ESPE Abstracts

Background: 17a-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia (CAH). 46,XY infants may present with ambiguous genitalia. Adrenal crises are rare due to compensatory glucocorticoid action of the overproduced corticosterone.Case: A 3-month-old boy underwent a complication-free externalization of concealed penis and circumcision by a paediatric surgeon. At the age of 2.5 years, the boy...

Background: Sickle cell anemia (SCA) leads to chronic end organ damage including the thyroid gland. This is postulated to be due to recurrent hemolysis leading to iron overload, vaso-occlusive crises, micro-vasculature obstruction due to red cell entrapment and frequent transfusions. Some studies have demonstrated a relationship between hypothyroidism and SCA with a prevalence of 6% in children and adolescents. Hypothyroidism may affect brain and physical deve...

Background: Congenital hyperinsulinism (CHI) is a rare heterogeneous disease. Genetic testing is crucial as identifying the underlying aetiology can guide clinical management.Objective and hypotheses: We investigated the clinical characteristics and genetics of 20 Ukrainian patients with CHI.Methods: Routine clinical and laboratory investigations were performed on 20 patients with hypoglycemia and unsuppressed C-peptide and p-insul...

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

Background: Numerous studies have shown that PWS patients demonstrate the preservation of insulin sensitivity despite severe obesity. Data about insulin secretion in PWS however, are still conflicting. Other reports showed that PWS subjects and simple obese controls had similar insulin levels and were both insulin resistant. These discrepancies could be due to the different clinical characteristics of the study groups, including age, weight excess levels and the presence/absen...

Background: Wolcott–Rallison syndrome (WRS) which is characterized with permanent neonatal diabetes mellitus (PNDM), epiphyseal dysplasia, recurrent hepatitis and is caused by EIF2AK3 mutations.Objective and hypotheses: There is a possibility of a variant form of WRS, not caused by EIF2AK3 mutation.Method: Case 1: She was born at term from consanguineous parents. Family history was unremarkable. She had been ...

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine.Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI.Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testing was undertaken for seven patients with CHI from 9 families. KCNJ11, ABCC8, HNF4A genes were sequenced in all patients. For those...