High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy.

Study Objectives: We analyzed the potential predictive factors for precocious puberty, observed in some cases of childhood narcolepsy with cataplexy (NC) and for obesity, a much more common feature of NC, through a systematic assessment of pubertal staging, body mass index (BMI), and metabolic/endocrine biochemical analyses.

Design: Cross-sectional on consecutive recruitment.

Setting: Hospital sleep center and pediatric unit.

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Introduction: Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but the optimal age to initiate treatment and dosage pattern remain a matter of discussion.

Methods: We performed a long-term study of alternate-day corticosteroids in five 2- to 4-year-old DMD patients. The primary outcome measure was prolongation of the ability to walk.

Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.

The association between maturity onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM) has been rarely described. We report two patients affected by MODY who developed T1DM. Case 1: a 4-yr-old girl referred for glycosuria presented hemoglobin A1c (HbA1c) of 6.

High rate of regression from micro-macroalbuminuria to normoalbuminuria in children and adolescents with type 1 diabetes treated or not with enalapril: the influence of HDL cholesterol.

Objective: To evaluate the frequency of normalization, the persistence of remission, and the impact on normalization of glycemic control and lipid profile, we analyzed data from a retrospective observational cohort study of type 1 diabetic children and adolescents with abnormal urinary albumin excretion (UAE).

Research Design And Methods: All diabetic children and adolescents (n = 41) who had persistent abnormal UAE in the period of 1984 to 2008 and followed up until 2009 (follow-up duration = 13.1 ± 6.

Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions.

Objective: To compare the psychological adjustment and behaviour of congenital hypothyroidism (CH) children and their parents with a control group.

Study Design: A cross-sectional study was carried out with 84 CH subjects diagnosed by neonatal screening (range 2.7-18.

Update on age at menarche in Italy: toward the leveling off of the secular trend.

Purpose: To update the information on age at menarche in the Italian population and to verify the influence of genetic, nutritional, and socioeconomic factors on menarcheal age. Recent studies suggest that the magnitude of the secular trend toward an earlier age at menarche is slackening in industrialized countries.

Methods: This multicenter study was conducted on a large, population-based sample of Italian high school girls (n = 3,783), using a self-administered questionnaire.

Long-term clinical significance of thyroid autoimmunity in children with celiac disease.

Objective: To evaluate the long-term outcome of thyroid function and autoimmunity in a large series of children with celiac disease.

Study Design: This longitudinal, retrospective study (duration of follow-up, 8.9 +/- 4.

Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.

Context: Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism, a mild form of TSH resistance that is not as well characterized by diagnostic procedures.

Objective: The genetic analysis of the TSHR gene was performed to determine the prevalence of TSHR gene mutations in non-autoimmune subclinical hypothyroidism during the pediatric age. The new mutations were studied for genotypic-phenotypic correlation.

Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome.

Background: Patients with Turner's syndrome are at risk of aortic dilation and dissection. Currently, it is not known whether such dilation is related to associated cardiovascular abnormalities, or to the genetic anomaly itself.

Methods: We studied echocardiographically 107 patients with genetically proven Turner's syndrome, with heterogeneous underlying karyotypes, and without associated cardiac lesions.

Developmental syndromes: growth hormone deficiency and treatment.

Developmental syndromes are characterized by numerous phenotypical signs and malformations. In most of them such as Turner, Noonan, Prader-Willi, Silver-Russel, Williams, Kabuki, Leri-Weill syndrome and skeletal dysplasias, short stature is a common feature. Growth defect is very often related to a defect in cellular growth, but some unknown abnormality in GH action is possible.

Intravenous high-dose immunoglobulin treatment in recent onset childhood narcolepsy with cataplexy.

We report on the outcome of intravenous high-dose immunoglobulin (IVIg) treatment in four children with narcolepsy and cataplexy, in whom the early diagnosis and the extreme disease severity were indications for this potentially efficacious therapy. One of four patients showed an objective and persistent improvement in clinical features during and after IVIg treatment. Our data partially support the recent report of the efficacy of IVIg treatment in early diagnosed narcolepsy with cataplexy and support the need for a controlled multicenter clinical trial on IVIg in narcolepsy.

Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.

Background: Persistentmullerian duct syndrome (PMDS) is characterized by the presence of uterus, fallopian tubes and the upper part of the vagina in 46,XY patients with perfectly virilized external genitalia. It is mostly caused by mutations of the AMH or AMH type 2 receptor (AMHR2) gene. The AMH serum level is very often low or undetectable in the AMH gene defect and normal in the AMHR2 gene defect.

Quality of life, psychological adjustment and metabolic control in youths with type 1 diabetes: a study with self- and parent-report questionnaires.

Objective: To evaluate self and parent reports on quality of life (QoL) and psychological adjustment of youths with type 1 diabetes, in comparison to a general paediatric population, and identify relationships between disease duration, metabolic control and psychological parameters.

Research Design And Methods: Participants included 70 youths with type 1 diabetes and their parents. They were compared with 70 non-diabetic subjects.

Prevalence of celiac disease in children with type 1 diabetes mellitus increased in the mid-1990 s: an 18-year longitudinal study based on anti-endomysial antibodies.

Between 1987 and 2004, 331 consecutive children, all newly diagnosed with type 1 diabetes mellitus in our pediatric clinic, underwent repeated serological screening for celiac disease (CD) by means of anti-endomysial antibodies, measured prospectively between 1994 and 2004, and retrospectively, using frozen banked serum, between 1987 and 1993. There were 22 cases (6.6%) of biopsy-proven CD among the 331 diabetic children.

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

Context: Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome (OMIM 160980). About 70% of cases are familiar; most have mutations of the PRKAR1A gene on chromosome 17q22-24. There is little phenotype-genotype correlation known to date.

Airway inflammation and lung function decline in childhood post-infectious bronchiolitis obliterans.

Post-infectious bronchiolitis obliterans (PBO) is a rare form of chronic obstructive lung disease in children with few data on the pulmonary function outcome and underlying inflammatory process. The aim of this study was to determine the change in lung function over time and to investigate by bronchoalveolar lavage (BAL) the inflammatory characteristics of pulmonary involvement. Eleven Caucasian children with PBO were evaluated to estimate the average rate of change in lung function indices using a mixed model.

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.

Objective: The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2).

Design: Aim of the study was to analyze the NR3C2 gene in three Italian patients with clinical signs of renal PHA1 and to evaluate the distribution of the -2G > C, c.538A > G, and c.

Reproductive outcome in patients treated and not treated for idiopathic early puberty: long-term results of a randomized trial in adults.

Objective: To evaluate the adult reproductive outcome in girls with early puberty who participated in a previous random study.

Study Design: A total of 22 subjects treated with triptorelin 3.75 mg every 4 weeks (group 1), 18 subjects not treated (group 2), and 22 age-matched normal volunteers (control group) underwent a physical examination, serum hormone level determination, and pelvic ultrasonography.

Effect on adult height of pubertal growth hormone retesting and withdrawal of therapy in patients with previously diagnosed growth hormone deficiency.

Context: GH replacement therapy in GH-deficient (GHD) patients is usually continued until adult height despite the fact that most of these subjects display a normal secretion when retested at the end of growth. Puberty is the most likely time for normalization of GH secretion.

Objectives: The objectives of this study are to establish the characteristics and the percentage of the subjects with isolated GHD who normalized secretion at puberty and to compare their statural outcomes with those of the subjects with persistent deficiency treated also after retesting.

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.

Objective: Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypogonadotropic hypogonadism (HH). We describe the molecular investigations of the GnRHR gene in two siblings affected by HH and their clinical course.

Design: The female was referred at age 14 for pubertal delay with no secondary sexual signs, whereas the male had been followed since prepuberty.

Utero-ovarian ultrasonographic and Doppler flow analyses in female childhood cancer survivors with regular menstruation and normal circulating follicle-stimulating hormone levels.

Objective: To analyze the hormonal, ultrasonographic, and color Doppler parameters in a population-based follow-up study of female childhood cancer survivors with regular menstrual cycle and normal early follicular FSH values.

Design: Controlled, prospective clinical study.

Setting: University hospital.

Turner syndrome, insulin sensitivity and growth hormone treatment.

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10-34% of patients with TS, and type 2 diabetes mellitus is 2-4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.

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.