hrp0097fc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

hrp0098p1-277 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

A rare cause of hypogonadotropic hypogonadism: KLB gene variant in a prepubertal boy evaluated for micropenis

Yavas Abali Zehra , Yesilyurt Ahmet , Demircioglu Serap , Guran Tulay , Haliloglu Belma , Bereket Abdullah

Background: Micropenis may have various causes, like hormonal imbalances during fetal development, disorders affecting hormone production/action, and genetic factors. Determining the etiology may be challenging, especially in isolated cases and a thorough medical evaluation is typically necessary. The identification of genetic etiology is facilitated by the wide use of next-generation sequencing technologies. Here we report a patient presented with micropenis ...

hrp0095p1-415 | Adrenals and HPA Axis | ESPE2022

Basal cortisol measurements in the prediction of low-dose ACTH stimulation test outcomes

Gacemer Hazal , Gurpinar Tosun Busra , Yavas Abali Zehra , Helvacioglu Didem , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0095p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Differences due to the variant type in the inheritance pattern of BMP15 gene-related primary ovarian insufficiency: a girl with a homozygous null BMP15 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Gurpinar Tosun Busra , Bereket Abdullah , Guran Tulay , Turan Serap

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

hrp0086p1-p218 | Diabetes P1 | ESPE2016

Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes

Yavas Abali Zehra , Bundak Ruveyde , Bas Firdevs , De Franco Elisa , Genens Mikayir , Poyrazoglu Sukran , Ellard Sian , Hattersley Andrew , Darendeliler Feyza

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

hrp0084p2-362 | Fat | ESPE2015

Nonalcoholic Fatty Liver Disease and Intestinal Inflammation in Obese Children

Abali Zehra Yavas , Saygili Seha , Ozden Tulin , Cantez Serdar , Bas Firdevs , Ertekin Vildan , Bundak Ruveyde , Durmaz Ozlem , Darendeliler Feyza

Background: The prevelance of pediatric obesity is increasing in childhood. Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity, insulin resistance (IR), diabetes, and hypertriglyceridemia. Gut microbiota was suggested to play a role in both etiology of NAFLD and also progression to steatohepatitis. Feacal calprotectin (FCP) is a noninvasive marker of intestinal inflammation.Objective and hypotheses: To evaluate FCP and its ass...

hrp0084p2-478 | Growth | ESPE2015

Comparison of the Turkish Growth Standards with the Who Standards

Abali Zehra Yavas , Bundak Ruveyde , Furman Andrezj , Gokcay Gulbin , Gunoz Hulya , Bas Firdevs , Darendeliler Feyza , Neyzi Olcay

Background: Growth standards are important tools in the monitoring of growth. In 2006 the World Health Organization (WHO) published new growth charts based on infants and young children living in optimal conditions in six countries and proposed that these and the NCHS data on North American children be accepted as standards for children in all countries throughout the world. Studies comparing country specific standards with WHO growth charts are therefore necessary.<p clas...

hrp0098p2-85 | Diabetes and Insulin | ESPE2024

Clinical Characteristics and follow-up of Type 2 Diabetes in Children and Adolescents: A Single Center Experience

Güneş Nazlı , Helvacıoglu Didem , Gurpinar Tosun Busra , Yavas Abali Zehra , Guran Tulay , Haliloglu Belma , Bereket Abdullah , Serap Turan

Aim: This study aims to investigate the presentation characteristics, follow-up, and treatment modalities in children and adolescents diagnosed with Type 2 Diabetes (T2D).Materials and Methods: This retrospective chart review includes 50 patients aged 4-20 years diagnosed with T2D between February 2013 and October 2023 according to American Diabetes Association (ADA) criteria in pediatric endocrinology clinic of a univer...

hrp0098p2-304 | Late Breaking | ESPE2024

Basal Ganglia Calcification in Children with Hypoparathyroidism and Pseudohypoparathyroidism: Characterization of Relationships and Clinical and Laboratory Findings

Gurpinar Tosun Busra , Kurt Ilknur , Helvacioglu Didem , Yavas Abali Zehra , Guran Tulay , Bereket Abdullah , Jüppner Harald , Turan Serap

Background: Hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) are conditions associated with basal ganglia calcification (BGC) which is thought to be caused by high serum calcium-phosphorus product and inadequate management of hypocalcemia. Novel mechanisms have recently been proposed for phosphate sensing and transport. However, the exact pathophysiology of BGC remains to be elucidated.Objective: To gain furthe...