Spectrum of disorders of sexual development in Duhok, Iraq (2012–2022): molecular and clinical profile with surgical outcomes
Mohammed Aldabbagh, Qadir Salih, Hazhmat Ali, Shelan RasoolAbstract
Objectives
This study investigates the spectrum of disorders of sexual development (DSD) cases documented in Duhok Governorate, Iraq, from 2012 to 2022. It further characterizes the molecular and clinical profiles of treated patients and evaluates their surgical outcomes.
Methods
Data were retrospectively collected from 52 DSD pediatric patients (0–18 years). Each patient underwent a comprehensive physical assessment and a diagnostic workup, including chromosomal analysis (karyotyping) and hormonal profiling. Endoscopic assessment was performed when further anatomical clarification was required. A multidisciplinary team evaluated each case to reach consensus on diagnosis, gender assignment, and management plans. Surgical interventions and non-surgical management, such as hormone replacement therapy, were provided as indicated. Postoperative follow-up protocols were implemented to monitor surgical outcomes.
Results
The prevalence of DSD was 28.7 per 10,000. Most cases (48.1 %) were diagnosed with congenital adrenal hyperplasia (CAH), followed by partial androgen insensitivity syndrome (PAIS, 23.1 %), complete androgen insensitivity syndrome (CAIS, 7.6 %), Persistent Müllerian Duct Syndrome (PMDS, 5.8 %), and Turner syndrome (1.9 %). The XX DSD group exhibited a higher proportion of CAH diagnoses, while the XY group had higher proportions of PAIS, CAIS, and PMDS. This difference was statistically significant (phi=0.715, p=0.003).
Conclusions
This decade-long pediatric surgical experience in Duhok demonstrates that pediatricians and surgeons can accurately diagnose DSD categories, deliver care aligned with international standards, and achieve improved surgical outcomes. Future research should prioritize standardized psychosocial assessments and sustained investment to translate genomic advances into equitable, evidence-based care worldwide.