hrp0092p1-330 | Diabetes and Insulin (2) | ESPE2019

Evaluation of Clinical, Laboratory and Therapeutic Features and Long Term Follow-up Results in 44 Cases with Genetic Diagnosis of MODY; Single Center Experience

Ozalkak Servan , Keskin Meliksah , Çetinkaya Semra , Erdeve Senay Savas , Bayramoglu Elvan , Aycan Zehra

Introduction-Aim: MODY;It is an autosomal dominant, rare type of diabetes that occurs in young people as a result of mutations of beta cell function and genes involved in insulin secretion. The cases may be misdiagnosed as Type1 and Type2 diabetes. Considering that MODY is clinically and genetically heterogeneous, the findings should be evaluated correctly. It is important to define the clinical-laboratory characteristics of diagnosis and follow-up of patients...

hrp0092p2-234 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Evaluation of Clinical Features and Treatment Responses of Cases with Hyperprolactinemia

Özalkak Servan , Bayramoglu Elvan , Savas Erdeve Senay , Çetinkaya Semra , Aycan Zehra

Aim: In this study, we planned to evaluate the patients with hyperprolactinemia etiology, clinical features and treatment responses.Material and Method: We evaluated retrospectively the features, clinical follow-up data and treatment responses of the patients with hyperprolactinemia in our pediatric endocrinology clinic between 01.01.2012-31.12.2018.Results: Thirty-one patients wit...

hrp0092p1-348 | Fat, Metabolism and Obesity (2) | ESPE2019

Evaluation of the Relationship Between Serum Uric Acid Level and Cardiometabolic Risk in Obese Children and Adolescents

Yilmaz Aslihan Arasli , Sahin Nursel Muratoglu , Bayramoglu Elvan , Özalkak Servan , Erdeve Senay Savas , Çetinkaya Semra , Aycan Zehra

Background: In adult studies, serum uric acid level (SUA) has been shown to be associated with cardiometabolic anomalies of metabolic syndrome such as insulin resistance, hypertension, increased carotid intima thickness, and hyperuricemia is considered as an independent risk factor for atherosclerosis and cardiovascular disease. Early cardiovascular changes in obese children and studies on the relationship between metabolic syndrome and hyperuricemia are quite...

hrp0089p1-p242 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

AMH Level of Infants with Premature Thelarche and Possible Relationship between AMH and Mini-puberty

Sahin Nursel Muratoglu , Bayramoglu Elvan , Ozcan Hatice Nursun , Kurnaz Erdal , Keskin Meliksah , Erdeve Senay Savas , Cetinkaya Semra , Aycan Zehra

Background/aims: AMH levels of mini puberty are higher than prepubertal period. In this study we investigated AMH levels in infants with premature thelarche who are presumed to have exaggerated mini puberty due to inadequate/late suppression of pubertal activation.Methods: Fifty five female infants between 3 months and 3 years of age with premature thelarche were enrolled in the study and 49 healthy girls in the same age group were included in the study....

hrp0086p2-p856 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Rare Cause of Short Stature: Patient with 3M Syndrome Revealed a New Mutation in Osbl1 Gene

Keskin Melikşah , Sahin Nursel Muratoglu , Kurnaz Erdal , Bayramoglu Elvan , Erdeve Senay Savas , Aycan Zehra , Cetinkaya Semra

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...

hrp0094p2-242 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Long-term follow-up in a case with congenital hyperinsulinemic hypoglycemia with a novel p.Ser1389Pro mutation in ABCC8 gene

Karacan Kucukali Gulin , Karacan Kucukali Gulin , Savas Erdeve Senay , Ozalkak Servan , Bayramoglu Elvan , Keskin Meliksah , Aycan Zehra , Cetinkaya Semra ,

Introduction: Hyperinsulinemic hypoglycemia is one of the most common causes of severe and persistent hypoglycemia in neonates and children. Early diagnosis and appropriate treatment prevent brain damage due to recurrent hypoglycemia. Genetic examination often can guide the treatment. The most common affected genes are the ABCC8 and KCNJ11 genes, which encode the SUR1 and Kir6.2 KATP channels, respectively. Here, a neonate with a novel variant in AB...

hrp0095p1-454 | Diabetes and Insulin | ESPE2022

Clinical and genetic evaluation of patients with maturity onset diabetes of the young (MODY) : Single center experience

Hande Turan , Bayramoglu Elvan , Gunes Kaya Didem , tarcin Gürkan , Bingöl Aydın Dilek , Ercan Oya , Evliyaoglu Olcay

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

hrp0092p1-160 | Adrenals and HPA Axis (1) | ESPE2019

Serum fetuin-A and insulin levels in classic congenital adrenal hyperplasia

Kurnaz Erdal , Çetinkaya Semra , Özalkak Servan , Bayramoglu Elvan , Demirci Gülsah , Öztürk Hasan Serdar , Erdeve Senay Savas , Aycan Zehra

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

hrp0086p2-p176 | Bone & Mineral Metabolism P2 | ESPE2016

A Case: Hydrocephalus Secondary to Suprasellar Arachnoid Cyst with Reset Osmostat and Isolated GH Deficiency

Kurnaz Erdal , Aycan Zehra , Akdemır Ozısık Pınar , Keskin Meliksah , Bayramoglu Elvan , Muratoglu Sahin Nursel , Savas Erdeve Senay , Cetinkaya Semra

Background: Hyponatremia is defined as a serum sodium level below 135 mEq/l. It is associated with increased morbidity and mortality. Hyponatremia has many causes and can be classified as acute/chronic or hypo/hypo/euvolemic. The main rule in fluid and electrolyte disorders (and especially in hyponatremia) is excluding hypothyroidism and hypocortisolism and then making the correct diagnosis. Hypothyroidism and hypocorticolism can also cause euvolemic chronic hyponatremia but t...

hrp0095p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Etiological analysis of hypophosphatemia: A single-center experience

Eltan Mehmet , Alavanda Ceren , Yavas Abali Zehra , Bayramoglu Elvan , Betul Kaygusuz Sare , Helvacioglu Didem , Gurpinar Tosun Busra , Seven Menevse Tuba , Ata Pinar , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....