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

Clinical Case Reports (Dec 2020)

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

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

Affiliations

Rita Valsassina: Department of Pediatrics Hospital Beatriz Ângelo Loures Portugal
Filipa Briosa: Department of Pediatrics Hospital Beatriz Ângelo Loures Portugal
Joana Soares: Department of Pediatrics Hospital de Santo André Leiria Portugal
Marta Amorim: Department of Genetics Hospital Dona Estefânia Lisboa Portugal
Catarina Limbert: Department of Pediatric Endocrinology Hospital Dona Estefânia Lisboa Portugal

DOI: https://doi.org/10.1002/ccr3.3370
Journal volume & issue: Vol. 8, no. 12
pp. 3125 – 3128

Abstract

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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.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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