Endocrine Abstracts

Induction of puberty may be required in boys, if puberty is either delayed or arrested. Boys with delayed puberty are often significantly concerned about their physical immaturity, short stature and perceived difference in appearance from peers. The commonest cause of delayed puberty is constitutional delay of growth and puberty (CDGP), a relatively benign condition. However, hypergonadotrophic hypogonadism due to Klinefelter syndrome and hypogonadotrophic hypogonadism (HH) du...

Although congenital hypothyroidism is sporadic in the majority, recessive and X-linked inheritance can also occur in monogenic disorders. In familial cases, the finding of genetic variation could identify specific phenotypes and unravel thyroid pathobiology.We describe three siblings born to non-consanguineous parents. The index case, a boy, presented at 1 year of age with severe developmental delay, expressive aphasia and hypotonia. Thyroid function sho...

Background: Congenital hyperinsulinism (CHI) is one of the commonest causes of recurrent hypoglycaemia due to excess production of insulin in infancy and results in neurological impairment in a third to a half of patients. The treatment of CHI is often complex and complicated by side effects; the medium-term effects of such treatment are not known.Aim: To describe five year clinical outcomes in a cohort of infants with CHI.Methods:...

Background: Congenital Hyperinsulinism (CHI) is characterised by dysregulated and excess secretion of insulin leading to severe hypoglycaemia. Monitoring of glucose levels is essential in this condition as prolonged hypoglycaemia can cause life-threatening complications such as permanent neurological impairment. Interstitial glucose monitoring by continuous glucose monitoring (CGM) devices can identify nocturnal hypoglycaemia retrospectively through data analysis. Analysis can...

Background: Childhood obesity is a growing problem worldwide, with serious effects on child health. Obese children are at a higher risk of developing metabolic co-morbidities earlier in life (WHO, 2013). Manchester has worse than national average levels of obesity, with an estimated 14 000 obese children (PHE, 2014).Aims and methods: A retrospective case note analysis of 117 obese paediatric patients, seen in our service between March 2012 and 2014, was ...

Background: The diagnosis of growth hormone deficiency (GHD) is based on a combination of clinical suspicion supported by growth hormone stimulation testing. IGF-1 and IGFBP-3 are used as supportive markers. Reports over the last decade have examined the performance of IGF-I and IGFBP-3 in the diagnosis of GHD. It is important that each unit evaluates the utility of these markers in the assay used by their laboratory based on relevant normative data.Aim:...

Introduction: Ischaemic heart disease occurs seven times more frequently in women with Turner syndrome (TS) than the normal population. Adult TS subjects have raised serum cholesterol (Ch). In our service we measure Ch, apolipoprotein A1 (APA) and B (APB) annually in TS patients aged >5 years as APB:APA in childhood is a strong predictor of cardiovascular risk in adult life. Little is known about lipid profiles or the effects of GH or oestrogen (E2) in childhood...

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

Background: Seeing the doctor alone has been associated with a better outcome following transition to adult services.Methods: A simple questionnaire was designed for young people (YP) to enquire about being seen alone in paediatric endocrine clinics.Results: The questionnaire was administered to 72 YP young people (37 male) with long term endocrine conditions. The mean age was 15.5 (2.5). 10% of YP thought they should be offered th...

Background: The 3 day human chorionic gonadotrophin (HCG) test is commonly performed to investigate male undervirilisation. However, the utility of routine HCG testing for male undervirilisation in early childhood and correlation with pubertal progress is unclear.Aims: To review performance of the 3 day HCG test for diagnosis and outcomes.Methods: Standard 3 day HCG test data were analysed in 130 boys of age <3 years with under...