Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Rita Valsassina; Filipa Briosa; Joana Soares; Marta Amorim; Catarina Limbert

doi:10.1002/ccr3.3370

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Clin Case Rep. 2020 Sep 22;8(12):3126-3129. doi: 10.1002/ccr3.3370. eCollection 2020 Dec.

Authors

Rita Valsassina¹, Filipa Briosa¹, Joana Soares², Marta Amorim³, Catarina Limbert⁴

Affiliations

¹ Department of Pediatrics Hospital Beatriz Ângelo Loures Portugal.
² Department of Pediatrics Hospital de Santo André Leiria Portugal.
³ Department of Genetics Hospital Dona Estefânia Lisboa Portugal.
⁴ Department of Pediatric Endocrinology Hospital Dona Estefânia Lisboa Portugal.

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.

Keywords: endocrinology and metabolic disorders; genetics; pediatrics and adolescent medicine.

Publication types

Case Reports