Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

The IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies. Four children (three males, one female) from a large pedigree (five generations) were studied. Additional members (n = 10), who died during the neonatal period, were born with IUGR and/or hyperpigmentation and are presumed to have been affected, too.

Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.

We report a novel germ-line point mutation in the von Hippel-Lindau (vhl) gene in a family with childhood occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extra-adrenal localization.

Neonatal TSH levels as an index of iodine sufficiency: differences related to time of screening sampling and methodology.

Introduction: Current WHO guidelines consider that under adequate iodine intake <3% of newborns should have neonatal TSH levels of >5 mU/l blood when screening is performed in cord blood or at 3 days to 3 weeks of age.

Objective: To estimate whether this absolute criterion when applied to newborns older than 48 h of age and native to Buenos Aires coincides with the traditional ones (goiter and urinary iodine in school-age children (SAC)), and if the evaluation varies with either the methodology used for TSH measurements and/or the time of specimen sampling.

Population And Methods: TSH was measured by an immunofluorometric assay (IFMA) on filter paper blood spots of 186 cord blood samples, 112 babies <48 h of age and 1,500 newborns >48 h of age, and by immunoradiometric assay (IRMA) in 238 newborns.

Subcellular and molecular mechanisms regulating anti-Müllerian hormone gene expression in mammalian and nonmammalian species.

Anti-Müllerian hormone (AMH) is best known for its role as an inhibitor of the development of female internal genitalia primordia during fetal life. In the testis, AMH is highly expressed by Sertoli cells of the testis from early fetal life to puberty, when it is downregulated by the action of testosterone, acting through the androgen receptor, and meiotic spermatocytes, probably acting through TNFalpha. Basal expression of AMH is induced by SOX9; GATA4, SF1, and WT1 enhance SOX9-activated expression.

Altered serum profile of inhibin B, Pro-alphaC and anti-Müllerian hormone in prepubertal and pubertal boys with varicocele.

Objective: Anti-Müllerian hormone (AMH) and inhibin B are reliable markers of Sertoli cell function. The aim of the present study was to assess the functional state of Sertoli cells in order to detect early changes in the testicular function of prepubertal and pubertal patients with untreated grade II or III varicocele.

Design And Patients: Seven prepubertal and 55 pubertal boys with untreated grade II or III varicocele were studied.

What is the daily practice of mechanical ventilation in pediatric intensive care units? A multicenter study.

Objective: To describe the daily practice of mechanical ventilation (MV), and secondarily, its outcome in pediatric intensive care units (PICUs).

Design: Prospective cohort of infants and children who received MV for at least 12 h.

Setting: Thirty-six medical surgical PICUs.

Insulin enhances L-dopa renal proximal tubule uptake: a regulatory mechanism impaired in insulin resistance.

A stimulatory role for insulin in the uptake of neutral amino acids has been reported for a variety of tissues. Here we examine the effect of insulin on L-dopa uptake by proximal tubule cells (PT cells) isolated from control and fructose-fed rats (FR-rats, 10% w/v fructose solution in tap water), a model of insulin resistance. Insulin (200 microU/ml) increased L-dopa uptake into PT cells by about 50% (705+/-186 vs.

FSH activates phosphatidylinositol 3-kinase/protein kinase B signaling pathway in 20-day-old Sertoli cells independently of IGF-I.

The gonadotropin FSH plays a key role in the control of Sertoli cell function. The FSH molecular mechanism of action is best recognized for its stimulation of the adenylyl cyclase/cAMP pathway. However, other signaling events have also been demonstrated in Sertoli cells.

Pediatric Graves' disease: outcome and treatment.

Unlabelled: Graves' disease treatment in children and adolescents includes antithyroid drugs (ATD), 131I (RI) or subtotal thyroidectomy (CX), all of which present beneficial effects and disadvantages.

Objective: To review our experience in the management of pediatric patients with Graves' disease considering the therapeutic strategies used.

Patients And Methods: Clinical and biochemical data of 116 children (23 boys) aged 11.

AMH/MIS: what we know already about the gene, the protein and its regulation.

(AMH/MIS) was first suggested by Jost, more than Four decades before this gonadal glycoprotein was purified and its gene and promoter sequenced. In mammals, AMH expression is triggered by SOX9 in Sertoli cells at the onset of testicular differentiation, and regulated by SF1, GATA factors, WT1, DAX1 and FSH. Ovarian granulosa cells also secrete AMH from late foetal life.

The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism.

Background: Congenital isolated thyrotropin (TSH) deficiency is an unusual condition characterized by low levels of thyroid hormones and TSH, usually presenting early typical signs of severe hypothyroidism. Five different beta-TSH mutations have been described so far. While 4 of them affect only consanguineous families, a frameshift mutation in exon 3 (C105fs114X) has been found also in nonconsanguineous families.

Possible role of arachidonic acid in the regulation of lactate production in rat Sertoli cells.

The aim of the study was to determine whether arachidonic acid (AA) is involved in the regulation of Sertoli cell lactate production and if this fatty acid participates in follicle-stimulating hormone (FSH) regulation of Sertoli cell function. In a first set of experiments the effect of AA and porcine pancreas phospholipase A2 (PLA2) on lactate production, glucose uptake, lactate dehydrogenase (LDH) activity and LDH A mRNA levels in Sertoli cell cultures obtained from 20-day-old rats was evaluated. In a second set of experiments the effect of two PLA2 inhibitors--quinacrine (Q) and AACOCF3--on FSH stimulation of the above-mentioned parameters of Sertoli cell function was investigated.

How to evaluate gonadal function in the cryptorchid boy. Lessons from new testicular markers.

In normal clinical practice, testicular evaluation in boys has relied on palpation and testosterone determination after hCG stimulation, which reflects the activity of interstitial Leydig cells. However, the most active compartment of the testis before puberty is the seminiferous tubule compartment, in which Sertoli cells proliferate and secrete anti-Müllerian hormone (AMH) and inhibin B. The recent development of commercially available assays for these two peptides has provided the pediatrician with excellent tools to assess the existence of functional testicular tissue in boys with no need for hCG stimulation.

[Subacute sclerosing panencephalitis: fulminant form].

Introduction: Subacute sclerosing panencephalitis (SSPE) has become less frequent as a consequence of massive anti measles vaccination. Early infection or immunological factors could increase the risk of its appearing and of evolved forms of the disease.

Case Reports: We describe the cases of four patients with fulminating forms of SSPE: a girl who had measles at the age of eight months; a male who, without actually suffering the clinical disease, came into contact with measles in the family and, despite having been vaccinated, presented SSPE 18 months after the contact; a boy aged 4 years and 4 months who had measles at the age of 6 months, and a boy of a similar age who had the illness when he was one year old.

Thyroid dysfunction and high thyroid stimulating hormone levels in children with Down's syndrome.

Unlabelled: In order to delineate the spectrum of thyroid abnormalities in children with Down's syndrome (DS), first visit height data (SDS) and serum TSH, T4 and antiperoxidase antibodies concentrations were retrospectively evaluated in 137 children (71 girls) with DS (0.04-16 years).

Results: Congenital hypothyroidism was detected in 2.

Modulation by polyamines of gamma-glutamyl transpeptidase activity and lactate production in cultured Sertoli cells from immature and adult regressed golden hamster.

Polyamines are involved in cellular growth and differentiation. To analyze a possible role of polyamines on the regulation of Sertoli cell function, we studied the effect of putrescine, spermidine, and spermine on gamma-glutamyl transpeptidase (gamma-GTP) activity and lactate production on Sertoli cell cultures obtained from immature and adult-regressed golden hamsters. Sertoli cells were cultured for 7 days.

[Behçet's disease in children: cortical calcifications].

Introduction: Between 5 and 48% of the patients with Behçet s disease have neurological abnormalities. In children, meningoencephalitis as an initial manifestation of the disease is not frequent.

Case Report: We present a four years old girl with a Behçet s disease.

Regulation of rat Sertoli cell function by FSH: possible role of phosphatidylinositol 3-kinase/protein kinase B pathway.

The FSH molecular mechanism of action is best recognized for its stimulation of the adenylyl cyclase/cAMP pathway via activation of a G protein. Recently, links between cAMP, phosphatidylinositol 3-kinase (PI3K) and protein kinase B (PKB) signaling pathways in thyroid and granulosa cells have been observed. The aim of this study was to investigate the possible role of the PI3K/PKB pathway in FSH regulation of Sertoli cell function.

Amplified and orderly growth hormone secretion characterizes lean adolescents with polycystic ovary syndrome.

Objective: The present study evaluated the hypothesis that pulsatile GH secretion is altered in adolescents with polycystic ovary syndrome (PCOS).

Design And Patients: Thirteen adolescent girls with PCOS (ages 13-19 years) and ten eumenorrheic controls (ages 14-19 years) matched for a range of body mass index (BMI) values underwent blood sampling every 20 min for 12 h overnight.

Methods: Serum concentrations of GH and LH were measured by specific immunofluorometric assays (IFMA).

[Hereditary progressive levodopa sensible: Segawa's syndrome].

Introduction: Hereditary progressive childhood dystonia with diurnal fluctuation of symptoms, belongs to the dopa responsive dystonias. It is dominantly inherited with variable penetrance, with deficiency in the cyclohydrolase I GTP gene.

Objective: Levodopa treatment is useful and diagnosis may be done on fluctuant dystonia in the childhood.

Detrusor after-contractions in children with normal urinary tracts.

Objective: To assess the clinical significance of after-contractions (A-Cs) in children with normal urinary tracts.

Patients And Methods: Urodynamic records obtained in 315 children with urinary infection or enuresis were reviewed retrospectively; 184 were selected for analysis of A-Cs. All patients had normal urinary tracts and none showed signs of an overt neuropathy.

An evaluation of extubation failure predictors in mechanically ventilated infants and children.

Objective: To assess the accuracy of traditional weaning indices in predicting extubation failure, and to compare their accuracy when indices are measured at the onset of a breathing trial (SBT) and at the end of the SBT before extubation.

Design: Prospective study.

Setting: Medical-surgical intensive care unit at a tertiary care hospital.

Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers.

Background: Multiple endocrine neoplasia type 2 (MEN 2) is an inherited disease caused by germline mutations in the RET proto-oncogene, and is responsible for the development of endocrine neoplasia. Its prognosis is dependent on the appearance and spread of medullary thyroid carcinoma (MTC). Relatives at risk can be identified before clinical or biochemical signs of the disease become evident.

Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol.

Objective: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17 alpha-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH).

Patients And Methods: In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened.