An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family

• मुख्य लेखकों: Ahmad J. Alzahrani (लेखक), Azzam Ahmad (लेखक), Tariq Alhazmi (लेखक), Lujin Ahmad (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hindawi Limited, 2019-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

KISS1R (GPR54) mutations have been reported in several patients with congenital normosmic idiopathic hypogonadotropic hypogonadism (nIHH). We aim to describe in detail nIHH patients with KISS1R (GPR54) mutations belonging to one related extended family and to review the literature. A homozygous muta...