[46 XY. Isolated deficiency of antimulerian factor].
A medical history of a 14 years old patient with a female fenotype, external genitalia--Prader 3, absence of labia minora, vagina, clitoris, presence of a hypoplastic uterus, gonads--histologically diagnosed as testis. This is 46XY; Isolated deficiency of antimulerian factor (mulerinhibiting hormone), incorrectly had been diagnosed in the past as 46XY; Gonadal dysgnesis--incomplete form. This had determined choosing of a female sex for the child. It is discussed the significance of a correct diagnosis in similar cases for socializing of the individual.
D000293:Adolescent; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D006801:Humans