Клінічна презентація 46,ХY-порушення розвитку статі: дизгенезія гонад
Year: 2017
Type: article
Abstract: 46,XY-disorders of sex development are the result of microstructural rearrangement of Y chromosome (including mutations in SRY gene), as well as result of mutations, deletions, duplications in X-linked and autosomal genes — NR0B1 (DAX-1), NR5A1 (SF1), DHH and others. 46,XY-gonadal dysgenesis may be syndromic or nonsyndromic and have complete or incomplete forms. Depending on the molecular defect it has been allocated 9 types of 46,XY-sex inversion. Nonsyndromic forms of 46, XY-gonadal dysgenesis can be inherited differently: by X- or Y-coupling, autosomal dominantly or autosomal recessively. Patients with 46,XY-gonadal dysgenesis need a supervision of a multidisciplinary team. Clinical case of 3rd type of 46,XY-gonadal dysgenesis has been described (mutation in NR5A1 gene).
Author: Щербак, Ю. О.
Language: Ukrainian
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2979429118