hypogonadotropic hypogonadism 12 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.

Signs and symptoms

• Anosmia
• Hypogonadotropic hypogonadism
• Micropenis
• Hypoplasia of the uterus
• Decreased serum testosterone concentration
• Decreased circulating gonadotropin concentration
• Delayed puberty
• Decreased serum estradiol
• Decreased testicular size
• Absent pubic hair

Also known as: familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency