ESPE Abstracts

Background: Idiopathic short stature (ISS) is defined as short stature of unknown origin. It is apparently not associated with GH deficiency (GHD). High-dose GH treatment is considered to be more beneficial in children with ISS than in those with GHD. However, responses to GH in children with ISS are highly variable and dose-dependent, and the optimal treatment is controversial.Aims: To compare the effects of low-dose GH treatment in children with GHD vs...

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Background: Evaluation of persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) requires accurate anatomic diagnosis for appropriate medical/surgical management. 18F-DOPA PET scan is used to localise the disease in pancreas, but is not available in many centres.Objective and hypotheses: We were highly restrained by the availability of investigations for evaluation of PHHI, especially 18F-DOPA. To localise the disease process,...

Background: Neonatal diabetes (ND) at first 6 months and its frequency is one in 500 000 newborns. There are some difficulties in its treatment, due to low demand and high sensitivity to insulin.Case presentation: We present the experience in insulin pump therapy treatment. A 13 days girl was taken to Regional Children’s Clinical Hospital in Krasnodar. It was the child from the1st pregnancy with toxicosis in the one st trimester, threat of terminati...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

Primary (premature) ovarian insufficiency (POI) is defined as a loss of ovarian activity before the age of 40, and is characterized by menstrual disturbances (amenorrhea or oligomenorrhea) with elevated gonadotropins (follicle-stimulating hormone [FSH] ≥ 25 IU/L) and low serum estradiol levels. The incidence of POI is around 1 per 100 women overall, and 1 per 1000 women under the age of 30 years. POI leads to infertility and an increased risk of osteoporosis and cardiova...