Risk evaluation of vitamin D insufficiency or deficiency in children using simple scores: The Healthy Growth Study.

Although identification of population groups at high risk for low vitamin D status is of public health importance,there are no risk prediction tools available for children in Southern Europe that can cover this need. The present study aimed to develop and validate 2 simple scores that evaluate the risk for vitamin D insufficiency or deficiency in children. A cross-sectional epidemiological study was conducted among 2280 schoolchildren (9--13-year-old) living in Greece.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Context: Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency.

Objective: To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency.

Adrenal Steroids in Female Hypothyroid Neonates: Unraveling an Association Between Thyroid Hormones and Adrenal Remodeling.

Context: The adrenal gland undergoes substantial remodeling during the neonatal period, an essential developmental process that remains incompletely understood. With respect to control over the remodeling process and, specifically, the role of thyroid hormones (THs), no human studies have been published. The effects of both hypo- and hyperthyroidism have only been evaluated in adults, focusing on the mature adrenal.

Effect of honey on glucose and insulin concentrations in obese girls.

Background: Childhood obesity represents a major health problem of our century. The benefits of natural products, such as honey, in the management of obesity have gained renewed interest. In this study, we investigated the effect of honey on glucose and insulin concentrations in obese prepubertal girls.

Vitamin D insufficiency is associated with insulin resistance independently of obesity in primary schoolchildren. The healthy growth study.

Objectives: To explore the associations of vitamin D status and obesity with insulin resistance (IR) in children.

Methods: A sample of 2282 schoolchildren (9-13 years old) in Greece was examined. Sociodemographic, anthropometric (weight, height), biochemical (fasting plasma glucose, serum insulin and 25(OH)D), pubertal status and physical activity data were collected, using standard methods.

Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH).

Background: The adequacy of cortisol response in non-classical congenital adrenal hyperplasia (NCCAH) has not been fully elucidated. The aim was to evaluate cortisol response to adrenocorticotropin (ACTH) stimulation test in children and adolescents with NCCAH and heterozygotes for CYP21A2 gene mutations.

Methods: One hundred and forty-six children and adolescents, mean age 7.

Transient generalized glucocorticoid hypersensitivity.

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypo-activation of the hypothalamic-pituitary-adrenal axis. The condition itself and the underlying molecular mechanisms have not been elucidated.

Objective: To present the clinical manifestations, endocrinologic evaluation and transcriptomic profile in a patient with transient generalized glucocorticoid hypersensitivity.

Long-term clinical data and molecular defects in the STAR gene in five Greek patients.

Context: Steroidogenic acute regulatory (STAR) gene mutations lead to adrenal and gonadal failure. Interesting, though as yet unexplained, features are the formation of ovarian cysts and the potential presence of CNS findings.

Objective: To report biochemical, genetic, and long-term clinical data in five Greek patients from four different families with STAR gene defects (three 46,XX and two 46,XY).

Decreased circulating 25-(OH) Vitamin D concentrations in obese female children and adolescents: positive associations with Retinol Binding Protein-4 and Neutrophil Gelatinase-associated Lipocalin.

Objective: Hypovitaminosis D has been associated with adult as well as childhood obesity. Retinol-binding-protein-4 (RBP-4) and Neutrophil Gelatinase-associated Lipocalin (NGAL) are altered in obese individuals. The aim of this study was to examine circulating 25-(OH) Vitamin D (25-(OH) D) concentrations according to BMI and its associations with RBP-4 and NGAL in female children and adolescents.

A favorable metabolic and antiatherogenic profile in carriers of CYP21A2 gene mutations supports the theory of a survival advantage in this population.

Context: The very high carrier frequency of 21-hydroxylase deficiency worldwide has been postulated as indicating a survival advantage. The 'mediators' of such an effect remain speculative.

Objective: To look for possible differences in the metabolic and atherogenic risk profile of carriers and noncarriers of CYP21A2 gene mutations at puberty in order to identify possible mediators of the presumed survival advantage for the carriers.

Elevated coagulation and inflammatory markers in adolescents with a history of premature adrenarche.

Females with a history of premature adrenarche are at high risk of developing polycystic ovary syndrome (PCOS) and features of the metabolic syndrome later in life. Coagulation disorders, subclinical inflammation, and oxidative stress have been reported in patients with PCOS and metabolic syndrome. These factors were studied in a group of adolescents with a history of premature adrenarche.

Non-classical congenital adrenal hyperplasia.

Deficiency of 21-hydroxylase constitutes the most frequent form of Congenital adrenal hyperplasia (CAH) and is classified into classical and nonclassical (NC) forms. The type of the molecular defect determines the severity of the phenotype with a high degree of concordance for the classical genotypes but with lower concordance for the NC genotypes. The clinical expression of NC-CAH is quite variable ranging from an asymptomatic state to premature pubarche, hirsutism, acne, menstrual irregularities, infertility and increased rate of spontaneous abortions.

Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).

Objective: To identify the genetic defect in a neonate presented with prolonged jaundice and central hypothyroidism.

Design: Central hypothyroidism was detected in a neonate initially examined for prolonged jaundice, and levothyroxine therapy was initiated. Direct sequencing of the Prop1 gene was carried out and pituitary function and morphology were evaluated using hormonal testing and magnetic resonance imaging (MRI) respectively.

Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of a case and review of the literature.

Studies of distinct clinical prototypes have significantly contributed to our understanding of evolutionary abnormalities and their association with neoplasia. We describe a phenotypic female, aged 20 years at report, who was examined as an infant for developmental retardation. The clinical characteristics of the 9p- syndrome were present and the external genitalia were those of a normal female.

Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.

Isolated congenital hypothyroidism resulting from mutation of the TSH beta-subunit gene, has rarely been reported. In the present article, we report a new mutation (C85R) in exon 3 of the TSH beta-subunit gene in one sporadic case and the mutation Q49stop in two siblings with congenital hypothyroidism. The novel mutation is a T to C transition at codon 85, resulting in a change of cysteine to arginine (C85R) of the ss-subunit.