Background: The incidence of Disorders of sex development (DSD) in Egypt was reported to be 1 in 3,000 live births. Late diagnosis, severe salt wasting with high morbidity and mortality, and inappropriate sex -assignment are challenging problems that constitute medical and social emergencies. Serum Anti Mullerian Hormone (AMH) and Inhibin B levels are possible tools for assessment of Sertoli cell function that can help early diagnosis of patients with suspected 46 XY DSD.
Objectives: To describe the different spectrum of clinical, laboratory and radiological findings in Egyptian infants and children with DSD following in Endocrine Unit, Cairo University and to assess value of AMH and Inhibin B in early diagnosis of 46 XY DSD
Methods: Retrospective analysis of the medical records of established DSD cases in addition to prospective analysis of data of newly diagnosed patients were performed and followed up for 2 years.
Results: A total of 451 cases of DSD were classified according to the DSD classification (Proposed by the international consensus conference on intersex). 46 XY DSD constituted 74.5% (n=336), 46 XX DSD 21.7% (n=98), while sex chromosome DSD constituted 2.7% (n=12). In patients with 46 XY DSD, the most common cause was partial androgen insensitivity/5 alfa reductase deficiency (45.2% n=204), while in 46XX DSD cases, congenital adrenal hyperplasia (24.2 %) constituted the commonest diagnosis with predominance to the salt losing 21 hydroxylase deficiency CAH (82.6%). Patients had various presentations: atypical genitalia was the most frequent complaint (76.7% n=346), other presentations included delayed puberty and salt losing manifestations. There was positive correlation between AMH level and the post hCG stimulation DHT and testosterone levels (P<0.001, r = 0.4). Moreover, there was positive correlation between levels of AMH and Inhibin B in patients with 46 XY DSD (P = 0.03 and r=0.3).
Conclusion: DSD is not uncommon in the Egyptian community. It requires early detection, appropriate investigations, and prompt treatment to avoid serious medical, psychological, and social sequelae. Inhibin B and AMH levels add valuable tools to the differential diagnosis of DSD, with low levels in global testicular disorders and normal or elevated levels in disorders of androgen biosynthesis or action.
Keywords: Disorders Of Sex Development, Atypical Genitalia, Congenital Adrenal Hyperplasia, Androgen Insensitivity Syndrome, Karyotype, Anti-Mullerian Hormone, Inhibin B
15 Sep 2022 - 17 Sep 2022