A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

Objective: We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene.

Patients And Methods: A male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel.

Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center.

Background The approach to the clinical management of Graves' disease (GD) is debatable. This study aimed to identify predictors of remission in pediatric GD. Methods A longitudinal study of 36 children and adolescents with GD followed from 1997 to 2017 at a single tertiary hospital was performed.

[Thickening of the pituitary stalk in children and adolescents with central diabetes insipidus: Causes and consequences].

Background: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pituitary and hypothalamus region in order to identify the aetiology and the development of associated hormonal deficiencies.

Nutritional and Pubertal Disorders.

Caloric-protein malnutrition can slow growth and cause pubertal delay. This chapter focuses on endocrine abnormalities and pubertal alterations in patients with eating disorders, childhood obesity, the female athlete triad and children cancer survivors. Patients with anorexia nervosa (AN) exhibit multiple endocrine abnormalities, including isolated hypogonadotropic hypogonadism.

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway.

Objective: Our objective was to identify the phenotypic features that distinguish the two genotypes causing acrodysostosis.

[Endocrinological abnormalities in 1,105 children and adolescents with Down syndrome].

Background And Objective: Children and adolescents with Down syndrome (DS) show a greater prevalence of endocrinological abnormalities when compared with the general population. Our aim is to analyze endocrinological abnormalities in 1,105 patients with DS.

Patients And Methods: A review of 1,105 cases of children and adolescents with DS under care in our Department (ages between 0 and 18 years) analyzed retrospectively the presence of thyroid pathology and diabetes mellitus throughout development.

Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.

Context: ATP-sensitive potassium (KATP) channels regulate insulin secretion by coupling glucose metabolism to β-cell membrane potential. Gain-of-function mutations in the sulfonylurea receptor 1 (SUR1) or Kir6.2 channel subunit underlie neonatal diabetes.

Regional skeletal bone deficit in female adolescents with anorexia nervosa: influence of the degree of malnutrition and weight recovery in a two year longitudinal study.

Aim: To analyze changes in bone mineral density (BMD) and the effect of weight recovery on the restoration of bone mass in adolescent females with anorexia nervosa (AN) with moderate malnutrition.

Study Design: We evaluated lumbar and femoral BMD in 27 females with restrictive AN with malnutrition and amenorrhea for over (M+PA) or less than (M+SA) one year and 12 with normal nutrition and amenorrhea for over one year (N+PA) followed for 24 months.

Results: BMI remained below -1.

Regional fat distribution in adolescents with anorexia nervosa: effect of duration of malnutrition and weight recovery.

Objective: This study addresses the influence of the duration of malnutrition and the effect of weight recovery on regional fat mass distribution in moderately malnourished adolescents with anorexia nervosa (AN).

Study Design: We measured total and regional fat mass and leptin levels in 42 restrictive AN female adolescents and 23 controls. AN patients, followed over 2 years, were divided into three groups: prolonged moderate malnutrition (PM; secondary amenorrhea for over 1 year, n = 14); SM, short period of moderate malnutrition (secondary amenorrhea for less than 1 year, n = 13); and R, recovered from AN (BMI, body mass index and menses recovered for over 6 months, n = 15).