Article
Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2022
Ngo Um Suzanne Sap, Betoko Ritha Mbono, Mekone Isabelle, Chetcha Adèle Bodieu, Tardy Veronique, Dahoun Sophie, Mure Pierre Yves, Plotton Ingrid, Morel Yves, Etoga Martine Etoa, Nengom Jocelyn Tony, Moifo Boniface, Tambo Faustin Mouafo, Sobngwi Eugène, Ndombo Paul Koki
Abstract excerpt
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...
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