Searchable abstracts of presentations at key conferences in endocrinology

ea0045p68 | Pituitary and growth | BSPED2016

Normal final height in late presenting girls with Turner Syndrome (TS)

Sakka Sophia , Shaw Nick , Kirk Jeremy

Introduction: The diagnosis of Turner Syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosisand treatment there remain patients with TS who present late with delayed puberty.Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypothesis: To assess the effect of late GH treatm...

ea0051p049 | Pituitary and growth | BSPED2017

Comparison of insulin tolerance test to arginine test for the diagnosis of growth hormone deficiency in children

Sakka Sophia , Casey Angela , Follows Rebecca , Dias Renuka

Background: Growth hormone (GH) stimulation testing is necessary for the diagnosis of growth hormone deficiency (GHD). Insulin tolerance test (ITT) has been considered the gold standard for evaluating GHD in adults. However, it carries a risk of rare but severe adverse effects secondary to hypoglycaemia and is therefore avoided in many centres. There is no consensus for the first test in children.Aim: Audit to compare ITT to Arginine test as a first line...

ea0066p14 | Bone | BSPED2019

A novel case report of severe hypercalcaemia occurring after four years on the ketogenic diet

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Hypercalcaemia has been previously described in association with ketogenic diet (KD), occurring within 12 months of starting KD. We present a case where severe hypercalcaemia occured after four years on KD.Case: A 5.5-year-old boy referred for hypercalcaemia in context of early sepsis and background of Dynamin-1 gene mutation causing infantile epileptic encephalopathy. He had been commenced on KD at 18 months of age for drug-resistant seizures. A Deep Br...

ea0058p018 | Gonadal | BSPED2018

XY-DSD due to haematological chimerism in twin pregnancy

Sakka Sophia , Arya Ved , Hall Richard , Holder Muriel

Introduction: Blood chimerism is the condition characterized by the presence of cells from at least 2 zygote lineages in only the lympho-hematopoietic system. It is very rare in humans and is most commonly seen in monozygotic monochorionic twins through placental anastomoses.Case report: A 12 years old young girl, one of dichorionic dizygotic twins, had a genetic test performed for paternity issues. CGH array showed 46XY genotype (90%) and another genoty...

ea0058p042 | Thyroid | BSPED2018

Impact of iodine deficiency on thyroid function in vegan siblings

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

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide. Incidence of iodine deficiency may be rising due to usage of vegan diet.Case presentation: We present siblings aged 2.5 years boy and 6 years old girl from family who are strict vegans. Both children have been on vegan diet since birth. Boy attended hospital urgently due to significant concerns about hypothyroidism. His TSH level 2 months before admission was 187...

ea0066p8 | Bone | BSPED2019

Clinical, functional and quality of life outcomes of Burosumab therapy in children with X-linked hypophosphoataemia: a real world, London experience

Sandy Jessica , Gilbey-Cross Robyn , Santos Rui , Sakka Sophia , Cocca Alessandra , Morris Mavali , Massey Jill , Cheung Moira

Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosuma...