ESPE Abstracts

Purpose: Disorders of sex development (DSD) have been linked with gene defects that lead to gonadal dysgenesis. Herein, we aimed at identifying the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea and 46,XY karyotype from a consanguineous family.Methods and Results: Whole exome sequencing (WES) was performed and revealed in homozygosity the rare and only once reported p.Arg164Pro missense mutatio...

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy to increase predicted adult height (PAH) in girls. Our previously published GAIL study (J Endocrinol Invest. 2016 Apr;39(4):439–46) has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in girls with early puberty +1.21 SDS (+7.51 cm) compared to inhibition of puberty alone +0.31 SDS (+1.92 cm), P=...

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...

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: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurodevelopmental condition in school-aged children, with a prevalence of 5–8%. In individuals with ADHD, there is an attenuated biologic stress response to challenging situations.Objective: This study aimed at evaluating the effectiveness of an 8-week stress management program, comprising self-applied cognitive exercises, on stress perception and anxiety symptoms, sleep...

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...

Introduction: Body composition analysis is a painless, bloodless and highly informative method of assessing health indicators that can be used extensively in the pediatric population. This is particularly important granted that the prevalence of childhood obesity has been increasing at a fast pace worldwide. Increased adiposity in children and adolescents is an important issue for children’s growth and psychologic development. Assessing the psychosocial status of children...

Introduction: Increased adiposity has been associated with smoldering systemic inflammation and metabolic syndrome manifestations, leading to further morbidity by increasing the risk for type 2 diabetes mellitus and cardiovascular disease in adults. Similar analyses have not been performed systematically in children and adolescents.Hypothesis: This study investigates the interrelations between body composition parameters and indices of inflammation and m...