ECE2022 Eposter Presentations Adrenal and Cardiovascular Endocrinology (131 abstracts)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and hypertension: a case report
Chayma Besrour , Rojbi Imen , Mekni Sabrine , Majdoub Marwa , Lakhoua Youssef , Ben Nacef Ibtissem & Khiari Karima
Hospital Charles Nicolle, Endocrinology, Tunis, Tunisia.
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common of the CAH, it is also the most common of the autosomal recessive diseases. Hypertension is generally absent, and its presence should lead to an investigation of another cause.
Observation: We report the case of a 26-year-old young man, descendant from a second-degree consanguineous marriage with a family history of the death of a brother at the age of 25 days of severe dehydration, who is followed in our department for HCS with HTA. The diagnosis of CAH was suspected at the age of 9 days due to dehydration with electrolyte disorders. Hormonal assays confirmed the diagnosis in front of a high level of 17-OH progesterone. At the age of 3 years old, he was operated for right testicular ectopia and at the age of 8 years old, we discovered a hypertension. The etiological assessment concluded to a secondary hyperaldosteronism.
Discussion: The 21-hydroxylase deficiency is generally not associated with hypertension, taking into consideration the hypocortisolism and the aldosterone deficiency depending on the level of the block. Hyperaldosteronism associated with 21hydroxylase deficiency constitutes a new entity recently reported by a few studies, but its pathophysiological mechanism remains unclear.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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