J Pediatr Endocrinol Metab. 2017; 30(1): 11–18.
  21. Abdullah MA, Saeed U, Abass A, et al. Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic. J Pediatr Endocrinol Metab. 2012; 25(11-12): 1065–1072.
  22. Mazen I, Hiort O, Bassiouny R, et al. Differential diagnosis of disorders of sex development in Egypt. Horm Res. 2008; 70(2): 118–123.
  23. Speiser PW. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinol Metab Clin North Am. 2001; 30(1): 31–59, vi.
  24. Dar SA, Nazir M, Lone R, et al. Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. Indian J Endocrinol Metab. 2018; 22(6): 774–779.
  25. Nasir AA, Abdur-Rahman LO, Adesiyun OO, et al. Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital. J Pediatr Adolesc Gynecol. 2019; 32(1): 21–26.
  26. Al-Agha AE, Thomsett MJ, Batch JA. The child of uncertain sex: 17 years of experience. J Paediatr Child Health. 2001; 37(4): 348–351.
  27. Sabra AM. Consanguineous Marriage among Egyptian Youth: Secondary Analysis of Survey of Young People in Egypt, 2014. Egypt J Commun Med. 2017; 35(2): 85–94.

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Via MedicaWydawcą jest  VM Media Group sp. z o.o., Grupa Via Medica, ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl