ESPE Abstracts

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...

Background: 49,XY gonadal dysgenesis (GD) is a very rare disorder of testes development with an incidence of 1:50–100 000. MAP3K1 is a MAPK that mainly regulates the MAPK pathways. High Map3k1 expression was found in female and male mice gonads at 13.5 dpc. In 2010, MAP3K1 mutations were identified in two families with complete and partial XY GD and in two unrelated sporadic cases with complete XY GD (Pearlman 2010 AJMG). Recently, four additional mutations (four out of 4...

Background: Adolescents with gender dysphoria (GD) are treated with gonadotropin-releasing hormone analogues (GnRHa) to prevent the development of characteristics of the undesired sex. Subsequently, sex steroids of the desired sex, cross sex hormones (CSH) are added. GnRHa treatment is generally considered to be safe in the treatment of precocious puberty in children. However, we observed that some adolescents with GD developed hypertension during GnRHa monotherapy (Klink D <e...

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...

Cancer treatment may result in development of long-term endocrine complications, including growth hormone (GH) deficiency.1 Although extensive and careful monitoring has been carried out to establish the safety profile of GH therapy,2 a relative scarcity of data means that questions persist around its use in survivors of childhood cancer. The effects of GH on growth and metabolism mean that there is a particular interest in whether GH therapy increases th...

Objective: Lifetime risk of having Type 1 Diabetes Mellitus [T1DM] increases when having a blood relative with T1DM. A Finish study reports 12.2% and 11.9% of T1DMs having a first degree relative [FDR] and second degree relative [SDR] with T1DM[1]. Data from India regarding proportion of children with T1DM FDR/SDR is non-existent. Objective is to find out the same.Methods: We examined the electronic database of 902 T1DM ...

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...