primary ovarian insufficiency 18

info · Genetic

A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.

Signs and symptoms

Premature ovarian insufficiency
Hypoplasia of the uterus
Irregular menstruation
Secondary amenorrhea
Elevated circulating luteinizing hormone level
Elevated circulating follicle stimulating hormone level
Decreased circulating antimullerian hormone circulation
Hypoplasia of the ovary

Also known as: POF18; premature ovarian failure 18