Article
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.
European journal of endocrinology - 23 Mar 2022
Arslan Ates Esra, Eltan Mehmet, Sahin Bahadir, Gurpinar Tosun Busra, Seven Menevse Tuba, Geckinli Bilgen Bilge, Greenfield Andy, Turan Serap, Bereket Abdullah, Guran Tulay
Abstract excerpt
Background: The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown. Objective: We report for the first time two male siblings with homozygous INHAmutations. Methods: The medical files were examined for clinical, biochemical, and imaging data....
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