hrp0089p3-p113 | Diabetes & Insulin P3 | ESPE2018

Fructosamine Level in Type 1 Diabetes Mellitus Children Performing Ramadhan Fasting

Faizi Muhammad , Rochmah Nur

Background: Ramadan fasting may influence metabolic control in Type 1 Diabetes Mellitus. Fructosamine is an accurate metabolic control in a short-term period. Comparison of fructosamine between intensive and conventional insulin regimen in T1DM children has not been widely studied.Objective: To compare fructosamine level between intensive and conventional insulin regimens during Ramadan Fasting in T1DM.Methods: Observational analyt...

hrp0089p3-p115 | Diabetes & Insulin P3 | ESPE2018

Association between Thyroid Stimulating Hormone and Hemoglobine A1c in Type 1 Diabetes Mellitus Children

Rochmah Nur , Faizi Muhammad

Background: Type 1 Diabetes Mellitus children are at risk to suffer from thyroid dysfunction. The association between thyroid stimulating hormone and hemoglobin A1c is still controversy.Objective: To determine the association between thyroid stimulating hormone and hemoglobin A1c in type 1 Diabetes Mellitus children.Methods: We conducted a cross sectional study from January - June 2017 in pediatric endocrine outpatient clinic dr So...

hrp0095rfc5.5 | Adrenals and HPA Axis | ESPE2022

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis

M McGlacken-Byrne Sinead , Abdelmaksoud Ashraf , Haini Mohammad , Palm Liina , Ashworth Michael , Li Juan , Wang Wei , Wang Xiumin , Wang Jian , Callaghan Bridget , A Kinsler Veronica , Faravelli Francesca , T Dattani Mehul

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

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...

hrp0094fc4.6 | Diabetes | ESPE2021

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort

McGlacken-Byrne Sinead M. , Mohammad Jasmina Kallefullah , Conlon Niamh , Gubaeva Diliara , Siersbaek Julie , Jorgen Schou Anders , Demibilek Huseyin , Dastamani Antonia , Houghton Jayne , Brusgaard Klaus , Melikyan Maria , Christesen Henrik , Flanagan Sarah E. , Murphy Nuala P. , Shah Pratik ,

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

hrp0086p1-p41 | Adrenal P1 | ESPE2016

RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions

Calanchini Matilde , Fabbri Andrea , Grossman Ashley , Jafar-Mohammadi Bahram

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...

hrp0086rfc13.6 | Management of Obesity | ESPE2016

Laparoscopic Sleeve Gastrectomy in Obese Adolescent Population

Elfawal Mohamad Hayssam , Safadi Bassem

Background: Obesity during childhood and adolescence can be accompanied by serious long-term adverse health and longevity outcomes. With increased use of bariatric surgery to treat obesity in these patients, diverse guidelines have been published, most of which exclude children aged younger than 14 years. Few reports describe laparoscopic sleeve gastrectomy in children and adolescents, delay in determining its safety and effectiveness and develop guidance regarding its use.</p...

hrp0084p1-92 | Growth | ESPE2015

Chronic Effects of Bisphenol A Administration on Growth Hormone Activity

AL-Masroori Mohammed , Hebais Mohammed , AL-Araimi Amnah , Zadjali Fahad

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...

hrp0089p3-p222 | Growth &amp; Syndromes P3 | ESPE2018

Development of an Online Learn-pro Module to Support Health Care Professionals Knowledge about Growth and Puberty

Wardhaugh Barbara , Shaikh Mohamad Guftat , Schulga John

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

hrp0086p2-p175 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Assessing the Serum Levels of Ferritin and Selenium in Three Important Infections of Childhood, Compared to a Control Group

Soheilipour Fahimeh , Noorbakhsh Samileh , Javadnia Shima , Jesmi Fatemeh , Pishgahroudsari Mohadeseh , Mohammadi Gholamreza

Background: Micronutrients play a fundamental role not only in general health, but also in treatment and protection of various diseases. Selenium and iron are two of the five major elements, aside from vitamins, detected as anti-oxidant agents, widely used with the aim of preventing diseases.Objective and hypotheses: The purpose of this study is to evaluate serum levels of selenium and ferritin in acute infections of childhood.Meth...