ESPE Abstracts

Background: Determination of obese children/adolescents at an increased risk of cardio-metabolic complications is of paramount significance for early intervention.Objective and hypotheses: To determine the value of simple anthropometric measures of obesity (BMI-SDS, waist circumference (WC)-SDS, waist-to-height ratio (WHR)) in the determination of individuals at an increased risk for selected cardio-metabolic complications (impaired glucose metabolism, d...

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...