Abstract
NR5A1 gene mutation is one of the common cause of 46 XY dysplasia (46, XY disorder of sex development, 46, XY DSD), which is an autosomal dominant disease.It has wide phenotypes: 46, XY gonadal dysplasia is the most common one, site-specific mutations can lead to adrenal dysfunction and may affect the height.In recent years, more and more studies have shown that the mutation of NR5A1 gene can lead to 46, XX ovotesticular DSD and 46, XX testicular DSD.The disease is also characterized by hypergonadotropic hypogonadism, so LH and FSH are high, especially the FSH, leading to a decrease in LH/FSH.The treatment of NR5A1 gene mutation is mainly symptomatic.Gender identification needs to take many factors into consideration.Before puberty, children can use GnRHa to inhibit gonad development and avoid premature ovarian failure.In this review, recent progress of NR5A1 is summarized. Key words: NR5A1 mutant; Gonadoplasia; LH/FSH; Gonadal premature failure
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