ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

Objectives: To investigate sensitivity, specificity and predictive values (PPV, NPP) of autoantibodies against 21-hydroxylase in APECED patients with and without adrenal insufficiency (AI) and in patients with other forms of AI.Methods: 42 patients with APECED and 24 patients with other forms of AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutations in AIRE gene and/or high levels of antibodie...

Background: Growth Hormone (GH) plays an important role in linear growth and in bone turnover during childhood. GH deficiency (GHD) may cause secondary osteoporosis associated to low bone mineral density (BMD), impairment of bone turnover and increased fracture rate. The effects of treatment with recombinant human Growth Hormone (rhGH) on bone metabolism are controversial. We aimed to assess BMD using dual energy x-ray absorptiometry (DEXA) among a cohort of children with GHD ...

Background: The risk of cardiovascular diseases is increased in girls with TS. The influence by combined GH and estrogen treatment on a condition of cardiovascular system is actively discussed.Objective and hypotheses: We performed this study to assess th effects of combined GH and estrogen treatment on lipid metabolism and systolic function of the left ventricle (LV) in girls with Turner syndrome without clinically relevant cardiac abnormalities.<p ...

Introduction: A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), can affect gonadal development of the offspring and have a potential impact on fertility. Epidemiological studies on subjects born small for gestational age (SGA), as a surrogate measure of IUGR, have reported contradictory results. Data derived from animal models of placental insufficiency are limited.Objective and hypotheses: To investig...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

Background: Type 1 insulin-like growth factor receptor (IGF-1R) is the product of a single-copy gene located on chromosome 15 and is ubiquitously expressed in humans. Increased hepatic IGF-1R gene expression is found in hepatocellular carcinoma and in chronic hepatitis C, making parenchymal and non-parenchymal cells more susceptible to the mitogenic effects of IGF-1.Objective and hypotheses: As we have previously demonstrated that IGF-1 and IGF-2 circula...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...