hrp0084p3-981 | GH & IGF | ESPE2015

Current Practice in Diagnosis and Treatment of GH Deficiency in Childhood: A Survey from Turkey

Poyrazoglu Sukran , Akcay Teoman , Atabek Mehmet Emre , Bideci Aysun , Bircan Iffet , Bober Ece , Can Sule , Darcan Sukran , Ersoy Betul , Guven Ayla , Kara Cengiz , Keskin Mehmet , Kurtoglu Selim , Ozbek Mehmet Nuri , Ozgen Tolga , Siklar Zeynep , Simsek Enver , Turan Serap , Yuksel Bilgin , Darendeliler Feyza

Background: Diagnosis and treatment of GH deficiency(GHD) in children are different between countries, and even among centres in the same country.Objective and hypotheses: To evaluate current practices in diagnosis and treatment of GHD in the process of preparing the new consensus on GHD by Turkish Society for Pediatric Endocrinology and Diabetes.Method: A questionnaire was sent out to all paediatric endocrinology centres.<p cl...

hrp0084p3-1017 | Growth | ESPE2015

The Growth Characteristics of Patients with Noonan Syndrome, and First 2 Years Results of GH Treatment: A Nationwide Multicentre Study

Siklar Zeynep , Berberoglu Merih , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza , Bundak Ruveyde , Aycan Zehra , Erdeve Senay Savas , Cetinkaya Semra , Abali Saygin , Atay Zeynep , Turan Serap , Kara Cengiz , Yilmaz Gulay Can , Akyurek Nesibe , Abaci Ayhan , Sari Erkan , Yesilkaya Ediz , Bolu Semih , Korkmaz Huseyin Anil , Simsek Enver , Catli Gonul , Cayir Atilla , Evliyaglu Olcay , Isguven Sukriye Pinar

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

hrp0082p3-d3-802 | Gonads and Gynaecology | ESPE2014

The Effects of Rhythmical Massage Therapy and Heart Rate Variability-Biofeedback on Primary Dysmenorrhea a Qualitative Study

Boning Anna , Karutz Aurelia , Vagedes Jan , Berger Bettina , Martin David

Aim: This study investigated rhythmical massage therapy (RMT) and heart rate variability-biofeedback (HRV) to treat dysmenorrhea.Methods: As a part of a randomized controlled trial, 60 patients were allocated to one of the two intervention groups or the crossover control group. For the qualitative study, before and after the 3-month intervention, the women drew their pain into a body silhouette. With the aid of these drawings, half-structured interviews ...

hrp0086p2-p592 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene

Alghazir Nadia , Gadaffi Omalmir , Hadeed Ibtisam , Abusrewil Suliman , Doggah Milad , Guail Milad

Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...

hrp0092s8.2 | Autoimmunity: From Diagnosis to Treatment | ESPE2019

Monogenic Forms of Autoimmune Diabetes: Challenges and Opportunities

Flanagan Sarah

Monogenic autoimmune diabetes results from a single highly penetrant mutation that causes autoimmunity leading to destruction of the beta-cells. Identifying monogenic autoimmune diabetes can be a challenge; early-onset type 1 diabetes (T1D) can cluster with additional autoimmune diseases due to shared polygenic risk, particularly from the HLA DR3 and DR4 alleles, and islet and other organ specific autoantibodies are present in patients with both monogenic and polygenic aetiolo...

hrp0086wg4.4 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

“A Clinical and Genetic Approach to Diagnosis and Treatment of Fractures in Infancy”

Semler Oliver

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

hrp0082p3-d3-650 | Autoimmune Endocrine Disease | ESPE2014

Coexistence of Unusual and Distinctive İnitial Clinical Manifestations of Systemic Lupus Erythematosus (SLE): a Child Case Presentation and Evaluation of Polyglandular Autoimmune Syndrome in SLE

Karaoglan Murat , Keskin Mehmet , Ozturk Sibel , Kesin Ozlem

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

hrp0089s8.2 | Thyroid disorders | ESPE2018

Central Hypothyroidism – an Update

van Trotsenburg Paul

Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or ac...

hrp0082pl6 | Genetics of Obesity | ESPE2014

Making a Diagnosis in Severe Complex Obesity

Farooqi Sadaf

With the rising prevalence of childhood obesity, there has been an increase in the number of children presenting with severe obesity. Whilst only a relatively small proportion of severely obese children will have the classical features associated with the well-established genetic obesity syndromes such as Prader-Willi syndrome, there is increasing recognition that highly penetrant genetic disorders can frequently present as severe obesity alone without developmental delay, dys...

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...