hrp0086rfc5.3 | Management of Disorders of Insulin Secretion | ESPE2016

Sexual Lifestyle among Young Adults with Type 1 Diabetes

Pinhas-Hamiel Orit , Tisch Efrat , Levek Noa , Ben-David Rachel Frumkin , Graf-Barel Chana , Yaron Mariana , Boyko Valentina , Lerner-Geva Liat

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

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

Trade-Off Between Olfactory Bulb and Eyeball Volume in Precocious Puberty

Karaoglan Murat , Colakoglu Er Hale , Aytaç Kaplan Emel , Keskin Mehmet

Context: Olfactory bulb (OB) and eyeball size change depending on age and puberty. There is well-established trade-off between sensory structures of brain such as eye and olfactory bulb.Objective: The aim of this study is to analyze the potential reciprocal changes between OB and eyeball volumes (EV) in girls with precocious puberty (PP), as a sign of early pubertal onset.Design: A...

hrp0092p1-353 | Fat, Metabolism and Obesity (2) | ESPE2019

Evaluation of Primary Hypertriglyceridemia Patients: Ethiology, Phenotype, Treatment

Kaplan Emel Hatun Aytaç , Kumru Burcu , Albayrak Hatice Mutlu , Keskin Mehmet , Karaoglan Murat

Introduction: Plasma triglyceride (TG) is formed by an exogenous pathway taken from food and by an endogenous pathway produced from the liver. Primer hypertriglyceridemia occurs by genetic reasons. Higher TG levels occurs in lipoprotein lipase (LPL), ApoC2, ApoA5 gene defects. Secondary hypertriglyceridemia is caused by obesity, insulin resistance, alcohol and some drugs. In that study, we evaluated 10 patients with primer hypertriglyceridemia regards to clini...

hrp0089p3-p020 | Adrenals and HPA Axis P3 | ESPE2018

A Neonatal Case with Familial Glucocorticoid Deficiency Type 1 Having Adrenal Crisis in Early Period

Keskin Mehmet , Koklu Esat , Kaplan Emel H Aytac , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

hrp0089p3-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Mother and Baby Diagnosed Noonan Syndrome with Dysmorphic Findings

Keskin Mehmet , Aytac Kaplan Emel H , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

hrp0094p2-254 | Growth hormone and IGFs | ESPE2021

Clinic, laboratory and prognostic findings of patients who are diagnosed by Kowarski syndrome (biologically inactive growth hormone)

Gokcehan Zevker Emine , Keskin Mehmet , Karaoglan Murat , Aytac Kaplan Emel H ,

Objective: The clinical, laboratory and prognostic findings of the patients diagnosed with Kowarski Syndrome (biologically inactive growth hormone) were evaluated between February 2009 and February 2019 in order to contribute to literature.Materals and Methods: 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 97 cases continued to work. 92 cases at least one year, 62 cases...

hrp0092p3-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Turner's Syndrome Mosaicism 45X/47XXX with Iron Deficiency Anemia due to Menometrorrhagia

Chul Shin Woo , Jeong Hwal Rim , Kwon Eun Byul

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

hrp0086p2-p797 | Pituitary and Neuroendocrinology P2 | ESPE2016

Report Two Cases of Dopa-Responsive Dystonia

Zhuannan Jiang , Liyang Liang , Zhe Meng , Lina Zhang , Lele Hou

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

hrp0082p2-d2-472 | Growth (1) | ESPE2014

Body Proportions Estimated by Photometry

Gerver Willem Jan , Brecheisen Ralph , Penders Bas , Straetemans Saartje

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

hrp0094p1-112 | Fat, Metabolism and Obesity B | ESPE2021

Evaluation of the BigO behavioral indicators in overweight and obese children and adolescents

Kassari Penio , Tragomalou Athanasia , Vourdoumpa Aikaterini , Koutaki Diamanto , Papadopoulou Marina , Manou Maria , Ioakeimidis Ioannis , Filis Konstantinos , Theodoropoulou Eleni , Lymperopoulos Giorgos , Ferri Daniel , Karavidopoulou Youla , Stefanopoulos Leandros , Sarafis Ioannis , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Obesity represents one of the most challenging public health problems of our century. According to the World Health Organization, there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate the BigO behavioral indicators in a pediatric population in Greece.Methodology: The study was c...