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Molecular diagnosis of disturbances of sexual differentiation

Abstract

We are presenting in this project 6 studies which involve aspects of gonadal differentiation: analysis of the androgenic gene receptor in patients carrying masculine pseudo-hermaphroditism by insensitivity to androgens; research of mutations in the gene type II of 3-Beta-hydroxysteroid dehydrogenase (3B HSD) in hirsute or masculinized women; cytogenetic and molecular study of the Y chromosome in Turner syndrome; laboratorial, radiological and molecular diagnosis of the isolated deficiency of gonadotrofins; research into activating mutations in the receptor gene of the follicle stimulant hormone (FSH) in girls with isosexual precocious pseudo-puberty; research into mutations in exon 11 of the receptor gene of LH in infertile women. (AU)

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