Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

Rita Valsassina Filipa Briosa Joana Costa Soares Marta Amorim Catarina Limbert

Published in: Clinical case reports (2020)

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.

Keyphrases

early onset
replacement therapy
genome wide
intellectual disability
autism spectrum disorder