Gonadotropin secretion in girls with turner syndrome measured by an ultrasensitive immunochemiluminometric assay.

Background/aim: Gonadotropin levels measured by radioimmunoassays are high in girls with Turner syndrome (TS), but overlap significantly with those of normal girls. We hypothesized that gonadotropin levels would be above the normal range in TS when measured by ultrasensitive assays.

Methods: Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were measured in 68 TS, and 133 control girls using ultrasensitive immunochemiluminometric assays (ICMA).

Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).

Objective: To identify risk factors for permanent and transient congenital hypothyroidism (CH).

Design: A population-based case-control study was carried out by using the network created in Italy for the National Register of Infants with CH.

Methods: Four controls were enrolled for each new CH infant; 173 cases and 690 controls were enrolled in 4 years.

Growth and adult height in atypical coeliac patients, with or without growth hormone deficiency.

Objective: To evaluate the effect of a gluten-free diet on growth and adult height, when available, in coeliac children without gastrointestinal symptoms.

Patients And Methods: Sixty-one coeliac children without gastro-intestinal symptoms were included in the study. The age at diagnosis was 9.

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

Objective: The differential diagnosis of male under-masculinization, including a wide spectrum of phenotypes and a heterogeneous genetic basis, is crucial for the correct management of the patients. To characterize an Italian population of under-masculinized males, we performed the molecular analysis of the SRD5A2 gene (2p23), encoding the 5alpha-reductase-2 enzyme that converts testosterone (T) to dihydrotestosterone (DHT), and is required for full masculinization of the male foetus.

Design And Patients: Twenty-six Italian patients with 46,XY kariotype and various degrees of ambiguous genitalia were retrospectively selected for this study.

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.

The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors. There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients. The aim of our study was to evaluate a large number of patients with UTS, followed before and during the pubertal age for the prevalence of Y-chromosome derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplastic degeneration.

Active and total ghrelin concentrations in the newborn.

Background: Ghrelin is a peptide with a potent capacity to release GH and other metabolic activities. An acyl modification is indispensable for biological activity. Acylated and desacylated forms of ghrelin are both present in the blood.

Lung function in children with diabetes mellitus.

A cross-sectional study design was undertaken to assess pulmonary function in children with insulin-dependent diabetes mellitus (IDDM), and to establish if there is any relationship with diabetic factors and complications. Thirty-eight children (10 +/- 1.8 years) with IDDM and without clinical or radiological evidence of lung involvement, and 41 healthy age-matched reference subjects, underwent a pulmonary function study.

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.

In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, approximately 2-3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes.

The severity of clinical presentation of type 1 diabetes in children does not significantly influence the pattern of residual beta-cell function and long-term metabolic control.

Aim: The purpose of the present study was to compare relationships between the clinical presentation of type 1 diabetes in children and residual beta-cell secretion and long-term metabolic control.

Methods: This retrospective study was conducted in 66 diabetic children with age at diagnosis ranging from 0.7 to 14.

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule.

Objectives: To test the sensitivities of recently published American recommendations predicting occult intracranial lesion (OICL) in girls with central precocious puberty (CPP), and to validate a previously derived diagnosis rule predicting OICL based on age at puberty onset and estradiol (E2) level.

Study Design: A retrospective, multicenter, hospital-based, cohort study was performed, including all girls with CPP seen in 7 centers in 6 European countries during given periods. American recommendations and the previously derived diagnosis rule were tested.

Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?

Objective: To compare the effects of therapy with thyroxine (T4) plus triiodothyronine (T3) versus T4 alone from the first days of life in screened congenital hypothyroid (CH) infants.

Methods: We examined 14 CH infants diagnosed by neonatal screening and a group of control infants. CH patients were divided randomly into 2 groups, 1 treated with T4 alone (group 1) and the other treated with T4 plus T3 (liothyronine; group 2).

Noonan-like syndrome with loose anagen hair: a new syndrome?

We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair".

The glucose area under the profiles obtained with continuous glucose monitoring system relationships with HbA(lc) in pediatric type 1 diabetic patients.

Objective: The purpose of this study was to determine whether the continuous glucose monitoring system (CGMS) (MiniMed, Sylmar, CA) 1) is sufficiently representative of the overall metabolic control as assessed by HbA(1c), 2) could be used to identify a particular blood glucose threshold value affecting hemoglobin glycation; and 3) is able to show any relationship between particular glycemic profiles and HbA(1c) levels.

Research Design And Methods: Of 44 pediatric patients with type 1 diabetes who wore CGMS devices, 28 subjects were selected for the study. Criteria for inclusion were high levels of HbA(1c) (> or =8%) for more than 1 year or a history of frequent hypoglycemic episodes and a complete CGMS registration for 72 h.

Low birth weight for gestational age and subsequent male gonadal function.

Objective: To verify whether a reduced birth weight for gestational age was associated with a testicular dysfunction in postpubertal boys.

Study Design: Boys born small for gestational age (SGA) (n = 25) were compared to 24 born with an appropriate weight. All subjects were postpubertal (mean age 17.

Inhibin B levels in adolescents and young adults with type 1 diabetes.

Objective/methods: To assess exocrine and endocrine testicular function in subjects with diabetes, we evaluated serum inhibin B, gonadotrophins and testosterone levels in 33 male adolescent and young adult patients affected by type-1 diabetes (age 21.0 +/- 5 years; range 14.2-33.

Enhanced activity of the plasma membrane oxidoreductase in circulating lymphocytes from insulin-dependent diabetes mellitus patients.

Circulating human lymphocytes contain a transmembrane oxidoreductase (PMOR) capable of reducing dichlorophenol indophenol (DCIP) by endogenous reductants, presumably NADH. Membranes from lymphocytes obtained from buffy coats contain a NADH DCIP reductase having a K(m) of about 1 microM and almost insensible to dicoumarol. The PMOR of lymphocytes from insulin-dependent diabetic patients is higher than that from age-matched controls and, in addition, has a dicoumarol-sensitive component, lacking in most controls, presumably due to membrane association of DT-diaphorase.