ESPE Abstracts

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

Background: Diabetes prevalence is increasing globally, and Azerbaijan is no exception. Poorly controlled diabetes is associated with increased long-term micro-vascular and macro-vascular complication risk, leading to an increased morbidity and mortality.Objective and hypotheses: The purpose of this study was to estimate incidence of diabetes mellitus (DM) among children aged 0–18 years and to assess growth, glycaemic control, complications, risk fa...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Optogenetics represents a powerful new approach to modulate the activity of excitable cells in the body. Based upon the ability of specific wavelengths of light to activate newly discovered and engineered opsin-based receptors, optogenetics can be used to control the activity of cells with very high temporal resolution. Opsin-based receptors, most often channelrhodopsin (ChR), need to be expressed selectively in the cell type under investigation. This is achieved by generating...

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

Embryos initially form undifferentiated gonads, reproductive tracts and external genitalia that will progressively acquire female or male characteristics. This fate decision is initiated in the undifferentiated gonads and depends on sex chromosomes and fine-tuned expression of complex networks of molecular pathways. Defects at different levels of this cascade of events can trigger a large spectrum of Disorders of sex development (DSDs), defined as “congenital conditions w...