ESPE Abstracts

Objective: Given a large number of false-positive growth hormone deficiency (GHD) diagnoses from a single GH stimulation test in normal children, two different pharmacological tests, performed on separate days or sequentially, are required. This study aims to assess the reliability and safety of a combined clonidine-arginine stimulation test (CACST).Design: Retrospective, single-center, observational study....

Objective: To describe the differences in metabolic parameters and in time to recovery from Diabetes ketoacidosis (DKA), between children and adolescents with newly diagnosed compared with established Type 1 Diabetes (T1DM).Methods: A single center, retrospective study. The cohort comprised 356 children and adolescents with T1DM who had DKA during 2008-2018. Data were obtained from the patients’ medical files. Recov...

Background and Aims: Optic pathway gliomas (OPGs) represent 2-5% of brain tumors in children. OPGs are classified by the anatomic location and whether they are associated with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities, including visual dysfunction, neurologic deficits, and endocrine dysfunction. The aim of our study was to assess the prevalence of endocrine dysfunctions in patients with ...

Background: Over the last thirty years, the incidence of adolescent obesity has quadrupled. While the physical risks of adolescent obesity have been well researched, there has been little research on its impact on mental health status and cognitive abilities. In the present study, we intend to examine whether nutritional intervention and weight loss affect executive functions and levels of depression of adolescent girls with overweight/obesity (OW/OB).<p c...

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

Background: The advantages of physical activity are particularly emphasized in children with type-1-diabetes and 60 minutes of regular daily activity is recommended. However, reports suggest that children with type-1-diabetes perform less than the recommended daily activity and are less active than their non-diabetic peers. This study aimed to: i) Identify barriers and sources of support for exercise performance in children and adolescents with type-1-diabetes. ii) Identify st...

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...

Background: Lifestyle interventions are basic tool to treat obesity in the youth. They prevent from civilisation diseases. Globally, there are many programmes including regular meetings with dieticians, exercise specialists, and others. Results are promising, although there’s no consensus regarding one model of recommended diet, exercise’s intensity and frequency of interventions.Objective and hypotheses: Assessment of preliminary results of &#...

Background: Childhood acute lymphoblastic leukemia (ALL) survivors are at increased risk for endocrine late effects.Objective and hypotheses: To evaluate growth and pubertal patterns in patients diagnosed with childhood ALL and to identify risk factors for impaired growth and puberty.Method: Retrospective chart review with longitudinal assessment of anthropometric measurements and pubertal status of 183 childhood ALL survivors diag...

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...