hrp0092p1-335 | Fat, Metabolism and Obesity (2) | ESPE2019

The Relationship Between Serum Neurotensin Levels and Metabolic Parameters and Eating Behavior in Obese Children

Tuncerler Gülten , Özyurt Gonca , Uzun Hamide , Çalan Özlem Gürsoy , Küme Tuncay , Dündar Bumin Nuri , Çatli Gönül

Introduction: Neurotensin is a 13 amino acid peptide with central and intestinal effects. It has been shown to decrease intestinal and gastric motility, increase the absorption of fat by regulating the release of pancreas and bile acid. In addition, it is reported that there is also an anorexigenic effect of the neurotensin released from the central nervous system. In the literature, conflicting results related to serum / plasma neurotensin levels were reporte...

hrp0092p3-263 | Thyroid | ESPE2019

Papillary Thyroid Cancer in Children: Single Center Results

Hatipoğlu Nihal , Direk Gül , Uzan Tatli Zeynep , Gül Şiraz Ülkü , Çiçek Dilek , Gök Ebru , Sarikaya Emre , Kendirci Mustafa , Kurtoğlu Selim

Introduction: Thyroid cancers are rare cancers in children and their incidence is 1.4% in pediatric malignancies. However, its frequency is increasing. While the incidence of prepubertal children is equal among girls boys, it increases with age in female patients. Radiotherapy, which is applied to the neck region, and hashimoto disease are the risk factors. The relationship between Hashimoto's disease and papillary thyroid cancer is thought to be assoc...

hrp0092p1-414 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Gonadal Insufficiency and Affecting Factors in Patients with Bone MarrowTransplantation(BMT) for Non-malignantIndications in Childhood or Adolescence

Er Eren , Aksoylar Serap , Mehdiyeva Humay , Özek Gülcihan , Özen Samim , Göksen Damla , Darcan Sükran

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

hrp0092p3-226 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Rare Cause of 46,XY Sexual Development Disorder: 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Manyas Hayrullah , Eroğlu Filibeli Berna , Ayranci İlkay , Saka Güvenç Merve , Nuri Dündar Bumin , Çatli Gönül

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

hrp0092p1-244 | Multisystem Endocrine Disorders | ESPE2019

Two Different Endocrine Cancer, One Disease; DICER-1 Mutation

Tatli Zeynep Uzan , Direk Gül , Özcan Alper , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

hrp0092lb-24 | Late Breaking Posters | ESPE2019

Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Pre-Pubertal and Pubertal Youth

Jin Binghan , Derraik José G B , Fu JunFen , Lin Hu , Yuan Jinna , Dong Guanping

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...

hrp0092p2-215 | Multisystem Endocrine Disorders | ESPE2019

Intestinal Ganglioneuromatosis as First Manifestation of Multiple Endocrine Neoplasia 2B in a Premature Girl

Leunbach Tina Lund , Madsen Mette , Nielsen Rasmus G , Hansen Dorthe , Mathiesen Jes S

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

hrp0092p3-3 | Adrenals and HPA Axis | ESPE2019

A 46, XX Patient with 21-OHD Diagnosed During the Etiologic Workup of Male Infertility

Buğrul Fuat , Yildirak Ekrem , Güran Tülay

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of the steroid biosynthesis. 21-hydroxylase deficiency (21-OHD) represents 90–95% of CAH patients and causes adrenal insufficiency and virilization. Although most patients are diagnosed in childhood, the diagnosis of some classical CAH cases are extremely delayed up to sixth and seventh decades of life. Herein, we report a 46, XX patient with 21-OHD diagnose...

hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

hrp0089fc15.1 | Growth and Syndromes | ESPE2018

The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology

Perchard Reena , Murray Philip G , Highton Georgina L , Whatmore Andrew J , Clayton Peter E

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW ( ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...