hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

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...

hrp0094p2-14 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal evolution of aldosterone synthase deficiency: Is complete remission possible?

Gurpinar Tosun Busra , Demirkol Yasemin Kendir , Menevse Tuba Seven , Kaygusuz Sare Betul , Ozbek Mehmet Nuri , Altincik Selda Ayca , Mammadova Jammala , Cayir Atilla , Doger Esra , Bayramoglu Elvan , Nalbantoglu Ozlem , Mutlu Gul Yesiltepe , Aghayev AghaRza , Turan Serap , Bereket Abdullah , Guran Tulay ,

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...

hrp0097p1-40 | Diabetes and Insulin | ESPE2023

Neopterin and tryptophan pathways in children with type 1 diabetes: isoxanthopteridine as a marker of endothelial dysfunction

Evliyaoğlu Olcay , Özer Yavuz , Kıykım Ertuğrul , Serif Cansever Mehmet , Turan Hande , Bayramoglu Elvan , Ceyhun Emre , İşat Esra , Zübarioğlu Tanyel , Cigdem Aktuglu Zeybek Ayse

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...

hrp0097p1-383 | Thyroid | ESPE2023

Clinical and molecular characteristics of 147 patients with primary congenital hypothyroidism: A single-center experience

Yavaş Abalı Zehra , Alavanda Ceren , Eltan Mehmet , Arslan Ateş Esra , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt İlknur , Keleştemur Elif , Guran Tulay , Bereket Abdullah , Turan Serap

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...

hrp0098p2-112 | Fat, Metabolism and Obesity | ESPE2024

Risk Factors for Obesity in Children with Hypothalamic Masses

Mete Kalaycı Fulya , Özalp Kızılay Deniz , Ataseven Eda , Kantar Mehmet , Özkızıltan Uluç , Bolat Elif , Gökşen Damla , Darcan Şükran , Özen Samim

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...

hrp0098p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Pubertal virilization in individuals with partial gonadal dysgenesis attributable to DHH mutation: a case report

Günay Aylin , Kurt İlknur , Ayaz Burcu , Karagözlü Akgül Ahsen , Ersoy Ayşenur , Bilge Geçkinli Bilgen , Yavaş Abalı Zehra , Nuri Özbek Mehmet , Güran Tülay

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...

hrp0095p1-494 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal growth pattern in (n=51) infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

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...

hrp0095p1-193 | Thyroid | ESPE2022

Diagnostic Features and Risk Factors for Childhood Thyroid Cancers

Sahin Pinar , Gurpinar Tosun Busra , Cemal Yumuşakhuylu Ali , Guran Tulay , Helvacioglu Didem , Yavas Abali Zehra , Haliloglu Belma , Oysu Cagatay , Bereket Abdullah , Turan Serap

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...

hrp0095p2-130 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal Growth in Infants of Diabetic Mothers (IDM) (n = 79) Who Were Born at or Near Term and Had Severe Neonatal Hypoglycemia Without Other Comorbidities.

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

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...

hrp0095p2-136 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Growth patterns in Infants with Significant Neonatal Hypoglycemia during the first two years of age: Comparison of infants of Diabetic Mothers (IDM) vs infants of non-diabetic mothers (INDM)

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

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...