Combined Pituitary Hormone Deficiency

A hereditary autosomal recessive form of hypopituitarism that is characterized by growth retardation, HYPOTHYROIDISM, reduced levels of CORTISOL, and absent or DELAYED PUBERTY due to low levels of LUTEINIZING HORMONE or FOLLICLE-STIMULATING HORMONE . Rarely, INTELLECTUAL DISABILITY, neck abnormalities, and OPTIC NERVE defects may also occur. Mutations in the PROP1 gene have been identified in some cases. OMIM: 262600

Source last updated 2026-05-24T15:29:02.402Z