Background: Disorders of Sex Development (DSD) are conditions that arise from an abnormality of the typical structural, chromosomal and/or gonadal characteristics of sex development. The incidence of DSD is not well established in the Philippines and there is no published local data. The complex nature of DSD requires streamlined multidisciplinary team management and guidelines from the 2006 Consensus meeting have become the standard of care for patients. Objective: The study describes the phenotype, biochemical, diagnostic and management profiles of patients with Disorders of Sex Development (DSD) excluding congenital adrenal hyperplasia (CAH) at the Philippine General Hospital, a tertiary care medical facility. Methods: Medical records of patients with DSD seen at the Division of Clinical Genetics from 2012-2016 were reviewed. Histories, demographic profiles, clinical features, co-existing health conditions, laboratory, imaging results, and interventions (medical or surgical) were recorded into a clinical report form. Results: Fifty-five (55) patient charts were included of all the patients with DSD listed in the registry. The neonatal period was the most common time DSD was first noted (69.09%). Most (58.18%) were assigned the male sex. The most common genital anomalies were hypospadias (45.45%), cryptorchidism (21.82%), and micropenis (12.73%). Associated health conditions included multiple congenital anomalies (32.73%), genitourinary with or without gastrointestinal anomalies (16.36%) and dysmorphic features (12.73%). Among 28 patients with karyotypes, there were 12 patients with sex chromosome DSD; two 46, XX DSD and fourteen 46, XY DSD. Four patients were prescribed hydrocortisone, three of whom had higher levels of 17-OH progesterone beyond cut-off level (2 preterm, 1 full term) while 1 full term presented with genital ambiguity; one case of Klinefelter syndrome was given testosterone replacement. Ten patients underwent corrective surgery for urogenital anomalies. Repair of hypospadias was the most common procedure. Repairs of associated anomalies (neurologic, cardiac, gastrointestinal, genitourinary) were done in 6 patients. Conclusion Complete history, meticulous physical examination and comprehensive investigations are important for the confirmation of DSDs. Uniform classification, use of standardized terminology, and proper documentation of findings are crucial for the integrated and appropriate management of these patients.
Disorders of Sex Development