hrp0094fc5.6 | Sex Development and Gender Incongruence | ESPE2021

Investigation of The Molecular Genetic Causes Of Non-Syndromic Premature Ovarian Failure By Next Generation Sequence Analysis

Er Eren , Aşıkovalı Semih , Ozışık Hatice , Gokşen Damla , Onay Huseyin , Saygılı Fusun , Darcan Şukran , Ozen Samim ,

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

hrp0094p1-109 | Adrenal B | ESPE2021

Plasma steroid panel with liquid chromotography-mass spectrometry (LC/MS-MS) method: utilization in differential diagnosis of hyperandrogenism

Ucar Mert , Ata Aysun , Barutcuoğlu Burcu , Ak Guneş , Habif Sara , Parıldar Zuhal , Gokşen Damla , Darcan Şukran , Ege Samim Ozen ,

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

hrp0094p2-134 | Diabetes and insulin | ESPE2021

Does SARS-COV-2 outbreak increase diabetic ketoacidosis in new onset T1DM

Jalilova Arzu , Ata Gunay Demir Aysun , Işıklar Hafize , Atik Altınok Yasemin , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor for DKA and is responsible for more than 50% of cases.Aim: We evaluated the frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 (COVID-19) outbreak, in order to identify its indirect effects on DKA incide...

hrp0094p2-141 | Diabetes and insulin | ESPE2021

Glycated Hemoglobin Variability and Microvascular Complications in Patients with Type 1 Diabetes Mellitus

Er Eren , Ata Aysun , Evin Ferda , Atik Altınok Yasemin , Demir Gunay , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

hrp0095p1-300 | GH and IGFs | ESPE2022

Evaluation of the growth response of children with growth hormone deficiency according to peak growth hormone levels on provocative tests

Donbaloğlu Zeynep , Singin Berna , Acar Sezer , Bedel Aynur , Barsal Çetiner Ebru , Aydin Behram Bilge , Parlak Mesut , Tuhan Hale

Objective: We aimed to evaluate the relation between the peak growth hormone (GH) levels on provocative tests and response to recombinant human GH (rhGH) therapy in patients with GH deficiency (GHD).Methods: This was a cross-sectional, single-center, and retrospective study. A total of 518 patients who received rhGH therapy under the age of 16 in the Endocrinology Clinic of Akdeniz University Hospital between 1997 and 20...

hrp0095p1-332 | Growth and Syndromes | ESPE2022

Growth Hormone Therapy Experience in a Patient with Hypotonia Cystinuria Syndrome

Sarıkaya Emre , Berber Uğur , Gök Ebru , Kara Leyla , Gül Şiraz Ülkü , Hatipoğlu Nihal

Background: Hypotonia-Cystinuria Syndrome (HCS) is a rare autosomal recessive disease characterized by generalized hypotonia, nephrolithiasis, short stature, minor facial dysmorphism, hyperphagia, and rapid weight gain in late childhood. Microdeletion can be detected in part of the SLC3A1 and PREPL genes in these cases. Growth hormone deficiency is rarely seen in these patients and adequate growth can be achieved with growth hormone therapy.<p class="abste...

hrp0095p1-155 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of the influence of the gonadotropin-releasing hormone agonist therapy on growth and body mass index in girls with idiopathic central precocious puberty

Donbaloğlu Zeynep , Bedel Aynur , Barsal Çetiner Ebru , Singin Berna , Aydın Behram Bilge , Tuhan Hale , Parlak Mesut

Objective: We aimed to examine the auxological findings of the girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the Gonadotropin-releasing hormone analogs (GnRHa) treatment and to investigate the effect of related factors on the height gain of those patients.Methods: This study was designed as single-center, descriptive, cross-sectional retrospective study. A total of 43 patients who were di...

hrp0095p2-208 | Multisystem Endocrine Disorders | ESPE2022

Precocious puberty before and after the COVID-19 pandemic

Gök Ebru , Sarıkaya Emre , Kara Leyla , Berber Uğur , Gül Şiraz Ülkü , Hatipoğlu Nihal

Introduction: A novel coronavirus defined as coronavirus disease 2019 (COVID-19) was first detected in China at the end of 2019 and spread rapidly all over the world. As the covid 19 pandemic has led to changes in life all over the world, the prognosis of diseases have also been affected. This study presents how early puberty has been affected during the pandemic period.Method: A total of 210 subjects; 113 individuals (9...

hrp0092p2-169 | GH and IGFs | ESPE2019

Experience of Growth Hormone Therapy in Two Cases with Congenital Adrenal Hypoplasia

Suman Gök Ebru , Direk Gül , Uzan Tatli Zeynep , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

hrp0086p1-p249 | Diabetes P1 | ESPE2016

Autoimmune Limbic Encephalitis Associated with Type 1 Diabetes Mellitus

Kilinc Ugurlu Aylin , Doger Esra , Demet Akbas Emine , Akin Onur , Arhan Ebru , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

Background: Limbic encephalitis (LE) is a neurological disorder characterized with amnesia, seizures, personality changes. LE is usually considered as paraneoplastic disorder. Infections, paraneoplastic disorders and autoimmunity should be considered in LE etiology. Association of type 1 diabetes mellitus and LE is very rare. Here in we report a patient who was diagnosed with type 1 diabetes mellitus (T1DM) six months after LE occurrence.Case: A 17-year-...