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

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.

A cross sectional study of growth of children with sickle cell disease, aged 2 to 5 years in Yaoundé, Cameroon.

INTRODUCTION: Growth of children affected by Sickle Cell Disease (SCD) is not well described in sub-Saharan Africa despite the high prevalence of the disease. Few data are available in this context and on the issue using the World Health Organization growth norms. We therefore conduct the present study with the aim of describing the growth of affected children aged less than 5 years. We also assessed correlation of anthropometric parameters with disease severity criteria. METHODS: A cross-sectional study was conducted during a period of 8 months, at the Mother and Child Center of Yaoundé. The sample included 77 children with SCD aged 2 to 5 years old in steady state. Anthropometric measurements and socio-demographic data were collected and analyzed. All statistical tests were two-tailed with p<0.05 considered significant. RESULTS: Median age of study population was 3.67 years. Low weight, height and weight for height Z-scores (<-2SD) were observed in 4%, 4%, and 5% of children, respectively. Projection of these parameters were stackable on WHO curves. Regression analysis indicated an association of low height-for-age and of low Body Mass Index (BMI)-for-age with age. CONCLUSION: This study demonstrates unexpectedly lower mean Z-score for weight, height and weight for height than reported while using WHO norms.