ESPE Abstracts

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

Background: Mauriac's syndrome (MS) may occur in patients with poor controlled type 1 diabetes mellitus (DM1), with often ketoacidosis, episodes of hyperglycemia and hypoglycemia, under the dose insulin. MS characterized growth retardation and puberty delay, Cushingoid obesity, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation, dyslipidemia. Now it is a rare syndrome, firstly described by Mauriac in 1930.<str...

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

Background: Prevalence of being overweight or obese is increasing in type 1 diabetes mellitus (T1DM). The recent UK National Paediatric Diabetes Audit (NPDA) 2013/14 reported that 36.6% of 0–11 year old children and 43.9% of 12 years and older children are currently overweight or obese. Childhood obesity in T1DM predicts long-term risk of adult diabetes complications. Previous studies have shown significant positive correlation between HbA1c and total insulin requirement ...

Recombinant human growth hormone (rhGH) is approved for short stature associated with growth hormone deficiency (GHD), idiopathic short stature (ISS), Turner syndrome (TS), multiple pituitary hormone deficiencies (MPHD), Silver Russell syndrome (SRS) and being born small for gestational age non syndromic (SGA). Objectives: To assess the clinical effectiveness and cost-effectiveness of rhGH in children with GHD, TS and those born SGA. Methods: ...

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...

Background: Congenital hyperinsulinism (CHI) is a heterogenous disorder characterized by hyperinsulinaemic hypoglycaemia, and may present in the neonatal period in severe forms of the disease. Molecular defects involving eight genes has been described so far. Herein we report a case of severe, diazoxide unresponsive CHI caused by two homozygous novel missense mutations in the KCNJ11 gene.Case report: An 8-day old girl was referred for hyperinsul...

Presentation of case: A 3-year-old boy with central precocious puberty as a result of the organic lesion of brain (hamartoma of hypotalamus). Complains.Increased height velocity, masculinization, fast growth of external genitalia, frequent erections, acne, low voice. Medical history. The baby was born with weight 3400 g. The age of the mother at birth of the child was 23 years. The breast feeding 6 months. In the age of 24 months boy started to grow very fastly. In the age of ...