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...

hrp0082p1-d3-94 | Sex Development | ESPE2014

Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants

Fisher Benjamin G , Thankamony Ajay , Ong Ken K , Dunger David B , Hughes Ieuan A , Acerini Carlo L

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

hrp0094p2-230 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia

Vijayanand Sathyakala , Stevenson Paul G , Grant Maree , Choong Catherine S , Davis Elizabeth A , Abraham Mary B ,

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

hrp0092p1-241 | Multisystem Endocrine Disorders | ESPE2019

A Novel DCAF17 Homozygous Mutation in a Girl with Woodhouse-Sakati Syndrome and its Role in the Endocrine Glands

Kurnaz Erdal , Türkyilmaz Ayberk , Yarali Oguzhan , Demir Berrin , Çayir Atilla

Background: 46,XX gonadal dysgenesis is a rare condition linked to delayed puberty, absence of spontaneous pubertal development, and primary amenorrhea related to hypergonadotropic hypogonadism (Hh). External genitalia are typically female with no ambiguity. Although ovarian development is an active process with multiple gene involvement, the genetic etiology of this condition is usually unknown. DCAF17 has recently been implicated in the development ...

hrp0089p2-p149 | Fat, Metabolism and Obesity P2 | ESPE2018

Galanin is Positively Correlated with Insulin Resistance and Triglyceride Levels in Obese Children

Acar Sezer , Paketci Ahu , Kume Tuncay , Demir Korcan , Calan Ozlem Gursoy , Bober Ece , Abacı Ayhan

Introduction: Galanin is a neuropeptide involved in the regulation of food intake and glucose homeostasis. The objective of this study was to assess the relation of serum galanin levels with anthropometric and metabolic parameters in obese and healthy children.Material and methods: This cross-sectional study consisted of 38 obese children (mean age, 11.9±3.0 years) and 30 healthy children (mean age, 11.4±2.0 years). Clinical and biochemical [gl...

hrp0089p2-p376 | Thyroid P2 | ESPE2018

Long Term Monitoring of Graves Disease in Children and Adolescents: Single Center Experience

Tunc Selma , Koprulu Ozge , Ortac Hatice , Nalbantoğlu Ozlem , Dizdarer Ceyhun , Demir Korcan , Ozkan Behzat

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

hrp0086p1-p233 | Diabetes P1 | ESPE2016

Higher-Than-Conventional Subcutaneous Regular Insulin Doses Following Diabetic Ketoacidosis are Associated with Better Short-term Glycemic Control

Bag Ozlem , Tunc Selma , Nalbantoglu Ozlem , Ecevit Cigdem , Ozturk Aysel , Ozkan Behzat , Demir Korcan

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...

hrp0086p2-p392 | Gonads &amp; DSD P2 | ESPE2016

Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias

Acar Sezer , Tuhan Hale , Bora Elcin , Demir Korcan , Onay Huseyin , Ercal Derya , Bober Ece , Abaci Ayhan

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

hrp0082p2-d3-357 | Diabetes (2) | ESPE2014

Early-Onset Autoinflammatory Partial Lipodystrophy Characterized by Recurrent Fever and Rash: Candle Syndrome

Demir Korcan , Yildiz Melek , Makay Balahan , Korkmaz Huseyin Anil , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...