Open AccessHypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
Author(s) -
Valsassina Rita,
Briosa Filipa,
Soares Joana,
Amorim Marta,
Limbert Catarina
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3370
Subject(s) - hypogonadotropic hypogonadism , compound heterozygosity , medicine , heterozygote advantage , mutation , trait , genetics , pediatrics , genotype , gene , hormone , biology , computer science , programming language
Abstract The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.