Browsing by Author "Diamantino, Catarina"
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- Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentationPublication . Ivo, Catarina Rodrigues; Fitas, Ana Laura; Madureira, Inês; Diamantino, Catarina; Gomes, Susana; Gonçalves, João; Lopes, LurdesObjectives: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin defi ciency 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. Case presentation: We report four patients heterozygous for a CAH-X CH-1 allele that do not present clinical mani festations of the EDS. Conclusions: All CAH patients, carriers of these TNXA/ TNXB chimeras, should be evaluated for clinical manifes tations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better clinical surveillance management