Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.

ABSTRACT:

Objectives

The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers-Danlos syndrome (EDS). Since SCAH-X has been recently described, the number of publications available is limited. The objective of this study was to set up a molecular approach and a screening algorithm for detecting CAH-X chimeras, determine their frequency and distribution in the Spanish population, and assess their clinical pattern of occurrence in a group of patients.

Methods

A total of 186 patients were eligible for CAH-X molecular genetic testing. Testing included MLPA, heterodimer detect

SUBMITTER: Figueras LM 

PROVIDER: S-EPMC10701499 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature