46,XY disorders of sex development (DSD).
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.
Mendonca
Berenice Bilharinho
BB
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, LIM 42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil. beremen@usp.br
Domenice
Sorahia
S
Arnhold
Ivo J P
IJ
Costa
Elaine M F
EM
D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D013737:Testis / Q000002:abnormalities; D013739:Testosterone / Q000378:metabolism
D013739:Testosterone