Disorders of Sexual Differentiation as seen at Kenyatta National Hospital

ABSTRACT

Background: Disorders of sexual differentiation (DSD) are a group of congenital anomalies characterised by discordance between genetic; gonadal and phenotypic sex. There has been remarkable evolution in management over the last decade; including nomenclature; diagnosis and management. There has also been increased awareness and interest from patients and the public; including legal opinion. There has however been no local study to document and evaluate management in Kenya.Objective: To describe management of patients presenting with DSD at Kenyatta National Hospital (KNH) over a 10 year period. Design: Retrospective descriptive study.Setting: Kenyatta National Hospital.Subjects: Patients diagnosed with DSD.Results: A total of 30 patients whose charts were available were reviewed. Age ranged from birth to 19 years (median 5 months) at diagnosis. Presumed gender was assigned at birth in 28 patients. Karyotyping was available in 23(76%) patients. Other common tests included blood tests (23; 76%); ultrasound scan (14; 47%); contrast studies (3; 10%) and exploratory laparoscopy or laparotomy. 46XX and 46XY DSD were the most common conditions encountered (13; 43% and 7; 23% respectively). The commonest operations were correction of hypospadias and orchidopexy (55%); followed by feminising genitoplasty (16%). Only two patients had gender reassignment. Fifteen patients were asked how they feel about their current gender; and 11 expressed satisfaction. Conclusion: DSD is a relatively rare condition. There are also no strict protocols being followed. Management at KNH is acceptable although there is a lack of facilities to carry out many requisite investigations