Endocrinology, Diabetes, and Metabolism· Topic 4.8 Hypothalamic-pituitary axis and water homeostasis· 4.8.13

Growth hormone deficiency

Growth hormone (GH) deficiency causes short stature in children and a nonspecific syndrome of fatigue, reduced muscle mass, and adverse body composition in adults, usually from hypothalamic-pituitary disease, surgery, irradiation, or head trauma. Diagnosis relies on a low age-adjusted IGF-1 with confirmatory provocative testing when needed, and treatment is daily subcutaneous somatropin titrated to a normal IGF-1, avoided in active malignancy or an untreated pituitary tumor.

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What this article covers

  • Overview

    Growth hormone (GH) deficiency is inadequate GH secretion from the anterior pituitary, producing short stature and growth failure in childhood and a nonspecific syndrome of fatigue, adverse body…

  • Epidemiology

    Adult-onset GH deficiency is uncommon in the absence of a recognized hypothalamic-pituitary disorder; idiopathic isolated adult GH deficiency is rare, which is why testing is reserved for patients…

  • Risk factors

    A history of hypothalamic or pituitary disease (tumor, infiltrative or inflammatory disease, or a structural lesion) is the leading risk factor for adult GH deficiency.

  • Pathophysiology

    GH is secreted by somatotroph cells of the anterior pituitary under stimulatory control by hypothalamic GH-releasing hormone (GHRH) and inhibitory control by somatostatin.

  • Clinical features

    In adults, the presentation is nonspecific and subtle: fatigue, reduced muscle mass and strength, and more fat relative to lean body mass, often with low bone density, adverse lipid profile, and impaired quality of life or mood.

  • Differential diagnosis

    Primary hypothyroidism: shares fatigue, weight gain, and reduced energy, but is distinguished by an elevated TSH with low free T4, rather than a low IGF-1 with an appropriate or low TSH.

  • Diagnosis

    The diagnosis rests on a low age- and sex-adjusted serum IGF-1 in a patient with a plausible cause, with provocative GH testing reserved for equivocal cases; a normal IGF-1 does not exclude the…

  • Management

    First, correct any coexisting ACTH deficiency with hydrocortisone 15-20 mg PO daily in two divided doses, lifelong, before starting other hormone replacement, because untreated secondary adrenal…

  • Complications

    Low bone mineral density and fracture risk from chronically low IGF-1 and its effects on bone turnover.

  • Prognosis

    GH replacement improves muscle strength, body composition, bone density, and quality of life in adults with confirmed deficiency, though long-term effect on cardiovascular outcomes and mortality is not established.

  • Prevention

    Assess pituitary function (including IGF-1, TSH, free T4, cortisol, and testosterone in men) at 3 to 6 months and then yearly for at least 3 years in patients with moderate to severe traumatic brain…

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