Adrenocorticotropic hormone deficiency

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Adrenocorticotropic hormone deficiency
Classification and external resources
ICD-10 E23.0
ICD-9 253.2
OMIM 201400
DiseasesDB 33423

Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland.[1]

It can be associated with TBX19.[2]

Presentation[edit]

Symptoms include weakness, hypoglycemia, weight loss and decreased axillary and pubic hair. It can be either isolated or part of a generalised pituary dysfunction. It can be life-threatening if not recognised.

Diagnosis[edit]

It is usually diagnosed on basis of an ACTH or insulin tolerance test in combination with the clinical symptoms.[3]

Treatment[edit]

Treatment is with hydrocortisone supplementation.

See also[edit]

References[edit]

  1. ^ Drouin J, Bilodeau S, Vallette S (September 2007). "Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency". Clin. Genet. 72 (3): 175–82. doi:10.1111/j.1399-0004.2007.00877.x. PMID 17718852. 
  2. ^ Lamolet B, Pulichino AM, Lamonerie T et al. (March 2001). "A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins". Cell 104 (6): 849–59. doi:10.1016/S0092-8674(01)00282-3. PMID 11290323. 
  3. ^ Cooper MS, Stewart PM (January 2005). "Diagnosis and treatment of ACTH deficiency". Rev Endocr Metab Disord 6 (1): 47–54. doi:10.1007/s11154-005-5224-0. PMID 15711914.