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

Ates, ESRA; Eltan, Mehmet; ŞAHİN, BAHADIR; Tosun, Busra; Menevse, Tuba; GEÇKİNLİ, BİLGEN; Greenfield, Andy; DEMİRCİOĞLU, 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

Ates E., Eltan M., ŞAHİN B., Tosun B. G., Menevse T. S., GEÇKİNLİ B. B., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.186, sa.5, 2022 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 186 Sayı: 5
Basım Tarihi: 2022
Doi Numarası: 10.1530/eje-21-1230
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: 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
İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır

Özet

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.