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Article

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.

The Pan African medical journal - 1 Jan 2020

Elfekih Hamza, Abdelkrim Asma Ben, Marzouk Hajer, Saad Ghada, Gribaa Moez, Hasni Yosra, Maaroufi Amel

Abstract excerpt

Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with...

Topics

Adrenal Hyperplasia, Congenital
Adult
Child
Female
Follow-Up Studies
Humans
Hydrocortisone
Male
Mineralocorticoid Receptor Antagonists
Mutation
Puberty, Precocious

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroid 11-beta-Hydroxylase

Tunisia

Source

Open in PubMed Open full text

Identifiers

PMID: 33708317
DOI: 10.11604/pamj.2020.36.226.24270
PMCID: PMC7908330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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