The Journal of pediatric endocrinology最新文献

We report results of serum thyroid hormone and IGF-1 concentrations in 20 children, 1.2 to 13.6 years old, with various degrees of chronic liver dysfunction (CLD), before and after successful orthotopic liver transplantation (OLT). Ten children presented with moderate chronic liver disease (CLD-M) with prothrombin time (PT) > 50% and serum albumin concentration > 3 g/dl; 7 children had severe chronic liver disease (CLD-S) with PT < 50% and serum albumin concentration < 3 g/dl; and 7 children who had received an OLT, who had normal liver function at the time of the study. Four of the latter group were also studied before OLT. Patients with CLD-M had normal mean +/- SD serum levels of total T3 (2.0 +/- 0.7 nmol/l), total T4 (125 +/- 25.9 nmol/l) and fT4 concentrations (16 +/- 2.8 pmol/l). In contrast, children with CLD-S showed a significant decrease in thyroid hormones together with normal basal TSH values (T3 0.8 +/- 0.0 nmol/l; T4 45.6 +/- 19.5 nmol/l; fT4 7.4 +/- 1.1 pmol/l; TSH 3.8 +/- 0.9 mU/l). Patients who received a successful OLT showed mean peripheral thyroid hormone concentrations significantly higher than CLD-S patients (T3 1.7 +/- 0.7 nmol/l, p < 0.005; T4 92.8 +/- 18.2 nmol/l, p < 0.001; fT4 14.5 +/- 3.1 pmol/l, p < 0.001). A significant correlation was found between thyroid hormone levels and PT or serum albumin. In the nine patients with CLD-M and CLD-S in whom serum IGF-1 concentration was measured, values found (mean +/- SD 0.08 +/- 0.05 U/ml) were below the 95% confidence limit of matched controls.

We report the first case of Laron syndrome (LS) diagnosed in Slovenia. The boy, a product of non-consanguineous Slovenian parents of normal height, presented with slow growth and motor development since birth. At age 4 and 6 years, he had all the characteristic signs of LS, identical to those in growth hormone deficiency (GHD). Laboratory tests showed hypoglycemia, markedly elevated plasma hGH, low serum insulin-like growth factor-1 (IGF-1) with no rise after exogenous hGH, and low serum growth hormone binding protein (GHBP). A sister of the maternal grandfather is short (145 cm) and was found to have below normal serum GHBP, findings compatible with heterozygocity for this disorder.

Hypothalamic dysfunction is common in patients with anorexia nervosa, but typically follows reductions of body weight to well below ideal body weight. We report a patient with hypothalamic dysfunction accompanying volitional weight reduction, whose body weight never fell below ideal body weight and whose hypothalamic function improved following weight gain. These observations suggest that the "set point" for normal hypothalamic function may exceed ideal body weight in some patients. In addition, hypothalamic dysfunction may persist for months following weight gain and the resumption of menses.

Over the past three decades, a great deal of evidence has accumulated in favor of the hypothesis that steroid hormones act via regulation of gene expression. The action is mediated by specific nuclear receptor proteins, which belong to a superfamily of ligand-modulated transcription factors that regulate homeostasis, reproduction, development and differentiation. This family includes receptors for steroid hormones, thyroid hormones, hormonal forms of vitamin A and D, peroxisomal activators, and ecdysone. Molecular cloning and structure/function analyses have revealed that all members of the steroid/thyroid hormone/retinoic acid receptor family have a similar functional domain structure: a variable N-terminal region, which is involved in modulation of gene expression; a short well-conserved DNA-binding domain, which is crucial for recognition of specific DNA sequences and for receptor dimerization; and a partially conserved C-terminal ligand-binding domain, which is important for hormone binding and also for receptor dimerization and transactivation. In contrast to other members of the receptor superfamily steroid hormone receptors form transient complexes with several heat shock proteins. This interaction promotes proper folding and stability of the receptor molecule. Hormone binding induces a conformational change in the receptor molecule and simultaneously a dissociation of all heat shock proteins, which results in DNA-binding of the hormone-receptor complex.(ABSTRACT TRUNCATED AT 250 WORDS)

A 7 year-old Turkish boy presented with a euthyroid goiter, which was noted during evaluation of familial Mediterranean fever. Amyloid deposits in the thyroid were found on fine-needle aspiration biopsy. Slight involution of the goiter within seven months may be attributed either to colchicine therapy or to treatment with levothyroxine and iodide.

Thyroid function and iodine levels of 30 preterm neonates were examined before and up to five days after topical exposure to 10% povidone-iodine application. Urinary iodine excretion significantly increased in the group closest to term (8.9 +/- 1.2 mg I/g creatinine x 10) vs controls (3.5 +/- 0.5 mg; p < 0.01). T3 levels significantly decreased at all sub-group gestational ages vs controls (p < 0.01-0.05). Similarly, both FT4 and TT4 levels were lower in the subgroups vs controls (p < 0.01-0.05). TSH levels however did not rise in any group. These data suggest partial failure of thyroid hormone synthesis, in a population of high-risk infants possibly already exhibiting features of the euthyroid-sick syndrome. Topical iodine-containing antiseptic solutions should be used with caution in this population since these antiseptics may modify serum thyroid hormone concentrations rapidly.

The association between diabetic ketoacidosis and acute pancreatitis is examined with reference to four patients. Hypertriglyceridemia was noted in only one of the patients. The pancreatitis was relatively mild and resolved rapidly.

Advances in technology have made possible the prenatal diagnosis and treatment of female fetuses with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hormonal measurement of 17-hydroxyprogesterone, androstenedione, testosterone and 21-deoxycortisol and HLA typing and DNA analysis for 21-OH/C4/HLA class I and II genes in chorionic villus cells and amniocytes are utilized for prenatal diagnosis. Maternal dexamethasone administration begun in the first trimester has prevented or ameliorated virilization in approximately three-fourths of infants. Maternal estriol levels appear to be the most accurate measure of fetal adrenal suppression. Maternal side effects are not infrequent and include excess weight gain, edema, glucose intolerance, hypertension and gastrointestinal problems. Severe permanent striae have been reported. Although no complications of prenatal treatment in the treated fetus or child have been reported long-term follow-up with careful neuropsychologic evaluation is not yet available and is necessary to fully evaluate possible long-term side-effects of prenatal dexamethasone treatment.

We present a case of gonadotrophin-independent precocious puberty, as seen in McCune-Albright syndrome, and Leri-Weill dyschondrosteosis in a six and a half year-old girl. Her father also reports having early puberty and is similarly affected with dyschondrosteosis. This combination of features has not been reported previously, and represents the association of a skeletal dysplasia with an endocrinopathy.