ESPE Abstracts

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

Background: Hypotonia–Cystinuria syndrome (HCS), characterized by hypotonia at birth, poor feeding and growth retardation is an autosomal recessive disorder caused by homozygous microdeletions of PREPL and SCL3A genes. Increase in the urinary amino acids including cystine, lysine, arginine, and ornithine is the main laboratory finding.Objective and hypotheses: HCS was described in 17 patients so far and previous reports with favorable responses to G...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

Aim: This study aimed to compare the levels of appetite-regulating hormones (ghrelin, leptin, peptide-YY (PYY), neuropeptide-Y (NPY)) in girls with idiopathic central precocious puberty (ICPP) before treatment with prepubertal girls, and to evaluate changes in these hormone levels and body composition during leuprolide acetate (LA) treatment.Methods: This prospective, cross-sectional study included girls with ICPP, isola...

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...

Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe ne...

Objective: According to the etiology of hyperparathyroidism, it is divided into primer and secondary (uremic). It usually develops due to CaSR mutation in the infancy period. On the other hand, it usually emerges secondary to a parathyroid adenoma in adolescents. Parathyroid adenomas seen in childhood are commonly associated with familial multiple neoplasia syndromes (MEN). Patients may present with bone pain, proximal myopathy, fractures, renal stone, pancreatitis or they can...