hrp0095rfc8.4 | Diabetes and Insulin | ESPE2022

Developing a regional Southeast Asia diabetes healthcare professional network and webinars programme initiative during the pandemic

Sze May Ng , Lek Ngee , Sahakitrungruang Ngee , Pheng Chan Siew P , Yong Lai Mee , Yazid Jalaludin Muhammad , Thao Bui Muhammad , Nyi Nyi Soe , Ficheroulle Anne-Charlotte , Toomey Charles

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...

hrp0095p1-58 | Diabetes and Insulin | ESPE2022

Developing a digital Southeast Asia Type 1 diabetes healthcare educational platform in local languages during the pandemic

May Ng Sze , IV Malene , Khue Nguyen Thy , Le Khuong , Xian Lucas Lim Yang , Lek Ngee , Anuar Zaini Azriyanti , Seal Samantha , Yun Tange Steffen , Charlotte Ficheroulle Anne , Toomey Charles

Introduction: Action4Diabetes (A4D) is a non-profit UK organisation formed in 2016 that is making sustainable and scalable progress to provide quality Type 1 diabetes (T1D) healthcare in Southeast Asia (SEA). A4D provides comprehensive partnership programmes through a Memorandum of Understanding (MOU) signed with the governments in SEA that guarantees ongoing supplies of free insulin, blood glucose testing, HbA1c tests and hospital emergency funds in low-middl...

hrp0089s4.2 | Management of Late Effects of Cancer Therapy | ESPE2018

Hypogonadism in Girls after Cancer Therapy: Causes, Diagnosis, and Treatment

Sklar Charles

Hypogonadism, both primary and secondary, are well documented following cancer therapy. Primary ovarian insufficiency (POI) has most often been associated with exposure to alkylating agents (dose response) and radiation (RT) that includes the ovary (dose response). Early onset POI occurs commonly in girls exposed to ovarian RT at doses >10 Gy and following high-dose alkylating agents as is given for stem cell transplant. Late onset POI (ie, premature menopause) may be seen...

hrp0084wg5.1 | Paediatric and Adolescent Gynaecology | ESPE2015

Impact of Malignancies and Their Treatment on Reproductive Function in Girls

Sklar Charles A

Background: A 5-year survival rates for children/adolescents diagnosed with cancer are currently ~80%, with survival rates ~90% for those with acute leukaemia, the most common type of cancer in this population. It is estimated that there will be some 500 000 survivors of childhood cancer in the USA by the year 2020. These impressive survival rates are due, in large part, to the use of multi-modality therapy (i.e., surgery, multiagent chemotherapy, and surgery) in a large propo...

hrp0095p1-451 | Diabetes and Insulin | ESPE2022

Maintaining insulin and medical supplies for disadvantaged people with Type 1 Diabetes in Southeast Asia during the COVID-19 pandemic

May Ng Sze , Toomey Nicholas , Manet Ban , Lin Kyaw Htun , Khambuapha, Khamtavanh , Martin Tyla , Ooi Fiona

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

hrp0089p3-p387 | Thyroid P3 | ESPE2018

Graves’ Disease, Methimazole and SLE-like Reaction:A Case Report

Yafi Michael , Pillai Chanthu , Cox Charles

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

hrp0095p1-590 | Thyroid | ESPE2022

Immunoglobulin Superfamily 1 (IGSF1) Deficiency: A Rare Cause of Isolated Congenital Hypothyroidism in Two Siblings

MacGloin Helen , Bhushan Arya Ved , Schoenmakers Nadia , Buchanan Charles

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

hrp0086p2-p706 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Managed with Fluid Restriction and Salt Supplementation

Amato Lisa A , Verge Charles F , Walker Jan L , Neville Kristen A

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

hrp0082p3-d1-670 | Bone | ESPE2014

Primary Hypomagnesaemia with Secondary Hypocalcaemia (HSH): an Uncommon Diagnosis for a 2 Month Old Afro-Caribbean Formula Fed Infant Presenting with Seizures

Ihe Chibuzor , Kalitsi Jennifer , Kapoor Ritika , Buchanan Charles

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

hrp0084p1-133 | Turner & Puberty | ESPE2015

Improved Determination of Total Serum Estrogenic Bioactivity: Characterisation of Oestrogenic Activity Modulators

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...