hrp0089p1-p043 | Diabetes & Insulin P1 | ESPE2018

The Effect of Social Burden on Paediatric Diabetes Outcomes

Sales-Luis Madalena , Smith Emma , Ajzensztejn Michal

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

hrp0084p2-167 | Adrenals | ESPE2015

Hyponatraemia Secondary to Exudative Eczema

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

hrp0084p3-768 | Diabetes | ESPE2015

The Missing Link in Neonatal Diabetes

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

hrp0089p2-p411 | Thyroid P2 | ESPE2018

Awareness of the Risks of Acquired Iodine Deficiency in Strict Vegan Diets

Brandt Agnieszka , Cheung Moira , Sakka Sophia , Ajzensztejn Michal , Hulse Tony

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

hrp0086p2-p964 | Thyroid P2 | ESPE2016

An Unusual Complication of Graves’ Disease

Adesokan Akintayo , Vigneswaran Trisha , Mathur Sujeev , Cheung Moira , Ajzensztejn Michal

Background: Atrioventricular (AV) conduction defects are rare but significant complications of hyperthyroidism. Beta-blockers and co-existent infection further increase the risk of such conduction abnormalities.Objective and hypotheses: We report the case of a 10-year old girl treated for tachycardia and hypertension associated with hyperthyroidism who developed symptomatic 2:1 heart block.Method: Our patient presented with a histo...

hrp0084p3-1134 | Puberty | ESPE2015

Paraphilic Compulsion Secondary to Dopamine Replacement Therapy and Successful Treatment with GnRH Analogues

Brewka Anna , Owen Tamsin , Lin Jean-Pierre , Ajzensztejn Michal

Background: Hypersexualized behaviour in the paediatric population is a rare phenomenon. The aetiology of paraphilia is not completely understood, but some studies suggest imbalance of the dopamine serotonin system. Paraphilia has also been described as a side-effect of treatment with monoaminooxidase inhibitors (MAOI) and dopamine agonists. Most of the currently used pharmacologic treatments of the paraphilias have serotonin and testosterone/dihydrotestosterone as their targe...

hrp0082p2-d3-618 | Turner Syndrome | ESPE2014

GH Deficiency as a Cause of Persistent Hypoglycaemia in a Child with Turner Mosaic and Kabuki Syndrome

Ajzensztejn Michal , Shah Pratik , Abid Noina , Hurst Jane , Morrogh Deborah , McKee Shane , Hussain Khalid

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

hrp0094p1-29 | Diabetes A | ESPE2021

Incidence and severity of new-onset paediatric Type 1 diabetes in the COVID-19 pandemic – a UK multicentre perspective

Ponmani Caroline , Sakka Sophia , Wickramarachchi Chandu , Redpath Yvette , Ajzensztejn Michal , Kanumakala Shankar , Hulse Tony ,

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

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...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...