Clinical, biochemical, and biomolecular aspects ofcongenital adrenal hyperplasia in a group ofCameroonian children and adolescents.

Abstract

Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders todiagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients. We did an observational retrospective study atthe pediatric endocrinology unit of the Mother and ChildCentre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH. We consecutively included 31 patients aged lessthan 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08-2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) wason CYP11, found in 16 patients (66.6%) followed byCYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11hydroxylase deficiency. This mutation was mostly foundin people from semi-Bantu tribes, declared non consanguineous. 11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.