ESPE Abstracts

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

Background: Hypersexualized behaviour in the paediatric population is a rare phenomenon. The aetiology of paraphilia is not completely understood, but some studies suggest imbalance of the dopamine serotonin system. Paraphilia has also been described as a side-effect of treatment with monoaminooxidase inhibitors (MAOI) and dopamine agonists. Most of the currently used pharmacologic treatments of the paraphilias have serotonin and testosterone/dihydrotestosterone as their targe...

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: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

Background: We report here the case of a 5-week-old male patient, referred to the hospital because of failure to thrive. An adrenal insufficiency was diagnosed and the genetic testing showed a mutation in the DAX1 gene leading to a premature stop codon.In addition to adrenal hypoplasia congenita, DAX1 mutation is known to be classically associated with hypogonadotrophic hypogonadism which is mostly characterized by absence of onset of puberty and inferti...

Background: Because the success rate of lifestyle interventions is modest in severely obese adolescents, surgical treatments are now proposed. Laparoscopic adjustable gastric banding (LAGB) represents an attractive treatment with minimal morbidity and reversible procedure.Method: All adolescents were included in prospective longitudinal assessment and entirely managed by a pediatric team. Surgery was proposed only after at least 1-year lifestyle interven...

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...