ESPE Abstracts

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

In young girls, the occurrence of secretory ovarian cysts may be the first manifestation of Mc Cune Albright Syndrome. We reported the evolutive profile of 8 patients with peripheral precocious puberty (PP) with (n=5 cases) or without metrorrhagia (n=3). On the first episode, they were 3.8 years old (range 2.5 to 7.25 years), the average diameter of the ovarian cyst was 38.5 mm (range 25 to 88 mm), the mean estradiol level was 32.5 pg/ml (range 3 to 160), mea...

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Pediatric non-alcoholic fatty liver disease (NAFLD) has increased in parallel with childhood obesity. Dietary habits, particularly products rich in sugars, may influence both hepatic fat content and insulin resistance. Hence, the aim of the current study was to examine the associations of the consumption of dietary foods (cereals, fruits and vegetables, meat and meat products, dairy products, fish and shellfish, total and added sugars) and composition (macronutrients and fiber...

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development and are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome) to milder degrees of undervirilization (partial and mild forms).Aims and objectives: To specify how a phenotype-genotype correlation can be refined by in vitro study based on the nature of amino acid substitutio...