hrp0082p3-d3-806 | Gonads and Gynaecology | ESPE2014

A Rare Cause for 46,XX Ovarian Dysgenesis: Perrault Syndrome

Karaguzel Gulay , Okten Aysenur

Background: Perrault syndrome (PS) is a rare autosomal recessive condition characterized by sensorineural deafness and gonadal dysgenesis in females. The most commonly reported additional manifestations are neurologycal, including mental retardation, cerebellar hypoplasia, and neuropathy.Objective and hypotheses: Although sensorineural hearing impairment and ovarian dysgenesis are the cardinal signs of PS in females, PS is a genetically and clinically he...

hrp0086p1-p44 | Adrenal P1 | ESPE2016

An Infant with X-linked Adrenal Hypoplasia Congenita and Xp21 Contiguous Gene Deletion Syndrome

Karaguzel Gulay , Mutlu Mehmet , Cebi Alper , Sahin Sevim , Polat Recep

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

hrp0086p2-p314 | Diabetes P2 | ESPE2016

Vitamin D Levels and Relations with Clinical and Laboratory Findings in Children with Newly Diagnosed Type 1 Diabetes

Karaguzel Gulay , Colkusu Mustafa , Bulut Ebru , Turan Ozge , Demirci Irem

Background: Vitamin D deficiency (VDD) is common in the general pediatric population of the world. Some studies reported that low vitamin D levels with an increased risk of diabetes.Objective and hypotheses: VDD can be more common in children with type 1A diabetes (DM1A) than those with type 1B diabetes (DM1B). To evaluate 25OHD levels in children with newly diagnosed DM1A and DM1B patients and investigate any relation with clinical and laboratory data a...

hrp0082p1-d2-7 | Adrenals & HP Axis | ESPE2014

A Novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency

Okten Aysenur , Karaguzel Gulay , Toraman Bayram , Kalay Ersan , Dincer Tugba

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype┬ľphenotype correlation and population based origin of this novel mutation in CAH patients with 2...

hrp0082p1-d3-190 | Pituitary | ESPE2014

A Rare Cause of Diabetes Insipidus: Congenital Proprotein Convertase 1/3 Deficiency

Karaguzel Gulay , Cakir Murat , Akbulut Ulas , Janecke Andreas , Okten Aysenur

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

hrp0084p3-755 | Diabetes | ESPE2015

Severe Hypertriglyceridaemia in a Child with Severe Diabetic Ketoacidosis

Karaguzel Gulay , Polat Recep , Kaya Gulay , Yilmaz Semra Atasoy

Background: Severe hypertriglyceridemia (HTG) is a very rare complication of childhood diabetic ketoacidosis (DKA). The exact mecanism is unclear but transient insulin deficiency may cause a decrease in the activity of lipoprotein lipase. We report a case of girl with DKA and HTG.Case report: A 14-year-old girl, previously healthy and nonobese, presented with DKA following two months malaise, two weeks of polyuria and polydipsia. She was found to have DK...

hrp0084p3-1188 | Thyroid | ESPE2015

Intrathyroidal Ectopic Thymic Tissue Mimicking a Thyroid Nodule: A Report of Three Paediatric Cases

Karaguzel Gulay , Kaya Serpil , Eyupoglu Ilker , Turgutalp Havvanur , Okten Aysenur

Background: Intrathyroidal ectopic thymic tissue is one of the rarest congenital abnormalities. Ectopic thymus tissue can be detected in various locations from the mouth or the base of the skull to the superior mediasteneum. We report here three cases of intrathyroidal ectopic thymus tissue who presented as thyroid nodules in different ages.Cases: Case 1: a 10-year-old girl had a guatr and her thyroid function tests were normal. Thyroid US showed a hypoe...

hrp0094p2-76 | Bone, growth plate and mineral metabolism | ESPE2021

A rare cause of hypophosphatemic rickets; Non-lethal Raine syndrome

Karaguzel Gulay , Toraman Bayram , Dincer Tuba , Kayıpmaz Saadettin ,

Background: Raine syndrome (RS) also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive bone disorder. Most of patients with RS die within the first days or weeks of life due to pulmonary hypoplasia. The causative gene FAm20C is located on chromosome 7p22.3. FAm20C is one of the genes that regulate phosphate production. Here, we present a case of RS with hypophosphatemic rickets and a new mutation in FAm2</s...

hrp0089p2-p027 | Adrenals and HPA Axis P2 | ESPE2018

Reference Values for Serum 17-alfa Hydroxyprogesterone and Adrenal Size in Healthy Newborns

Karaguzel Gulay , Eyuboğlu İlker , Ozdem Sebahat , Kader Şebnem , Kaya Serpil , Beyhun Ercument

Background and aims: The interpretation of serum 17╬▒-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

hrp0089p3-p095 | Diabetes &amp; Insulin P3 | ESPE2018

The Relationship between Serum Levels of C-Peptide and the Age, BMI, and Insülin Doses in Reply to: Newly Diagnosed Type 1 Diabetic Children

Karaguzel Gulay , Usta Deniz , Tavaci Ayşegul , Taniş Mustafa , Beyhun Ercument

Background and aim: C-peptide is an important indicator of endogenous insulin release. Our aim was to investigate the association of serum C-peptide levels with age, BMI and insulin doses in newly diagnosed type 1 diabetic (DM1) children.Metods: The patients with newly diagnosed DM1 were enrolled the study and classified as DM1A and DM1B. Clinical and laboratory findings of all the patients were recorded. Daily insulin doses, BMI and its z score were cal...