hypogonadotropic hypogonadism 8 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.

Signs and symptoms

• Hypogonadotropic hypogonadism
• Decreased circulating luteinizing hormone level
• Decreased circulating follicle stimulating hormone concentration
• Absence of pubertal development
• Micropenis
• Hypoplasia of the uterus
• Delayed skeletal maturation
• Gynecomastia
• Osteopenia
• Decreased testicular size