ESPE Abstracts

Background: Fibroblast growth factor 21 (FGF-21) is a complex molecule involved in lipid and glucose metabolism. FGF-21 shares biochemical pathways and sites of action with thyroid hormones. Current data correlate FGF-21 levels to thyroid function. The aim of the present study was to investigate possible associations among FGF-21 levels, resting metabolic rate (RMR), lipidemic profile and L-thyroxin replacement therapy treatment in children and adolescents wit...

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...

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...

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...

Background: Childhood critical period for onset/continuity of obesity with development of significant clinical and metabolic changes, impairing health in adulthood. Metabolic syndrome on rise both in adult and pediatric obese Indian population. Development of impaired glucose tolerance and progress to insulin resistance and other metabolic alterations like hypertension, dyslipidemia, Non alcoholic fatty liver disease are important.Aim: Evaluate insulin r...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...