pituitary hormone deficiency—combined—2
Definition A form (OMIM:262600) of combined pituitary hormone deficiency* characterised by multiple hormone defects (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinising hormone, prolactin and adrenocorticotropic hormone).
*Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other 5 anterior pituitary hormones.
Molecular pathology Defects of PROP1, which encodes a homeodomain transcription factor involved in the developing pituitary, cause pituitary hormone deficiency—combined—2.
Synonyms Ateliotic dwarfism with hypogonadism, Hanhart dwarfism, panhypopituitarism, pituitary dwarfism III