Identifying the First Val281L Mutation Causing Nonclassic Congenital Adrenal Hyperplasia in the Central-East Region of Tunisia.

Nonclassic congenital adrenal hyperplasia (NCAH) is a genetic disorder characterized by mutations in the genes encoding enzymes involved in cortisol production, most commonly the 21-hydroxylase enzyme. Unlike classic congenital adrenal hyperplasia (CAH), NCAH typically presents later in life with milder symptoms. The diagnosis of NCAH can be challenging due to its nonspecific symptoms and variable presentation.

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Objective: To determine the incidence and risk factors of adverse events (AE) in a Tunisian university hospital.

Method: We carried out a longitudinal observational study in 2016 over a period of 3 months in the Sahloul university hospital of Sousse, Tunisia. Data were collected using a pretested form filled by doctors previously trained in the collection methodology, upon each visit to all hospitalized patients.