hrp0086p2-p147 | Bone & Mineral Metabolism P2 | ESPE2016

The Beneficial Effect of Cinacalcet on the Treatment of vitD Resistant Rickets

Akinci Aysehan , Dundar Ismaıl

Background: Patients with vitD resistant rickets (VDRR) due to vitD receptor (VDR) mutations have extreme rickets along with alopesia, severe hypocalcemia, hypophosfatemia secondary to hyperparathroidism and elevated 1,25(OH)2vitD. Although there is no standard therapy for this patients, long-term or intermittanat i.v. or high dose oral calcium suplementations are recommended to correct the hypocalcemia and secondary hyperparathyroidism. ...

hrp0084p3-1089 | Perinatal | ESPE2015

Cord Blood and Maternal Serum IGF1,2, IGFBP3 Levels in Overweight Pregnants

Akinci Aysehan , Celik Onder , Ozerol Ibrahim

Background: Obesity or excess weight gain in pregnancy period cause increased insulin secretion even if glucose screening test is normal. The growth promoting effect of insulin may release somatotropic hormones, such as IGF1,2 and its binding proteins are involved in the regulation of foetal growth.Objective and hypotheses: In this study, we determined the changes of intrauterine growth factors (IGF1,2, and IGFBP3) in pregnants gained over weight during ...

hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

Akinci Aysehan , Dundar Ismail , Camtosun Emine , Kayas Leman

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

hrp0086p1-p460 | Fat Metabolism and Obesity P1 | ESPE2016

The Association between Insulin Resistance and Lower Extremity Muscle Strength, Static and Dynamic Standing Balances in Obese Adolescents

Akinci Aysehan , Ersoy Yuksel , Dundar Ismaıl

Background: Obesity is characterized by insulin resistance of target tissues, such as skeletal muscle, adipose tissue and liver. Skeletal muscle tissue is responsible for approximately 75% of whole body insulin-stimulated glucose uptake. Previously, it has been shown that skeletal muscle strength is significantly associated with insulin resistance in type-2 diabetics and non-diabetics.Objective and hypotheses: To examine the relationship between insulin ...

hrp0082p2-d2-580 | Sex Development (1) | ESPE2014

The V89L Polymorphism in the SRD5A2 Gene in Cases with Undescended Testis

Yesilada Elif , Akinci Aysehan , Gulbay Gonca , Yuksel Sengul , Savaci Serap

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

hrp0082p3-d1-874 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive KATP Channel Mutations

Demirbilek Huseyin , Arya Ved Bhushan , Ozbek Mehmet Nuri , Akinci Aysehan , Dogan Murat , Demirel Fatma , Houghton Jayne , Kaba Sultan , Guzel Fatma , Baran Riza Taner , Unal Sema , Tekkes Selahattin , Flanagan Sarah E , Ellard Sian , Husssain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

hrp0084p1-112 | Puberty | ESPE2015

Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty: A Nationwide Cohort Study

Atay Zeynep , Yesilkaya Ediz , Erdeve Senay Savas , Akin Leyla , Eren Erdal , Doger Esra , Aycan Zehra , Abali Zehra Yavas , Akinci Aysehan , Siklar Zeynep , Ozen Samim , Kara Cengiz , Tayfun Meltem , Tutunculer Filiz , Karabulut Gulcan Seymen , Karaguzel Gulay , Saglam Halil , Bideci Aysun , Kurtoglu Selim , Bereket Abdullah , Turan Serap , Sari Erkan , Cetinkaya Semra , Guran Tulay

Background: Gonadotropin independent precocious puberty (GIPP) is caused by a heterogenous group of disorders. With the exception of congenital adrenal hyperplasia (CAH), disorders causing GIPP are uncommon, and there are no studies evaluating the etiologic distribution of GIPP in a large cohort.Objective and hypotheses: To find out the relative frequencies of each etiological group in patients with non-CAH GIPP and also to evaluate the clinical and labo...

hrp0084p2-580 | Thyroid | ESPE2015

The Diagnostic, Treatment and Follow-Up Features of Childhood Thyroid Malignancies – A Preliminary Report

Bideci Aysun , Yesilkaya Ediz , Berberoglu Merih , Siklar Zeynep , Darcan Sukran , Ozen Samim , Bas Serpil , Doger Esra , Eren Erdal , Turan Serap , Akinci Aysehan , Demirel Fatma , Simsek Enver , Cetinkaya Semra , Bircan Iffet , Aydin Murat , Bober Ece , Sari Erkan , Hatipoglu Nihal , Tayfun Meltem , Saglam Halil , Ozbek Mehmet Nuri , Yildirim Ruken , Dundar Bumin , Cayir Atilla , Alagoz Engin , Atas Erman

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...

hrp0084p3-1233 | Turner | ESPE2015

Growth Curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Bundak Ruveyde , Sari Erkan , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Mazicioglu Mumtaz M , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Simsek Enver , Cinaz Peyami , Group Turner Syndrome Study

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

hrp0084p3-1243 | Turner | ESPE2015

Anthropometric Findings from Birth to Adulthood in Turkish Girls with Turner Syndrome and Association with Karyotpye Distribution

Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ercan Oya , Study Group Turner Syndrome

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...