hrp0086p1-p14 | Adrenal P1 | ESPE2016

A Unique Case of Dual Opposing Pathologies

Viseras Irene Fernandez , Giri Dinesh , Bockenhauer Detlef , Deshpande Charu , Achermann John , Taylor Norman , Rumsby Gill , Senniappan Senthil , Ajzensztejn Michal

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...

hrp0086p1-p475 | Fat Metabolism and Obesity P1 | ESPE2016

Reduction of Body Mass and Change in Body Composition of the Participants of the PoZdro! – Programme for Prevention of Diabetes and Civilisation Diseases by Medicover Foundation – Preliminary Results, after the First Year of Interventions

Magnuszewska Hanna , Anyszek Tomasz , Brzezinski Michal , Lech Monika , Soszynski Piotr , Walewski Jacek , Szarejko Kamila , Radziwill Marcin , Mysliwiec Malgorzata , Czupryniak Leszek

Background: Lifestyle interventions are basic tool to treat obesity in the youth. They prevent from civilisation diseases. Globally, there are many programmes including regular meetings with dieticians, exercise specialists, and others. Results are promising, although there’s no consensus regarding one model of recommended diet, exercise’s intensity and frequency of interventions.Objective and hypotheses: Assessment of preliminary results of &#...

hrp0086p2-p711 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Growth and Pubertal Patterns in Young Survivors of Childhood Acute Lymphoblastic Leukemia

Shalitin Shlomit , Elitzur Sarah , Yaniv Isaac , Stark Batia , Yackobovitz-Gavan Michal , Lebenthal Yael , Phillip Moshe , Huri-Shtrecher Revital

Background: Childhood acute lymphoblastic leukemia (ALL) survivors are at increased risk for endocrine late effects.Objective and hypotheses: To evaluate growth and pubertal patterns in patients diagnosed with childhood ALL and to identify risk factors for impaired growth and puberty.Method: Retrospective chart review with longitudinal assessment of anthropometric measurements and pubertal status of 183 childhood ALL survivors diag...

hrp0082p1-d2-36 | Bone | ESPE2014

Sun Protection Habits and Calcium Intake in Children with Malignancy

Levy-Shraga Yael , Pinhas-Hamiel Orit , Ben Ami Michal , Yeshayahu Yonatan , Temam Vered , Cohen Rinat , Modan-Moses Dalit

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

hrp0082p2-d2-337 | Diabetes (1) | ESPE2014

The Length of the Deletion in the Region 17q Contributes to the Individual Variability of the Phenotype of Patients with Renal Cysts and Diabetes Syndrome (RCAD, HNF1B-MODY)

Pruhova Stepanka , Dusatkova Petra , Malina Michal , Slamova Zuzana , Blahova Kveta , Kotalova Radana , Dusek Jiri , Lebl Jan , Seeman Tomas , Cinek Ondrej

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...

hrp0094p1-59 | Bone B | ESPE2021

Cartilage -specific knockout of SIRT1 significantly reduces bone quality and catch-up growth efficiency

Shtaif Biana , Bar-Maisels Meytal , Gabet Yankel , Hiram-Bab Sahar , Yackobovitch-Gavan Michal , Phillip Moshe , Gat-Yablonski Galia ,

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

hrp0094p2-201 | Fat, metabolism and obesity | ESPE2021

Weight status and body composition of children and adolescents during the COVID-19 pandemic

Brener Avivit , Azoulay Erez , Yackobovitch-Gavan Michal , Lopez Adar , Sheppes Tamar , Yaacov Hadar , Gilboa Inbar , Waksman Yarden , Lebenthal Yael ,

Background: The COVID-19 pandemic has tremendous effects on lifestyle that could potentially cause health-related problems. Therefore, extreme preventive measures were taken, including the closure of schools and after school activities. This dramatic alteration in daily routine could lead to adverse consequence of increasing obesity. In this study we aimed to investigate the change in weight status and body composition parameters of children and adolescents du...

hrp0095p1-277 | Fat, Metabolism and Obesity | ESPE2022

The effect of obesity and nutritional intervention on depression levels and cognitive functions in adolescent girls, a randomized-controlled interventional study

Yalin Ofri , Fisch-Shvalb Naama , Yackobovitch-Gavan Michal , Bello Rachel , Demol Eliaz Sharon , Phillip Moshe , Meyerovitch Joseph

Background: Over the last thirty years, the incidence of adolescent obesity has quadrupled. While the physical risks of adolescent obesity have been well researched, there has been little research on its impact on mental health status and cognitive abilities. In the present study, we intend to examine whether nutritional intervention and weight loss affect executive functions and levels of depression of adolescent girls with overweight/obesity (OW/OB).<p c...

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

Florsheim Natan , Naugolny Larisa , Renbaum Paul , Lobel Orit , Y. Gold Merav , Goldberg Michal , Levy-Lahad Ephrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...