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

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 recently described, resulting from a CYP21A2 complete deletion that extends into the TNXB. This haploinsufficiency of TNX may be associated with a mild hypermobility form of EDS, as well as other connective tissue comorbidities such as hernia, cardiac defects and chronic arthralgia. We report four patients heterozygous for a CAH-X CH-1 allele that do not present clinical manifestations of the EDS. All CAH patients, carriers of these TNXA/TNXB chimeras, should be evaluated for clinical manifestations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better clinical surveillance management. © 2022 Walter de Gruyter GmbH, Berlin/Boston.

Citation

Catarina Rodrigues Ivo, Ana Laura Fitas, Inês Madureira, Catarina Diamantino, Susana Gomes, João Gonçalves, Lurdes Lopes. Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. Journal of pediatric endocrinology & metabolism : JPEM. 2023 Jan 27;36(1):81-85

Mesh Tags

Substances

PMID: 36259452

search → result