ESPE Abstracts

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.Design an...

Introduct&idot;on: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by damage to β cells in the pancreas. Neopterins and indolamine 2,3-dioxygenase (IDO) activity, which is shown by the ratio of kynurenine to tryptophan, can be used as an indicator in the regulation of cellular immunity. Oxidative stress produced by xanthine oxidoreductase has been shown to be associated with vascular endothelial dysfunction. It uses the conversion of p...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

Aim: Physical damage to hypothalamus, can lead to autonomic dysregulation, temperature imbalance, increased appetite, and obesity. We aim ed to determine the risk factors for the development of hypothalamic obesity.Methods: The cases were evaluated based on location, size of the mass, treatment modality (surgery or radiotherapy), pathology result, presence of hydrocephalus, family history of consanguinity and obesity, co...

Introduction: Desert hedgehog (DHH) is mainly involved in testicular development and peripheral nerve sheath formation. DHH protein is produced by Sertoli cells and promotes Leydig cell development. It regulates androgen synthesis through Sertoli-Leydig cell interaction and is also involved in sex differentiation. Biallelic DHH (MIM*605423) variants are an extremely rare cause of 46,XY gonadal dysgenesis (GD). Patients may present with abnormal genita...

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

A worldwide increase in pediatric thyroid cancers incidence over the years has been observed. Although pediatric thyroid cancers tend to have a more aggressive course compared to adults, the survival rate is better. In this study, we aimed to examine the demographic, clinical, pathological, and laboratory characteristics, prognostic and risk factors of children with thyroid cancer.Methods: We retrospectively analyzed 39 children with thy...

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...