Congenital Adrenal Hyperplasia: The Challenges of Management in a Developing Country

Abstract

Objective: The management of congenital adrenal hyperplasia (CAH) is challenging, particularly in developing countries. The objective of this study is to report the challenges and outcome of management of this pathology at an institution in Nigeria.
Patients and Methods: All the children that were diagnosed with CAH at the University of Benin Teaching Hospital, Benin City, Nigeria, between January 2002 and December 2007 were included in this retrospective study. The parameters studied were: age, sex, mode of presentation, family history of similar lesions, fi ndings on examinations and investigations, treatment given, challenges and outcome. The available parents/caregivers were interviewed in order to document their socioeconomic status, place of residence, level of education and level of awareness about CAH. The data obtained were analyzed using SPSS and presented as count, frequency and percentage, while continuous data were expressed as mean ± standard deviation.
Results: In total, 27 children aged between 2 and 15 (mean 8 ± 2.4) years were treated. Twentyfour of them were females and 3 males with a male-to-female ratio of 1:8. Delayed presentation, which was infl uenced by cultural beliefs and lack of awareness, was very common and none of the cases was diagnosed under 2 years of age. Genital manifestation was the reason for seeking medical consultation in 23 (85%) patients, while the 3 males (11%) and one female (4%) presented due to precocious puberty. All the females were mistakenly raised as males despite obvious deformity of the phallus. Establishing an accurate diagnosis was a major challenge due to the lack of facilities and manpower required, and a combination of clinical, radiological and biochemical laboratory investigations plus/minus mini-laparotomy was used. Although surgical and steroid replacement therapy was satisfactory, gender re-assignment was very challenging and required a multidisciplinary approach, counseling and relocation of the affected families.
Conclusion: Management was diffi cult mainly due to late presentation, and there is an obvious need for a public information campaign in our country in order to increase the awareness of CAH in order to avoid wrong gender assignment in neonates.


Keywords: Congenital adrenal hyperplasia, management, gender

African Journal Of Urology Vol.14 (3) 2007: pp. 138-142