GHpuutoksen

GHpuutoksen, literally “growth‑hormone deficiency” in Finnish, is a medical condition characterized by insufficient secretion of growth hormone (GH) from the anterior pituitary gland. The deficiency can be congenital, resulting from genetic mutations affecting pituitary development, or acquired later in life due to tumors, head trauma, radiation therapy, or infiltrative diseases.

Clinically, children with GHpuutoksen exhibit growth retardation, short stature, delayed bone maturation, and may have increased adiposity. In adults, the condition can lead to decreased muscle mass, reduced bone density, impaired quality of life, increased cardiovascular risk, and dyslipidaemia. Diagnosis relies on auxological assessment in children, measurement of serum IGF‑1 levels, and provocative GH stimulation tests to confirm inadequate GH response. Magnetic resonance imaging of the sellar region is used to identify structural abnormalities.

Management typically involves recombinant human growth‑hormone (rhGH) therapy, administered via daily subcutaneous injections. In pediatric patients, treatment aims to normalize growth velocity and achieve near‑adult height comparable to genetic potential. Adult patients may receive rhGH to improve body composition, exercise capacity, and metabolic parameters. Treatment duration is individualized, and regular monitoring of IGF‑1, glucose metabolism, and bone health is recommended.

Epidemiologically, isolated GH deficiency is relatively rare, occurring in approximately 1–2 per 10,000 children, with a higher prevalence in those with additional pituitary hormone deficits. Ongoing research explores long‑acting GH analogues, gene‑therapy approaches, and the impact of early diagnosis on final adult height and metabolic outcomes.