Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

Arslan Ateş, Esra; Eltan, Mehmet; Sahin, BAHADIR; Gurpinar Tosun, Busra; Seven Menevse, Tuba; Geckinli, BİLGEN; Greenfield, Andy; Turan, SERAP; Bereket, ABDULLAH; Güran, TÜLAY

doi:10.1530/eje-21-1230

Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

Arslan Ateş E., Eltan M., Sahin B., Gurpinar Tosun B., Seven Menevse T., Geckinli B. B., ...More

European journal of endocrinology, vol.186, no.5, 2022 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 186 Issue: 5
Publication Date: 2022
Doi Number: 10.1530/eje-21-1230
Journal Name: European journal of endocrinology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Open Archive Collection: AVESIS Open Access Collection
Marmara University Affiliated: Yes

Abstract

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.