ESPE Abstracts

Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.<p ...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

Introduction: Prolactin (Prl) - secreting cells and growth hormone (GH) - secreting cells are derived from the common somatomammotropic cells. Prl secretion depends primarily on the inhibitory effects of dopamine and the stimulatory effects of TRH and estrogens. The effects of other factors, especially the stimulation of the adrenergic system, are not well recognized. It is known that presynaptic stimulation of the alpha2-adrenergic receptor results in suppres...

Mineralization defects and paradoxical mineralizing enthesopathies are hallmarks of X-linked Hypophosphatemia (XLH), a rare skeletal disease caused by inactivating mutations in the PHEX gene (Phosphate-regulating endopeptidase homolog, X-linked). The current medical treatment, which consist in oral phosphorus supplementation and active vitamin D analogues, aimed at counteracting consequences of FGF23 excess and is commonly prescribed from early childhood to the end of...

Background: 28 days old baby girl presented to ER with seizure like activity for the last two weeks, breast feeding well and thriving. Past history full term normal delivery, no neonatal complications and no maternal history apart from iron deficiency anemia. Case presentation summary: Examination unremarkable, vitals and sugar were stable intermittent jerky movements of the limbs with no stiffness. Investigations: calcium 7.4 mg/dL, Magnesuim (Mg) 0.52 mg/dL, phosphate 8.3 mg...

Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life th...

Background: The hypothalamic–pituitary–adrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....

Background: Insulin resistance occurs in a variety of common endocrine disorders including obesity, type 2 diabetes, polycystic ovarian syndrome, and metabolic syndrome. Additionally, rare syndromes exist that result in extreme insulin resistance. These conditions help contribute to our knowledge of the mechanisms of insulin signalling and resistance.Objective and hypotheses: We report a case of a 12 year old female presenting to endocrinology clinic for...