ESPE Abstracts

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

Background: Hyperglycaemic hyperosmolar state (HHS) is a life-threatening condition rarely seen in paediatrics. It is however becoming increasingly recognised with the growing incidence of childhood type 2 diabetes mellitus (T2DM).Objective and hypotheses: We present a child with Bardet–Biedel syndrome (BBS), with new-onset T2DM presenting in HHS, and discuss the dilemmas encountered in his management due to multiple co-morbidities, including renal ...

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

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: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...

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: PanEuropean(SIOP) trials of treatment for childhood brain cancers (medulloblastomas/PNET) showed a 5% survival advantage with ‘sandwich’ gonadotoxic chemotherapy (CT) over surgical excision, neuraxial radiation and tumour boost (RT) alone. But this was tempered by a reduced quality of survival at 7 years.Objective: To assess the long term prevalence of subfertility after CT with/without neuraxial radiation.<p class="a...

Background: Wolf–Hirschhorn syndrome (WHS) is caused by variably-sized deletion of chromosome 4 involving 4p16 whose typical craniofacial features are ‘Greek warrior helmet appearance’ of the nose, microcephaly and prominent grabella. Almost all patients show mental retardation and growth delay.Case presentation: We report on a patient carrying a 4p16 deletion and GH deficiency treated with recombinant human GH (rhGH). The patient is male,...

To support people with chronic diseases in labour, reïntegration or participation, the Dutch Centre of Chronic Illness and Work developed a certification programme for professional experienced based coaching for patient support organisations. This 8-month during programme combines professional aid and peer-support for a diversity of chronic diseases. Experience based coaching is innovative and can assist patients emotionally by supporting them with coping and accepting th...