Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Abstract

Ambiguous external genitalia are a major cause of parental anxiety and a challenge to paediatricians in developing countries. Aims and objectives: This study aims to highlight the pattern of presentation and challenges in the management of ambiguous external genitalia in a developing country. Patients and methods: A prospective study of all patients with ambiguous external genitalia managed in the paediatric endocrine unit of the University of Port Harcourt Teaching Hospital between January 2008 and Dec 2010 was done. Biodata, clinical presentation, management and outcome were documented. Results: Six patients were seen with ambiguous external genitalia during the study period. Age ranged from birth to 16 years at presentation. The commonest presentation was clitoral hypertrophy in all patients. The commonest initial diagnosis was CAH. Definitive confirmation of cause of ambiguous external genitalia with a reconstructive surgery was done in only one patient due to non-availability and high cost of investigation. Three (50%) patients were lost to follow up of which 2(66.7%) have resorted to spiritual treatment. One patient who presented at 16 years of age died from an associated obstructive uropathy with chronic renal failure. Conclusion: The challenges in managing children with ambiguous external genitalia in developing countries include late presentation, high cost andnon-availability of investigations for making definitive diagnosis.