46,XY complete gonadal dysgenesis. Patients have an XY chromosomal karyotype but are phenotypically female. Characterized by streak gonads, normal mullerian structures, and normal female external genitalia. Diagnosis typically occurs in adolescence due to absence of primary amenorrhea, at which point patients usually begin hormone replacement therapy to induce menstruation and the development of secondary sex characteristics.
ICD10CM: Q99.1 – 46, XX true hermaphrodite
SNOMEDCT: 95218005 – Pure gonadal dysgenesis 46,XY
Differential Diagnosis & Pitfalls
Other conditions which may present with primary amenorrhea in a 46,XY patient: