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Article

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2023

Ivo Catarina Rodrigues, Fitas Ana Laura, Madureira Inês, Diamantino Catarina, Gomes Susana, Gonçalves João, Lopes Lurdes

Abstract excerpt

OBJECTIVES: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 was...

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Identifiers

PMID: 36259452
DOI: 10.1515/jpem-2022-0396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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