ESPE Abstracts

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in infancy caused by dysregulated insulin secretion. The management of severe hypoglycaemia often requires the administration of high dextrose-containing fluids through a central venous catheter (CVC). However, CVCs carry the risk of complications including thrombosis. We sought to determine the incidence of CVC-associated thrombosis in patients with CHI and examine associated risk factors...

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addison’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

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...

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Background: Current guidelines recommend the priming with low-dose testosterone in prepubertal boys prior to growth hormone stimulation tests. To our knowledge, only few adverse events after low-dose testosterone have been described so far.Objective and hypotheses: To assess possible side effects of testosterone priming.Patients: We studied 188 prepubertal boys aged between 10 and 15 years (mean ± S.D.: 11.4&#17...