Endocrine Abstracts

Background: Non-type 1 diabetes mellitus (T1DM) and T2DM accounts for up to 4% of cases of paediatric diabetes. The most common form is maturity-onset diabetes of the young, however rarer forms exist.This case highlights a number of important points to be considered when investigating patients with ketoacidosis that is not typical of T1DM. An understanding of the ketogenic pathway and knowledge of differential diagnoses for ketoacidosis and their appropr...

Introduction: Iodine deficiency in Western countries is considered a historic disease. In 1924 up to 30% of school aged children in the UK had a goitre. The UK however remains one of the most iodine deplete countries in the world. Those following restricted diets are also at particular risk of iodine deficiency.Case Report: A nine year old female on a significantly restricted diet due to multiple food allergies presented with a goitre. Ultrasound scan co...

Introduction: Dyshormonogenesis accounts for approximately 10–15% of cases of congenital hypothyroidism. Although relatively uncommon, the presence of a neonatal goitre should raise suspicion of thyroid dyshormonogenesis. Advances in genomic sequencing have identified errors at all stages of the thyroid hormone synthesis pathway. We present a case of a fetal goitre with the infant subsequently being diagnosed with dyhormonogenesis secondary to two separate thyroglobulin g...

Introduction: Cushing’s disease (CD) is a very rare cause of obesity in children. Typical features seen in adults with CD may be absent and clinical investigations may not give a definitive diagnosis. We present a case of CD, highlighting the challenges of diagnosis and the dilemmas encountered in managing such patients.Case report: A ten-year-old girl was referred with a five-year history of weight gain. At presentation BMI was +3.66 SD and she had...

Introduction: Achieving an HbA1c of less than 48 mmol/mol minimises the risk of complications in children and young people with type one diabetes. Elective admissions to hospital are one option employed to improve glycaemic control in patients with an HbA1c above target. There is however limited evidence to support such admissions. We aimed to retrospectively compare glycaemic control between patients electively admitted to hospital to stabilise their dia...

Introduction: To maintain an average HbA1c of less than 48 mmol/mol requires good diabetes control throughout the year. School holidays take on average 13 weeks (25%) of the year in the UK, therefore good control in holidays as well as term-time is paramount. Little work has been done in this area but it has been suggested diabetes control may be worse during holidays. This study aimed to retrospectively compare diabetes control between term time and the school holidays.<p...

Background: Haploinsufficiency of the GATA3 gene located on chromosome 10p15, is well-recognised as the cause of hypoparathyroidism, sensorineural deafness and renal dysgenesis; the HDR syndrome. A number of abnormalities within the GATA3 gene have been identified, with varying phenotypic characteristics. GATA3 is associated with other abnormalities including, abnormalities of Mullerian structures, hypomagnesia, hemimegalenencephaly and diabetes mell...

Background: Paediatric diabetes is predominantly an outpatient based specialty, limiting the training opportunities available to paediatric trainees. At our centre, out of hours diabetes advice calls are managed by paediatric specialty trainees working on the middle grade rota, with 24 hour support from an oncall paediatric diabetes consultant. Feedback locally from families has highlighted the quality of out of hours advice as an area of concern. We aimed to assess the knowle...

Background: Limited data support concerns that corticosteroid use in pregnancy, for maternal health reasons, can suppress the neonatal Hypothalamic-Pituitary-Adrenal (HPA) axis. We sought to determine if neonates born to mothers on high-dose steroids are at risk of adrenal suppression.Methodology: Our tertiary neonatal unit guidance advises that babies born to mothers receiving ≥7.5 mg/day prednisolone for 28 consecutive days in the 3rd trimester u...

Background: Many premature infants experience significant early growth failure in the weeks following delivery. Subsequent catch-up growth has traditionally been assumed to have occurred by early childhood. Most studies have focused on cohorts defined by birth weight, for example, <1500 g resulting in disproportionate numbers of small for gestational age (SGA) infants as opposed to those small solely as a consequence of prematurity. Few studies have examined growth compare...