ESPE Abstracts

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

Background: Type 1 diabetes (T1D) in teenagers is challenging: the constraints of diabetes add up to the specificities of a delicate age; moreover, this period of life is often associated with impaired metabolic control (i.e. higher hemoglobin A1c - HbA1c). Therapeutic Patient Education (TPE) enables people with chronic diseases to manage their illness and yields benefits in both health and financial terms. The first step of TPE approach is to make an “educational diagnos...

The genomic analysis of 46,XX individuals with testes (known as testicular Disorders/Differences of Sex Development (TDSD) or ovotestes (ovotesticular DSD (OTDSD)) supports the hypothesis that ‘pro-testis/anti-ovary’ or ‘pro-ovary/anti-testis’ genetic pathways exist. These children typically present with virilized genitalia due to testosterone production from the presence of testicular tissue. Many individuals with TDSD and a minority with OTDSD have a tran...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

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...

Differences of sex development (DSD) are congenital conditions with discordance between chromosomal, gonadal and/or anatomic sex. DSD can be syndromic or non-syndromic based on the presence or absence of somatic anomalies, respectively. Variants in several genes have been identified in association with errors of testis determination and male genital differentiation. However, despite technological advances, a genetic diagnosis is not achieved in nearly 50% of individuals presen...

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...

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...