hypogonadotropic hypogonadism 1 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.

Signs and symptoms

• Micropenis
• Decreased circulating luteinizing hormone level
• Decreased circulating follicle stimulating hormone concentration
• Decreased serum testosterone concentration
• Hypogonadotropic hypogonadism
• Small scrotum
• Unilateral renal agenesis
• Ataxia
• Anosmia
• High palate

Also known as: dysplasia olfactogenitalis of de morsier