ESPE Abstracts

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Insulin-like growth factor (IGF) 2 plays a fundamental role in prenatal growth and development. The IGF2 gene is imprinted, with the paternally inherited copy being active and the maternal copy being silenced in most tissues. During development, the expression of IGF2 is sexually dimorphic in some tissues and this is thought to be involved in the development of some sexually dimorphic features. For example, IGF2 expression is reported to be higher in the male brain co...

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...

Background: Nonsurgical development of nasal cerebrospinal fluid (CSF) leaks may occur in the setting of pituitary adenomas, especially following a favorable response of invasive prolactinomas to initiation of Dopamine Agonist (DA) therapy, but this has not previously described in children.Case description: A girl of Srilankan origin, aged 13.8 years, whose parents spoke no English, presented with headaches and secondary amenorrhea. Pituitary MRI reveale...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...