ESPE Abstracts

Background: The two most commonly known types of Diabetes Mellitus (DM) are DM type 1 and DM type 2, characterized by insulin deficiency and insulin insensitivity, respectively. DM can also be associated with rare mutlisystemic syndromes such as Alstrom, Bardet-Biedl, Wolfram and pigmentary hypertrichosis insulin dependent diabetes (PHID) syndromes.Objectives: To understand the genetic and molecular basis of syndromic DM in a large cohort of patients.</p...

Background: A common polymorphism in the growth hormone receptor gene (d3-GHR) was found to be associated with pre- and postnatal growth and GH-induced growth. D3-GHR was associated with glucose metabolism in adults with GHD and acromegaly, but this has not previously been explored in children.Objective and hypotheses: We examined the impact of the GHR-exon-3 deletion on glucose metabolism and anthropometrics in short SGA children before and following 1 ...

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and...

Background: Hypopituitarism, which is a heterogeneous disorder with diverse underlying etiologies, has been increasingly recognized following traumatic brain injury.Objective and hypotheses: In some patients, central fever associated with GH deficiency have been rarely reported. In this case report we presented a case with central fever associated with GH deficiency.Method: A 7-year-old boy, who was involved in a traffic accident, ...

Introduction: Central diabetes insipidus (CDI) is a condition in which large volumes of diluted urine are excreted due to vasopressin deficiency. In most patients, DI is caused by the destruction of neurons in the hypothalamus and the known causes include local inflammation or autoimmune aggression, vascular and infiltrative diseases, as well as compressive masses, trauma or midline cranial malformations. CDI caused by cytomegalovirus (CMV) infection is a very rare condition.<...

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

Patients and Methods: We analyzed 135 primary operated craniopharyngioma (CP) patients and 75 CP patients, received radiotherapy/radiosurgery in 2005-2012. Neurologic, endocrine, visual functions, quality of life (QofL) and neuroimaging data before and after treatment were assessed.Patients were divided in 2 groups according to CP location: 48,5% endosellar (ESCP), and 51,5% suprasellar (SSCP). Surgical treatment included tumor e...

Background: Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare syndrome with a high risk of morbidity and mortality. Blood glucose dysregulation is not widely recognised as a feature of ROHHAD and the mechanism is not well understood. We describe glucose dysregulation in two children with ROHHAD syndrome.Case 1: The patient presented at 6 years with rapid w...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...