Effects of recombinant human growth hormone on height and skeletal maturation in growth hormone-deficient children with and without severe pretreatment bone age delay.

UNLABELLED: The relative effects of growth hormone (GH) on GH-deficient (GHD) children with and without severely delayed skeletal maturation prior to treatment are unclear. METHODS: Pre-pubertal GHD children enrolled in the National Cooperative Growth Study were divided into two groups: severe pretreatment BA delay (BA Z-score

Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia.

PURPOSE: To document the association of neurohypophyseal dysgenesis with hypopituitarism in a child with primary bilateral anophthalmia. METHODS: An infant with bilateral anophthalmia underwent magnetic resonance imaging and endocrinologic evaluation. RESULTS: Magnetic resonance imaging showed dysgenesis confined to the hypothalamus and hypophyseal stalk. Endocrinologic testing showed low serum cortisol and pituitary gonadotropin levels. CONCLUSION: Magnetic resonance imaging can help predict which children with anophthalmia will have endocrinologic deficiencies.

Effective use of magnetic resonance imaging in the assessment of children with possible growth hormone deficiency.

OBJECTIVE: To present our experience with diagnosis of growth hormone (GH) deficiency in children and to determine which patients are most likely to benefit from magnetic resonance imaging (MRI). METHODS: We retrospectively reviewed medical records of pediatric patients who underwent assessment for possible GH deficiency during a 6-year period and correlated clinical variables, stimulated GH responses, and MRI findings. RESULTS: Of 100 children who failed outpatient GH screening tests, 14 were classified as at risk for hypothalamic pituitary defects, and 86 were considered not at risk, having short stature only. Patients were further stratified by age, sex, growth variables, maximal GH response to provocative testing, and MRI findings. A significant relationship existed between the presence of risk factors, maximal GH of <5 mg/L, and sellar defects. With no risk factors, MRI scans showed normal findings in 15 of 17 patients with maximal GH of <5 mg/L, in 33 of 34 patients with GH between 5 and 10 mg/L, and in all 35 patients with GH of >10 mg/L. Abnormal MRI findings included posterior pituitary ectopy, decreased pituitary size, absent midline central nervous system structures, enlarged infundibulum, and hamartoma. In one child with a 4-year history of growth failure and a maximal GH of 3.5 mg/L, craniopharyngioma was diagnosed. CONCLUSION: MRI scans should be obtained in any child with multiple pituitary hormone deficiencies, hypoglycemia, ophthalmologic anomalies, low-stimulated GH, or acquired growth failure. Otherwise asymptomatic children with growth delay and maximal GH of >10 mg/L do not need routine MRI screening. Such a strategy could result in substantial cost savings.

Glomerulopathy in patient with Donohue syndrome (leprechaunism).

OBJECTIVE: To evaluate renal structure in a child with Donohue syndrome (leprechaunism), who at 10 yr of age was noted to have hypertension, microalbuminuria, and enlarged kidneys, a renal biopsy was performed. RESEARCH DESIGN AND METHODS: The renal biopsy tissue was evaluated by light and electron microscopy with standard stereological techniques to measure glomerular volume, glomerular basement membrane width, fractional mesangial volume, and peripheral capillary filtering surface density. RESULTS: On renal biopsy, there was a marked increase in glomerular volume, glomerular basement width, and mesangial volume, findings similar to those seen in patients with diabetic nephropathy. CONCLUSIONS: This patient with marked insulin resistance associated with Donohue syndrome demonstrates renal and glomerular enlargement and morphometric glomerular changes similar to those seen in patients with diabetic nephropathy. In unusual syndromes with hyperglycemia and hyperinsulinemia, renal structural and functional changes typical of traditional diabetes mellitus may be seen.