hypogonadotropic hypogonadism 4 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.

Signs and symptoms

• Aplasia of the olfactory bulb
• Absence of pubertal development
• Hypogonadotropic hypogonadism
• Micropenis
• Hyposmia
• Decreased testicular size
• Primary amenorrhea
• Cryptorchidism
• Seizure
• Diabetes mellitus