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GENATLAS PHENOTYPE
last update : 19-10-2011
Symbol XXGD
Location 17q21.31
Name XX gonadal dysgenesis
Corresponding gene PSMC3IP
Main clinical features lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads PMID: 21963259
Genetic determination autosomal recessive
Function/system disorder sex-genitalia
Type other
Gene product
Name coactivator of Estrogen-Driven Transcription
Remark(s) by analogy to other XX-GD genes (FSH receptors, BMP15,...), PSMC3IP is also a candidate gene for premature ovarian failure