Growth hormone deficiency

Growth hormone deficiency
Other namesPituitary dwarfism
Growth hormone
SpecialtyEndocrinology
SymptomsShort height[1]
ComplicationsLow blood sugar, high cholesterol levels, poor bone density[1][2]
TypesCongenital, acquired[1]
CausesNot enough growth hormone[3]
Risk factorsGenetics, trauma, infections, tumors, radiation therapy[2]
Diagnostic methodBlood tests for growth hormone[2]
Differential diagnosisSmall for gestational age, Turner syndrome, Noonan syndrome, Prader-Willi syndrome[2]
TreatmentGrowth hormone replacement[1] growth hormone injections
FrequencyUnclear[2]

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]

  1. ^ a b c d e f g h i "Growth hormone deficiency". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2016. Retrieved 12 December 2017.
  2. ^ a b c d e f g h i j k l "Growth Hormone Deficiency". NORD (National Organization for Rare Disorders). 2016. Retrieved 12 December 2017.
  3. ^ a b c d "isolated growth hormone deficiency". Genetics Home Reference. February 2012. Retrieved 12 December 2017.
  4. ^ "Combined pituitary hormone deficiency". Genetics Home Reference. August 2010. Retrieved 13 December 2017.