Endocrine Abstracts

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...

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...

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...

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...

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...

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...