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Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

J Endocr Soc. 2020-11; 
Yutaka Hasegawa, Yoshihiko Takahashi, Yuichiro Kezuka, Wataru Obara, Yoichiro Kato, Shukuko Tamura, Ken Onodera, Toshie Segawa, Tomoyasu Oda, Marino Sato, Koji Nata, Takamasa Nonaka, Yasushi Ishigaki
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Mammalian Expression Human full-length NR0B1/DAX1 (Origene), NR5A1/SF1 (GenScript) Get A Quote

摘要

unassigned: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the gene. We aimed to search for the presence of any gene mutations in a referred patient and to further characterize the phenotypes of the identified mutation. unassigned: Herein, we report a Japanese patient with a novel missense mutation of the gene resulting in adult-onset AHC and HHG. The patient was referred with diffuse skin pigmentation at 28 years of age, presented partial adrenal insufficiency and had undiagnosed incomplete HHG. Urological examination revealed severe oligospermia and testicular microlithiasis. unassi... More

关键词

NR0B1, adrenal hypoplasia congenita, cortisol, hypogonadotropic hypogonadism, steroidogenic acute regulatory protein (STAR), testicular microlithiasis