hrp0095p1-355 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Serum Ghrelin and Neuropeptide Y Concentrations and Their Relationship with Gonadotropins and Anthropometric Parameters in Girls with Idiopathic CEntral Precocious Puberty, Premature Thelarche and Premature Adrenarche

İzel Bizbirlik Zeynep , Kilic Sümeyra , Angin Ahmet , ERSOY Betül

Orexigenic molecules such as ghrelin and neuropeptide Y (NPY) can contribute puberty as directly or indirectly. Our aim is to investigate the changes in the levels of orexigenic peptides ghrelin and neuropeptide Y at the onset of puberty in girls with idiopathic central precocious puberty (ICPP), premature thelarche (PT) and premature adrenarche (PA), and to determine their relationship with gonadotropins and anthropometric parameters.Subjects an...

hrp0092fc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Metabolically Unhealthy Obese Children and Adolescents Have Higher Bone Mineral Density Than Normal Weighted Controls but Lower than Metabolically Healthy Obeses: No Effect of FGF21 Levels

Akduman Filiz , Siklar Zeynep , Ozsu Elif , Doğan Ozlem , Kir Metin , Berberoglu Merih

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

hrp0092p1-208 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Transient Gonadal Activation and Infant Growth Velocity

Kilinç Suna , Hamilçikan Sahin , Atay Enver , Atay Zeynep

Background: Hypothalamic-pituitary-gonadal axis is activated during the first 6 months of life, called as mini-puberty in which reproductive hormone levels may reach to adult levels. Although, our understanding of the pathophysiology of sex steroids interaction with growth in puberty is increasing, very little is known about the relationship between sex steroids and growth at this period of life.Material and Methods: 142...

hrp0092p1-244 | Multisystem Endocrine Disorders | ESPE2019

Two Different Endocrine Cancer, One Disease; DICER-1 Mutation

Tatli Zeynep Uzan , Direk Gül , Özcan Alper , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

hrp0089p2-p057 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Cause of Short Stature

Betul Kaygusuz Sare , Atay Zeynep , Kirkgoz Tarik , Guran Tulay , Bereket Abdullah , Turan Serap

Objectives: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions with immune dysfunction and neurologic involvement which is caused by mutations in ACP5 gene encoding tartrate resistant acid phosphatase 5. Here, we report a three year old girl presented with primary hypothyroidism, developmental delay and thrombocytopenia and diagnosed as SPENCDI.<p class="abstext"...

hrp0089p2-p072 | Diabetes &amp; Insulin P2 | ESPE2018

Syndromic Patients with Negative Islet Autoantibodies should be Tested for Mongenic Diabetes: Lessons from Patient with Trmt10a Mutation

Siklar Zeynep , Colclough Kevin , Patel Kashyap A , Cetin Tuğba , Berberoğlu Merih

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

hrp0089p3-p237 | Growth &amp; Syndromes P3 | ESPE2018

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman Betul , Celegen Kubra , Korkmaz Emine , Lafci Naz Guleray , Balik Zeynep , Demirbilek Huseyin , Duzova Ali

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

hrp0089p2-p320 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Stalk Interruption Syndrome (PSIS) is Not a Rare Cause of the Congenital Hypopituitarism

Eren Erdal , Yazici Zeynep , Demirbas Ozgecan , Gulleroglu Nadide Basak , Tarım Omer

Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.<p class="ab...

hrp0089p3-p320 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Central Precocious Puberty Appeared in Infancy Period in a Patient of Sotos Syndrome

Cetin Tuğba , Ceylaner Serdar , Şıklar Zeynep , Berberoğlu Merih

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...