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.