Molecular diagnosis of disturbances of sexual differentiation

• Grant number: 97/01196-1
• Support Opportunities: Research Projects - Thematic Grants
• Start date: October 01, 1997
• End date: September 30, 2001
• Field of knowledge: Biological Sciences - Biochemistry - Molecular Biology
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Berenice Bilharinho de Mendonça
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
• Associated research grant(s): 99/02169-3 - Screening for mutations in the 3b-hydroxysteroid dehydrogenase (hsd3b2) in hirsute women., AR.EXT

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)