Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

• Author(s): Valsassina, R ; Briosa, F ; Soares, J ; Amorim, M ; Limbert, C
• Date: 2020
• Persistent ID: http://hdl.handle.net/10400.17/3543
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): Hypogonadotropic; Hypogonadism; Heterozygous mutations TACR3; Siblings; HDE END PED; HDE GEN
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

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.