Adrenocorticotropic hormone deficiency

Adrenocorticotropic hormone deficiency
Adrenocorticotropic hormone deficiency
Other names	ACTH deficiency
	Autosomal recessive is the manner in which this condition is inherited
Specialty	Endocrinology

Adrenocorticotropic hormone 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[]

Symptoms include weakness, hypoglycemia, weight loss and decreased axillary and pubic hair. It can be either isolated or part of a generalised pituitary dysfunction. It can be life-threatening if not recognised.^{[citation needed]}

Diagnosis[]

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

Treatment[]

Treatment is with hydrocortisone supplementation.^{[citation needed]}

References[]

^ 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.
^ 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. S2CID 18054879.
^ 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. S2CID 27036419.

External links[]

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[pmid17718852-1] 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.

[pmid11290323-2] 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. S2CID 18054879.

[pmid15711914-3] 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. S2CID 27036419.

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