ESPE Abstracts

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

Background: The UK has the highest number of children and young people with type 1 diabetes mellitus in Europe, but the lowest number of children and young people attaining good diabetes control.Methods: In December 2012, our diabetes service established the use of an electronic diabetes information management system that was web-based (Twinkle.Net) and routine uploading of glucose meters and pumps (Diasend). The electronic management system Twinkle.Net ...

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

Human sex development relies on differentiation of the gonads, in which Sertoli and granulosa cells play a key role for men and women respectively. Many variations of sex development (VSD) are due to alteration of these two cell types. The study of the mechanisms underlying these conditions is crucial for optimal clinical management of VSDs, as for more than 50% [1] of all VSD patients, the molecular cause of their condition remains unknown. The collection of primary cells is ...

Background: Prevalence of being overweight or obese is increasing in type 1 diabetes mellitus (T1DM). The recent UK National Paediatric Diabetes Audit (NPDA) 2013/14 reported that 36.6% of 0–11 year old children and 43.9% of 12 years and older children are currently overweight or obese. Childhood obesity in T1DM predicts long-term risk of adult diabetes complications. Previous studies have shown significant positive correlation between HbA1c and total insulin requirement ...

Background: Treatment of precocious puberty with GnRH analogues is well established. But there are concerns about weight gain in patients on this treatment. There have been conflicting reports about the effect of GnRH analogues on weight.Objective and hypotheses: To assess the change in BMI in children treated with GnRH analogues within a UK Endocrine Service and to analyse the patient/parent experience of the treatment.Method: A r...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...