Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents

Abstract

Objectives Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, 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. Methods We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH. Results We consecutively included 31 patients aged less than 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) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous. Conclusions 11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.

Diagnosis of CAH in a Sub Saharan Country: Visible Part of Iceberg

“…Despite that consanguinity was not declared, patients were from the same close tribal environment in 74.3% of cases. This specificity of close ethnic origin is already described [5].…”

“…The present analysis of past history of patients with CAH in our context was motivated by an interesting discussion with a reviewer on a previous study on CAH in Cameroonian setting, asking for a more complete description of patients in a context of low access to care [5]. The limit of this paper is the few number of cases.…”

“…We consecutively included all patients aged less than 21 years with diagnosis of CAH based on clinical (abniormal genitalia, premature pubarche) and hormonal basis (elevated 17 OH progesterone), from May 2013 to December 2022. The complete diagnosis process of our patients is described elsewhere [5].…”

“…The most common genetic lesion is on CYP21A2 gene mutation and CYP11B1 gene mutation [1]. The latter seems to be more frequent in some African setting in absence of studies on incidence [5]. In absence of neonatal screening, diagnosis is still late in this context [4] [5].…”

“…The latter seems to be more frequent in some African setting in absence of studies on incidence [5]. In absence of neonatal screening, diagnosis is still late in this context [4] [5]. Therefore, each patient diagnosed, revealed a history of long course of care and misdiagnosis for both the patient and family.…”