Article
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family .
Hormone research in paediatrics - 1 Jan 2017
Improda Nicola, Ponmani Caroline, Schoenmakers Nadia, Senniappan Senthil, Atterbury Abigail, Barnicoat Angela, Chatterjee Krishna, Dattani Mehul T
Abstract excerpt
BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and...
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