Article
A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.
Clinical endocrinology - 1 Jun 2013
Suwanai Ayuko S, Ishii Tomohiro, Haruna Hidenori, Yamataka Atsuyuki, Narumi Satoshi, Fukuzawa Ryuji, Ogata Tsutomu, Hasegawa Tomonobu
Abstract excerpt
OBJECTIVE: NR5A1 or steroidogenic factor 1 is a nuclear receptor that plays important roles in the hypothalamus-pituitary-steroidogenic axis. The clinical phenotype of most 46,XY mutation carriers includes disorders of sex development (DSD) without adrenal insufficiency, whereas 46,XX mutation carriers have phenotypes ranging from no symptoms to ovarian insufficiency. Although genetically engineered ventromedial...
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