ESPE Abstracts

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

Background: Hypothalamic obesity caused by childhood–onset craniopharyngioma results in long–term cardiovascular morbidity. Knowledge about clinical markers and risk factors for cardiovascular morbidity is scarce.Patients and Methods: A cross–sectional study on transthoracic echocardiographic parameters was performed to determine the associations with clinical and anthropometric parameters in 36 craniopharyngioma patients....

Introduction: Β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East Transfusion programs and chelation therapy have greatly extended the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload The hypothyroidism is one of the most commonly reported comp...

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There i...

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

Background: Congenital hyperinsulinism (CHI) is cause of severe hypoglycaemia. Octreotide (somatostatin analogue), given as four times daily s.c. injections or via a pump, is used as second line treatment in diazoxide unresponsive CHI patients.Objective and hypotheses: The aim of our study was to evaluate the use of a long acting somatostatin analogue (Lanreotide) in patients with CHI.Method: Diffuse CHI patients above three years ...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...