pituitary hormone deficiency—combined—2

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pituitary hormone deficiency—combined—22016-11-27T16:45:02+00:00

pituitary hormone deficiency—combined—2

ENDOCRINOLOGY

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 

Reference http://www.uniprot.org/uniprot/O75360

http://www.omim.org/entry/262600

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