hrp0092rfc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

CHD7 Mutations in Patients with Anosmic or Normosmic Idiopathic Hypogonadotropic Hypogonadism

Damla Kotan Leman , Anik Ahmet , Mengen Eda , Turan Ihsan , Akkus Gamze , Ozsu Elif , Bereket Abdullah , Nuri Ozbek Mehmet , Yuksel Bilgin , Kemal Topaloglu Ali

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

hrp0086fc12.4 | Neuroendocrinology | ESPE2016

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Kotan Leman Damla , Cooper Charlton , Darcan Sukran , Carr Ian , Ozen Samim , Yan Yi , Hamedani Mohammad K. , Gurbuz Fatih , Mengen Eda , Turan Ihsan , Ulubay Ayca , Akkus Gamze , Yuksel Bilgin , Leygue Etienne , Topaloglu Kemal

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

hrp0089p3-p093 | Diabetes & Insulin P3 | ESPE2018

Symptomatic Cerebral Infarction: A Rare Complication of Diabetic Ketoacidosis

Celmeli Gamze , Parlak Mesut , Akcurin Sema , Bircan Iffet

Diabetic ketoacidosis (DKA) is accompanied by intracerebral complications from 0.3% to 1%. Cerebrovascular events account for 10% of intracerebral complications. Our aim is to present a case of symptomatic cerebral infarction as a serious complication of DKA and draw attention to the management of DKA treatment. A 3.5-years-old male patient was referred to our department with DKA for further evaluation and treatment. Before coming to our center, insulin and sodium bicarbonate ...

hrp0086p2-p64 | Adrenal P2 | ESPE2016

Cushing Syndrome Due to Adrenal Adenoma in an Adolescent Patient and Successful Treatment with Laparoscopic Surgery

Hacihamdioglu Bulent , Ozgurhan Gamze , Guney Asuman , Haluk Guvenc Bekir

Cushing syndrome (CS) is a rare disease in children associated with weight gain and stunting of their linear growth. In older children, pituitary adenomas are a more common cause of CS. The clinical presentation of CS varies in children such as truncal obesity, striae, facial plethora, hypertension, and PKOS-like (polycystic ovary syndrome) feature. Here in we report an adolescent presented with obesity, short stature and late puberty but without metabolic syndrome or hirsutis...

hrp0086p2-p170 | Bone & Mineral Metabolism P2 | ESPE2016

Clinical and Genetic Analysis of Five Patients with Vitamin D-Dependent Rickets Type 1A

Hacıhamdioglu Bulent , Ozgurhan Gamze , Karakaya Zeynep , Keskin Ece

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

hrp0092p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Perinatal form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and two year follow-up under Enzyme Replacement Therapy; A case report

Hacihamdioglu Bulent , Ozgurhan Gamze , Pereira Catarina , Tepeli Emre , Acar Gulsen , Comert Serdar

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

hrp0086p1-p466 | Fat Metabolism and Obesity P1 | ESPE2016

Remarkable Increase in the Prevalence of Overweight and Obesity among School Age Children in Antalya, Turkey, between 2003 and 2015

Celmeli Gamze , Curek Yusuf , Arslan Zumrut , Yardimsever Mehmet , Koyun Mustafa , Akcurin Sema , Bircan Iffet

Background: The prevalence of childhood obesity is increasing all over the world and leading to an increase in obesity-related health problems such as adult obesity, cardiovascular diseases, type 2 diabetes and depression. There is no nationwide systematic study investigating obesity trends in Turkish children.Objective and hypotheses: The aim of this study is to determine the prevalence of overweight and obesity among school age children, to compare the...

hrp0082p1-d1-209 | Reproduction | ESPE2014

Evaluation of Sitting Height/Height SDS in Patients with Turner Syndrome

Genens Mikayir , Kaya Gamze , Ulak Ceren Melis , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Saka Nurcin , Darendeliler Feyza

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...

hrp0084p1-38 | Diabetes | ESPE2015

Metabolic Syndrome Frequency in Longitudinally Followed Children with Premature Adrenarche During Pubertal Ages

Kaya Gamze , Poyrazoglu Sukran , Erol Oguz Bulent , Saygili Seha , Sukur Mine , Bas Firdevs , Bundak Ruveyde , Darendeliler Feyza

Objective: To evaluate metabolic syndrome parameters in children with premature adrenarche (PA) during presentation in prepuberty and afterwards in puberty.Methods: 54 (48 femals, six males) patients (mean age 12.5±2.4 years) diagnosed with PA and followed until puberty were included in our study; as the control group 28(22 females, six males) (age, sex, puberty matched) healthy children (mean age 13.5±2.2 years) were taken. CAH was ruled out i...