Effect of pre-season training phase on anthropometric, hormonal and fitness parameters in young soccer players.

The aims of the study were to investigate 1) the effect of 8 weeks of PSP training on anthropometrics, salivary hormones and fitness parameters in youth soccer players, 2) the correlations between fitness and hormonal parameters, and 3) the impact of the experience of the coach and his methodology of training on these parameters. Weight, height, BMI, pubertal development (PDS), salivary Cortisol (sC), salivary Testosterone (sT), salivary sDHEAS, intermittent tests (VO2max), and countermovement jump test (CMJ) modifications of 35 youth soccer players (age: 14±0 yrs; BMI: 20.8±1.

Fertility in patients with nonclassical congenital adrenal hyperplasia.

Nonclassical congenital adrenal hyperplasia (NC-CAH) is by far a subtler and milder enzymatic defect to the classical form of the disease. A nuanced understanding of NC-CAH will lead to increased detection of the disorder in those initially misdiagnosed as having polycystic ovary syndrome, will assist in the detection of pregnancies at risk for severe genetic steroid disorders, and will facilitate appropriate ovulation induction and reduction in the hyperandrogenic symptoms which are a cornerstone of the disease. We describe the history of the disease as well as elucidate the pathophysiology, diagnosis, and treatment of the disorder.

Diagnostic evaluation in steroid-induced myopathy: case report suggesting clinical utility of quantitative muscle ultrasonography.

Purpose: We present a patient with adrenal Cushing's syndrome causing steroid myopathy. The purpose of the case report is to illustrate the clinical usefulness of quantitative muscle ultrasonography for the assessment of glucocorticoid-induced changes in muscle mass (MM) and structure.

Methods: Assessments of physical performance, muscle strength, MM (i.

Prevalence of obesity in Italian adolescents: does the use of different growth charts make the difference?

Background: Since populations are becoming increasingly multi-ethnic, the use of local or international charts is a matter of debate. This study aimed to evaluate how the choice of cut-off thresholds affected prevalence of underweight (UW), overweight (OW), obesity (OB) in 1200 11-12-year Italian adolescents, and how their somatic growth depended on parental origin.

Methods: The height, weight and body mass index were expressed as standard deviation score (SDS) using Italian (ISPED-2006) and UK (UK-1990) charts.

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame deletion.

Objective: Familial multinodular goiter (MNG), with or without ovarian Sertoli-Leydig cell tumor (SLCT), has been linked to DICER1 syndrome. We aimed to search for the presence of a germline mutation in a large family with a remarkable history of MNG and SLCT, and to further explore the relevance of the identified mutation.

Design And Methods: Sanger sequencing, Fluidigm Access Array and multiplex ligation-dependent probe amplification (MLPA) techniques were used to screen for mutations in germline DNA from 16 family members.

Pituitary Autoimmunity.

Pituitary autoimmunity, considered a synonym of autoimmune hypophysitis, defines a wide spectrum of conditions (neoplastic, functional, and iatrogenic pituitary disorders; and extra-pituitary autoimmune and non-autoimmune diseases), and is characterized by the presence of antipituitary antibodies (APAs) at various titer and prevalence. These conditions have been increasingly recognized not only in adults, but also in children. The autoimmune pathogenesis, histological features of the primary (i.

Congenital Adrenal Hyperplasia: Unresolved Issues.

Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis.

MANAGEMENT OF ENDOCRINE DISEASE: Long-term outcomes of the treatment of central precocious puberty.

GnRH analogues (GnRHa) are the treatment of choice for central precocious puberty (CPP), with the main objective to recover the height potential compromised by the premature fusion of growth cartilages. The aim of this review was to analyze long-term effects of GnRHa on height, body weight, reproductive function, and bone mineral density (BMD) in patients with CPP, as well as the potential predictors of outcome. Because randomized controlled trials on the effectiveness and long-term outcomes of treatment are not available, only qualified conclusions about the efficacy of interventions can be drawn.

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.

Objective: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis. It is estimated that more than 50% of boys with idiopathic adrenal insufficiency have mutations in the NR0B1 gene product, DAX1.

Identification of risk conditions for the development of adrenal disorders: how optimized PubMed search strategies makes the difference.

The exponential growth of scientific literature available through electronic databases (namely PubMed) has increased the chance of finding interesting articles. At the same time, search has become more complicated, time consuming, and at risk of missing important information. Therefore, optimized strategies have to be adopted to maximize searching impact.

Paediatric pituitary adenomas: a decade of change.

Pituitary adenomas, although rare in the paediatric age range and mostly benign, represent very challenging disorders for diagnosis and management. The recent identification of genetic alterations in young individuals with pituitary adenomas has broadened the scope of molecular investigations and contributed to the understanding of mechanisms of tumorigenesis. Recent identification of causative mutations of genes such as GNAS, PRKAR1A, MEN1 and AIP has introduced the concept of molecular screening of young apparently healthy family members.

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.

Objective: Premature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood. The aim of this study was to assess the relationship between the CYP21A2 genotype and baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) and cortisol serum levels in patients presenting with PP.

Patients And Methods: A total of 152 Italian children with PP were studied.

Metabolic and cardiovascular outcomes in a group of adult patients with Turner's syndrome under hormonal replacement therapy.

Objective: Turner's syndrome (TS) is a rare genetic disorder caused by complete or partial X chromosome monosomy in a phenotypic female, and it is associated with increased morbidity and mortality for cardiovascular diseases, impaired glucose tolerance, and dyslipidemia.

Subjects And Methods: In 30 adult TS patients under chronic hormonal replacement therapy (HRT), 17β-estradiol (E(2)), body mass index (BMI), waist circumference, fasting glucose and insulin, homeostatic model assessment (HOMA) index, serum lipids, oral glucose tolerance test (OGTT), 24 h ambulatory blood pressure monitoring (ABPM), and intima-media thickness (IMT) were evaluated and compared with those in 30 age- and sex-matched controls (CS).

Results: No difference was found between TS and CS in E(2) and BMI, whereas waist circumference was higher (P<0.

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.

Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease throughout the United States and in 12 other countries. As such, it seems important to develop the best practice guidelines for treating not only infants and children, but affected adults as well.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).

Participants: The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a methodologist, and a medical writer. Additional experts were also consulted.

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.

Context: Since the identification of GH deficiency due to resistance to GHRH in patients with pseudohypoparathyroidism type Ia (PHP-Ia), no study investigated the effects of recombinant human GH (rhGH) therapy on height velocity (HV) in these patients.

Objectives, Patients And Methods: To address this question, eight prepubertal PHP-Ia children with GH deficiency (seven girls and one boy, aged 5.8-12 yr) underwent a 3- to 8-yr treatment with rhGH.

Orderliness of cortisol, growth hormone, and leptin secretion in short-normal pre-pubertal boys and girls.

Background: The approximate entropy (ApEn) of the secretion of one hormone is a measure of its irregularity of secretion, while cross-approximate entropy (cross-ApEn) assesses the interaction between the secretion of two hormones. The aim was to assess the regularity and interplay of the secretory profiles of leptin (Le), cortisol (F), and growth hormone (GH).

Material/methods: Spontaneous 24-hour Le, F, and GH secretions were analyzed with ApEn and cross-ApEn in 11 short-normal pre-pubertal children (5 boys and 6 girls).

Ghrelin inhibits steroid biosynthesis by cultured granulosa-lutein cells.

Context: Growing evidence indicates that ghrelin may participate in the regulation of different aspects of reproductive function. The genes encoding for this peptide and its receptor are expressed in the human ovary, but their functional role is still unknown.

Objective: The aim of our study was to assess whether ghrelin has any effect on steroid synthesis by human granulosa-lutein cells and to identify the receptor isoform through which this potential effect is exerted.

Cut-off limits of the GH response to GHRH plus arginine test and IGF-I levels for the diagnosis of GH deficiency in late adolescents and young adults.

Objective: To define the appropriate diagnostic cut-off limits for the GH response to GHRH+arginine (ARG) test and IGF-I levels, using receiver operating characteristics (ROC) curve analysis, in late adolescents and young adults.

Design And Methods: We studied 152 patients with childhood-onset organic hypothalamic-pituitary disease (85 males, age (mean+/-s.e.

Prenatal and early postnatal treatment of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. The most frequent form of congenital adrenal hyperplasia is 21-hydroxylase (21-OH) deficiency, which in its severe form can cause ambiguous genitalia in the female patient. Recent advances in molecular genetic analysis allow for prenatal diagnosis and treatment of at-risk fetuses.

Clinical significance of the parental origin of the X chromosome in turner syndrome.

Context: The phenotype in Turner syndrome (TS) is variable, even in patients with a supposedly nonmosaic karyotype. Previous work suggested that there were X-linked parent-of-origin effects on the phenotype.

Hypothesis: The TS phenotype is influenced by the parental origin of the missed X chromosome.