Short stature due to genetic defects affecting growth hormone activity

Article Abstract:

Short stature due to a genetic defect of the pituitary growth hormone may be rare. Four types of growth hormone deficiency have been identified. An absent growth hormone is termed type IA, and low levels of growth hormone secretion is type IB. Genetic defects block the action of growth hormone after its release, preventing proper growth. Children with the following characteristics should be examined with respect to defective growth hormone genes: small size at birth, obesity, sparse hair, hypoglycemia, marked growth retardation, small face, a small penis, and a high voice. Short, obese parents with small hands and feet, a history of delayed puberty, and signs of early aging could also indicate an inherited genetic defect. Prenatal ultrasound may fail to identify growth hormone deficiency.

Editorial, Diagnosis, Physiological aspects, Somatotropin releasing hormone, Somatotropin-releasing hormone

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Brief report: short stature caused by a mutant growth hormone

Article Abstract:

Genetically abnormal growth hormone may be responsible for extremely short stature. Researchers found a mutation in the growth hormone gene of a small boy. At just under 5 years old, the boy had the bone age of a two-year-old and measured 81.7 cm, a height much below the average. Bioactivity of the boy's growth hormone was lower than normal, compared to his sisters and parents. Insensitivity to growth hormone was ruled out after a good response and a better growth rate following intensive treatment with growth hormones. The defective growth hormone failed to stimulate tyrosine phosphorylation and inhibited wild-type growth hormone activity despite a high concentration of the latter. The father of the boy had the same genetic abnormality but a height close to normal.

Health aspects, Measurement, Somatotropin, Mutation (Biology), Mutation

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Idiopathic short stature

Article Abstract:

A clinical evaluation of a child with short stature was carried out to rule out systemic disease and genetic conditions associated with short stature. The boy in the case study has delayed bone age, most likely has familial short stature in conjunction with constitutional delay of growth and development, and so hormone therapy was ruled out and was asked to consult some experienced pediatric endocrinologists.

Disease/Disorder overview

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