Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
Philibert
Pascal
P
Service d'Hormonologie, Hôpital Lapeyronie, CHU Montpellier, and Université Montpellier 1, France.
Leprieur
Elodie
E
Zenaty
Delphine
D
Thibaud
Elisabeth
E
Polak
Michel
M
Frances
Anne-Marie
AM
Lespinasse
James
J
Raingeard
Isabelle
I
Servant
Nadège
N
Audran
Françoise
F
Paris
Françoise
F
Sultan
Charles
C
D000293:Adolescent; D000568:Amenorrhea / Q000097:blood / Q000150:complications / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000150:complications / Q000235:genetics*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008954:Models, Biological; D020125:Mutation, Missense / Q000502:physiology; D009994:Osmolar Concentration; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D054339:Steroidogenic Factor 1 / Q000235:genetics*; D013739:Testosterone / Q000097:blood*
C515057:NR5A1 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D054339:Steroidogenic Factor 1; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone