ESPE Abstracts

Background: MODY HNF1B variants are most frequently associated with extra-pancreatic manifestations like renal cysts [leading to renal cysts and diabetes (RCAD) syndrome], abnormalities of the uro-genital tract and hypomagnesemia, but may also cause MODY or renal structural disease in isolation, therefore cases of HNF1B MODY still remained largely undiagnosed. In Ukraine, there are currently three patients with MODY HNF1B de novo who...

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: Glucocorticoids play an important role in the developing fetus, the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity in this population would be helpful, especially in the preterm ...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: Celiac disease is an important association of type 1 diabetes with significant impact on growth and glycemic control. Identification of the disease in asymptomatic subjects highlights the need for celiac screening in type 1 diabetes. Disparity in screening guidelines suggests the need for exploration of time trend and predictors of the association.Objective: To estimate the time trend, prevalence and predicto...

Background: Aromatase deficiency has been associated with disordered sexual development in infancy and delayed puberty later. The condition responds to estradiol treatment with normalization of gonadotropin levels and pubertal development. We report a girl with a novel Aromatase mutation with persistently elevated gonadotropin levels despite adequate estrogen treatment.Case report: This thirteen and a half year old girl ...

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...