hrp0095p1-345 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels

Karakilic Ozturan Esin , Karaman Volkan , Yusuf Gelmez Metin , Yıldız Melek , Poyrazoğlu Sukran , Baş Firdevs , Oya Uyguner Zehra , Darendeliler Feyza

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

hrp0095p1-396 | Thyroid | ESPE2022

A rare cause of acquired von Willebrand factor deficiency: Primary hypothyroidism due to autoimmune thyroiditis

Dağdeviren Çakır Aydilek , Yıldız Yıldırmak Zeynep , Eren Simge , Mısırlı Özdemir Ebru , Özdemir Mustafa , Ucar Ahmet

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...

hrp0092fc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI)

Akin Leyla , Gregory Louise , Buonocore Federica , Group GOSgene , Kurtoglu Selim , Kendirci Mustafa , Burçin Gonen Z. , Lovell-Badge Robin , Rizzoti Karine , Dattani Mehul

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...

hrp0092p1-411 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Gender Decision in Disorders of Sex Development (DSD) Patients: 20 Years' Experience

Gürbüz Fatih , Alkan Murat , Celik Gonca , Bisgin Atil , Cekin Necmi , Kemal Topaloglu Ali , Zorludemir Unal , Avci Ayse , Yuksel Bilgin

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

hrp0086p2-p397 | Gonads &amp; DSD P2 | ESPE2016

A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

Alikasifoglu Ayfer , Buyukyilmaz Gonul , Nazli Gonc E. , Alev Ozon Z. , Kandemir Nurgun , Dundar Munis , Polat Seher , Pektas Emine , Dursun Ali , Sivri Serap , Tokatli Aysegul , Coskun Turgay

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

hrp0094p1-120 | Fat, Metabolism and Obesity B | ESPE2021

Monogenic obesity in children: focusing on SH2B1 deletion

Giannopoulou Eleni Z , Zorn Stefanie , Schirmer Melanie , Herrmann Gloria , Heger Sabine , Reinehr Thomas , Denzer Christian , Rabenstein Hannah , Schnurbein Julia von , Wabitsch Martin ,

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...

hrp0097p1-105 | GH and IGFs | ESPE2023

Effects of Growth Hormone Therapy on Glucose Metabolism in Children and Adolescents: 1-year follow-up results

Derya Kardelen Aslı , Kandemir Tuğçe , Demirel Özge , Tercan Ummahan , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza , Marja Ojaniemi

Introduction: It is thought that long-term growth hormone (GH) treatment may impair hepatic glucose production and insulin-dependent glucose utilization, and therefore it is attributed that GH may adversely affect glucose metabolism.Objective: In our study, we aimed to examine the effects of GH treatment on insulin sensitivity and glucose metabolism in patients with GH deficiency after 1-year of treatment.<p class="a...

hrp0097p1-126 | Growth and Syndromes | ESPE2023

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

Bayrak Demirel Özge , Karakılıç Özturan Esin , Derya Kardelen Al Aslı , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

hrp0097p2-240 | Diabetes and Insulin | ESPE2023

Fulminant Type 1 Diabetes Case With Positive Diabetes-Associated Antibodies

Hürmüzlü Közler Selen , Koçyiğit Esra , Sarı Ersöz Hilal , Gürpınar Gözde , Kilci Fatih , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Fulminant type 1 diabetes (FT1D) occurs because of a sudden and almost total destruction of pancreatic β-cells, triggered by a viral infection. FT1DM may cause diabetic ketoacidosis (DKA) and even sudden death. Thus prompt diagnosis is vital.Case Report: Antibiotic treatment was started for a 4-year-old female patient because of a fever and cough. On the second day of treatment, she was admitted with r...

hrp0098p2-10 | Adrenals and HPA Axis | ESPE2024

Early Diagnosis of Adrenoleukodystrophy in Two Siblings

Karagöz Kıymet , Şeyma Eken Emine , Sadiye Karadeniz Cansu , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...