Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ Characterized by decreased growth velocity and delayed skeletal maturation in the absence of other explanations May be isolated or coexist with other pituitary hormone deficiencies May be congenital (septo-optic dysplasia or ectopic posterior pituitary), genetic (GH or GHRH gene mutation), or acquired (craniopharyngioma, germinoma, histiocytosis, or cranial irradiation) Idiopathic GH deficiency is the most common deficiency state with an incidence of about 1:4000 children +++ Clinical Findings ++ Features of infantile GHD include Normal birth weight and slightly reduced length Hypoglycemia (if accompanied by adrenal insufficiency) Micropenis (if accompanied by gonadotropin deficiency) Conjugated hyperbilirubinemia (if other pituitary hormone deficiencies present) Growth retardation in isolated GH deficiency and hypopituitarism may not present until late in infancy or childhood Excess truncal adiposity seen in many patients because GH promotes lipolysis +++ Diagnosis ++ Laboratory tests to assess GH status may be difficult to interpret because there is significant overlap in GH secretion between normal and GH-deficient children GH secretion is pulsatile, so random samples for measurement of serum GH are of no value in the diagnosis of GH deficiency Serum concentrations of IGF-1 give reasonable estimations of GH secretion and action in the adequately nourished child and are often used as a first step in the evaluation for GH deficiency IGF-binding protein 3 (IGFBP-3) is a much less sensitive marker of GH deficiency, but may be useful in the underweight child or in children younger than 4 years, since it is less affected by age or nutritional status All patients diagnosed with GHD should have an MRI of the hypothalamus and pituitary gland. +++ Treatment ++ Indications for GH therapy GH deficiency Gowth restriction associated with chronic kidney failure Turner, Prader-Willi, and Noonan syndromes Children born small for gestational age (SGA) who do not demonstrate catch-up growth by age 4 SHOX gene mutations GH therapy has also been approved for children with idiopathic short stature whose current height is more than 2.25 standard deviations below the normal range for age With GH treatment, final height may be 5–7 cm taller in this population Recommended treatment schedule is subcutaneous recombinant GH given subcutaneously 7 days per week with total weekly dose of 0.15–0.3 mg/kg Side effects of recombinant GH are uncommon but include benign intracranial hypertension and slipped capital femoral epiphysis Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth