ESPE Abstracts

Background: Noonan Syndrome (NS) is a genetic disorder mainly inherited in an autosomal dominant manner, which prevalence is estimated to range from 1:1,000 to 1:2,500 live births. Characteristic features of NS include short stature, distinctive craniofacial dysmorphisms (e.g., hypertelorism, low-set ears, broad and short neck), skeletal anomalies and cardiovascular defects. The genetic basis involves, most commonly, mutations in the PTPN11 gene, KRAS gene and...

Introduction: A condition that causes strong inhibition of growth hormone (GH) secretion is, among others, hyperglycemia; this phenomenon is used in the diagnosis of suspected GH excess by performing a GH inhibition test after oral administration of glucose (OGTT). In a healthy adult, it has been established that the nadir of GH concentration should not exceed 1 ng/ml (0.4 ng/ml in the case of sensitive tests). It is unclear whether the same standards should a...

Background: Growth hormone (GH) is a well-known factor affecting bone mineral density (BMD). Adults with GH-deficiency exhibit lower BMD, which improves with treatment. However, to date, little is known about the effects of GHD (growth hormone deficiency) on BMD as well as about BMD in idiopathic short stature (ISS) prepubertal children - who remain short, despite normal GH concentrations in stimulation testing.Aim: The ...

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglice...

Background: Combine pituitary hormone deficiency (CPHD) may be caused by many factors. One – them is PROP1 gene mutation, that causes maldevelopment of GH, TSH, LH, FSH prolactin but not ACTH, producing cells (CPHD–PROP1).Objective and hypotheses: The details of possible differences between phenotypes of CPHD–PROP1 and CPHD of other reasons (CPHD–nonPROP1) are not clear to date. The aim of the study...

Background: Prader–Willi syndrome (PWS) is a genetic disorder with hypothalamic–pituitary dysfunction, in which obesity, excess fat to lean body mass cause metabolic complications. For the purpose of these disorders normalization, PWS patients have been treated with recombinant human GH (rhGH). Long-term tolerance in PWS children treated with rhGH is not well known and the data are still required.Objective and hypotheses: To evaluate effects of...

Background: It was reported recently that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi Syndrome (PWS), presented in up to 60% of them, could be a potential cause of sudden death. Moreover it has been suggested that CAI could be aggravated by rhGH recombinant human growth hormone (rhGH) treatment.Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the p...

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar...