Developmental and genetic diseases

Anorchia, familial

TRS

Testicular regression, embryonic

Vanishing testis syndrome

XY gonadal dysgenesis syndrome

[Clinical features: 46, XY individuals; if fetal testicular regression occurs between 8-10 weeks of gestation, patients may have female external genitalia with or without ambiguity, associated with lack of gonads, hypoplastic uterus and rudimentary genital ducts; regression of the testes after 12-14 weeks results in phenotypic males with anorchia or streak gonads]

[Inheritance: autosomal recessive with sex limitation]