ESPE Abstracts

Background: Gestational exposure to endocrine disrupting chemicals (EDCs) can impact the control of sexual differentiation by altering the hormonal environment of the foetus. Prenatal exposure to BPA, for instance could lead to disorders of sexual development. At the interface between the mother and the foetus, the placenta plays a key role in foetal programming and responds to environmental stressors in a sex specific manner. Epigenetics has appeared to be a key mechanism for...

Background: Both undernutrition and chronic inflammation impair linear growth through resistance to GH. Fibroblast growth factor 21 (FGF21) is known as an important regulator of the metabolic adaptation to fasting. Elevated expression of FGF21, secondary to prolonged undernutrition has been identified to develop GH resistance and subsequent attenuation of skeletal growth and growth plate chondrogenesis in both mice and human. However, the mechanism of FGF21&#1...

Background: The rapidly increasing T1D incidence in European children suggests the recent emergence or extension of predisposing E factors, or the decrease of protective E factors acting during pregnancy, infancy or early childhood. E research has preferentially focused on specific candidate factors, such as hygiene hypothesis, enteroviruses, alimentation, in cohort or case-control studies. The risk of bias is a major concern in E studies.Objectives: To ...

Background: Inhalation corticosteroids (ICS) as treatment for asthma can interfere with the hypothalamic-pituitary-adrenal axis and could lead to hypocortisolism. The frequency of this systemic side effect and the correlation to ICS usage is still unclear. Given that the cortisol excretion is pulsatile and determined by acute stress and circadian rhythms, the usefulness of tests based on momentary measures, such as saliva or serum are therefore limited. Cortisol levels measure...

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

Background: Aberrations in the timing of puberty may result in significant adverse health outcomes, including cancers, cardiovascular and neurological pathologies. Self-limited delayed puberty (DP) (i.e. constitutional delay of puberty) runs in families with either autosomal dominant or complex inheritance patterns in >70% of families, indicating a strong genetic basis of the trait. However, only a few genes have been identified underlying DP so far....

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...