hypogonadotropic hypogonadism 18 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.

Signs and symptoms

• Anosmia
• Absence of pubertal development
• Hearing impairment
• Hypogonadism
• Abnormality of the dentition
• Osteoporosis
• Osteopenia