Growth hormone deficiency (GHD), or human growth hormone deficiency, is a medical condition resulting from not enough growth hormone (GH).[3] Generally the most noticeable symptom is that an individual attains a short height.[1] Newborns may also present low blood sugar or a small penis size.[2] In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density.[1]
GHD can be present at birth or develop later in life.[1] Causes may include genetics, trauma, infections, tumors, or radiation therapy.[2] Genes that may be involved include GH1, GHRHR, or BTK.[3] In a third of cases no cause is apparent.[2] The underlying mechanism generally involves problems with the pituitary gland.[2] Some cases are associated with a lack of other pituitary hormones, in which case it is known as combined pituitary hormone deficiency.[4] Diagnosis involves blood tests to measure growth hormone levels.[2]
Treatment is by growth hormone replacement using synthetic human growth hormone.[1] The frequency of the condition is unclear.[2] Most cases are initially noticed in children.[1] The genetic forms of this disease are estimated to affect about 1 in 7,000 people.[3] Most types occur equally in males and females though males are more often diagnosed.[2]
^ abcdefghi"Growth hormone deficiency". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2016. Retrieved 12 December 2017.
^ abcdefghijkl"Growth Hormone Deficiency". NORD (National Organization for Rare Disorders). 2016. Retrieved 12 December 2017.
^ abcd"isolated growth hormone deficiency". Genetics Home Reference. February 2012. Retrieved 12 December 2017.
^"Combined pituitary hormone deficiency". Genetics Home Reference. August 2010. Retrieved 13 December 2017.
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