Endocrine Abstracts

Introduction: The global incidence of disorders of sex development (DSD) is estimated at 1:4500–1:5000 live births, higher rates have been reported in some regions, including Egypt. Diagnosis often requires a multidisciplinary approach; however, limited access to advanced genomic technologies in resource-limited settings frequently necessitates reliance on hormonal evaluation and imaging. This study aims to describe the clinical profile, etiological spectrum, diagnostic approach, and management of Egyptian patients with DSD presenting to tertiary centers in Cairo and Alexandria.

Patients and methods: This cross-sectional study included 161 Egyptian patients aged 0–18 years with suspected DSD presenting to Pediatric Endocrinology Clinics at Cairo and Alexandria University hospitals. All patients underwent detailed clinical evaluation, genital assessment using the Prader scale or External Masculinization Score, karyotyping, and hormonal testing. Selected cases underwent hCG stimulation testing and AMH measurement. Radiological and surgical findings were reviewed when available.

Results: Among 161 patients, 78 (48.5%) had 46, XY DSD and 78 (48.5%) had 46, XX DSD, while chromosomal DSD were identified in four patients (2.4%) and 46, XXY in one patient (0.6%). The median age at presentation was 12 months (range 0.1–204 months). Consanguinity was reported in 29.2% of patients and 14.9% had a positive family history. In 46, XY DSD, defects in androgen synthesis or action were the most common etiologies (41%), predominantly androgen insensitivity syndrome (32%). The most frequent presenting features were hypospadias (70.5%), micropenis (51.3%), and impalpable gonads whether unilateral (21.8%) or bilateral (41.0%). In 46, XX DSD, the majority of patients (76/78) had classic congenital adrenal hyperplasia, 80% due to 21-hydroxylase deficiency.

Conclusion: DSD in our cohort showed a heterogeneous clinical spectrum with nearly equal proportions of 46, XY and 46, XX DSD. Congenital adrenal hyperplasia was the predominant cause of 46, XX DSD, while androgen synthesis or action defects, particularly androgen insensitivity syndrome, were the leading causes of 46, XY DSD. The wide age at presentation highlights delays in recognition. In resource-limited settings, accurate clinical assessment and targeted hormonal evaluation remain essential for diagnosis, emphasizing the need to expand access to specialized multidisciplinary care and molecular diagnostics.

Key words: Disorders of sex development; Etiology; Clinical profile; Pediatric; Egypt