46,XX sex reversal 2

info · Genetic

A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.

Signs and symptoms

Elevated circulating luteinizing hormone level
Decreased serum testosterone concentration
Non-obstructive azoospermia
Sex reversal
Elevated circulating follicle stimulating hormone level
Infertility
Azoospermia
Micropenis
Hypoplasia of the vagina
Small scrotum

Also known as: SRXX2; chromosome 17q24 duplication syndrome