ESPE Abstracts

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Background: Chronic stress and increased adiposity have been associated with each other in children. Further studies are needed, however, to evaluate both the directionality of this association and the mediating metabolic mechanisms.Objective and hypotheses: This study investigates the interrelations between BMI, body composition parameters, indices of the stress response, such as hair and salivary cortisol levels, and, metabolic mediators, such as insul...

Background: Several studies have correlated Assisted Reproduction Technologies (ART) including classic IVF and Intacytoplasmic Sperm Injection (ICSI) with epigenetic alterations in the offspring that could have long lasting unfavorable metabolic effects. Proteomics, a state-of-the-art technology used for the identification of early biomarkers of disease, has already been implemented in the search of success in ART but not yet for such markers evaluation in offspring of ART.</p...

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...

Background: The association of GH deficiency (GHD) with central precocious puberty (CPP) has been reported in individuals with central nervous system (CNS) abnormalities, congenital or acquired. Co-existence of GHD and CPP has been rarely reported, always as an isolated, sporadic disorder.Objective and hypotheses: To present the familial occurrence of combined GHD and CPP.Method: GH was measured post L DOPA, glucagon and GHRH and g...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...