Congenital adrenal hyperplasia at the Lagos University Teaching Hospital: A 10-year review

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. More than 90% of CAH are caused by 21-hydroxylase deficiency (21HD), found in 1:10,000 to 1:15,000 live births. Early diagnosis of CAH is important because newborn babies with salt-losing forms of CAH die within days or weeks if not treated. In a resource-constrained setting, lack of awareness, poor health facilities, inadequate laboratory support, and expensive and erratic availability of drugs make most children with CAH vulnerable. Objectives: To describe characteristics of the children with CAH attending the Pediatric Endocrinology Clinic of Lagos University Teaching Hospital over a 10 years period. Subjects and Methods: Case records of patients with CAH attending the clinic from February 2005 to January 2015 were reviewed and data extracted from them for further statistical analysis using Microsoft Excel 2010. Results: Twenty eight patients (14 males and 14 females) were seen constituting 34% of the patients with ambiguous genitalia. The median (range) age of the patients was 7 (0.33- 21) years, and the median (range) age at presentation was 3 (0.01-15) years. These include within the neonatal period (25.0%), before 1 year (17.9%), before 5 years (25.0%), and beyond 5 years (32.1%). Modes of presentation included ambiguous genitalia, precocious puberty, salt loss, and discovery on screening because of an affected sibling. Presumed enzyme deficiencies are 21 hydroxylase (78.5% of which 18.2% salt-losing), 11-beta-hydroxylase (14.3%), 17α-hydroxylase (3.6%), and P450 oxidoreductase (3.6%), respectively. Six patients (21.4%) had associated hypertension. Other comorbidities include Blount's disease and pelvi-ureteric junction obstruction. Three male patients were also managed for subsequent associated central precocious puberty. Two siblings were affected in 3 nonconsanguineous families. One patient had contracted HIV/Acquired Immune Deficiency Syndrome from blood transfusion after clitoridectomy. Challenges in management include unavailability and unaffordability of investigations and drugs for treatment. Conclusions: CAH is an important cause of ambiguous genitalia and precocious puberty. Careful examination of the newborn genitalia is important, and a high index of suspicion maintained for salt-losing forms. Increased awareness should be created nationwide for prompt diagnosis and referral when applicable. Treatment is life-long and expensive.