ESPE Abstracts

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Introduction: Hypothyroidism without treatment usually leads to delayed puberty in pediatric patients, sometimes it may rarely lead Van Wyk Grumbach syndrome (VWGS) which is characterized by isosexual precocious puberty. Exact mechanism of VWSG is unknown. High thyroid stimulating hormone (TSH) levels may directly effect on follicular stimulating hormone (FSH) receptors and lead precocious puberty. Interestingly simple thyroid hormone replacement therapy resolves symptoms in t...

Introduction and Aim: The aim of this study was to investigate whether autoimmune Hashimoto’s thyroiditis (HT) increases the incidence of non-alcoholic fatty liver disease (NAFLD). In addition, the relationship between autoimmunity and the following factors was evaluated: Body Mass Index (BMI), body parameters measured by Bioelectric Impedance Analysis (BIA), and metabolic syndrome parameters.Methods: 43 newly diagnosed euthyroid girls with HT (14.4...

Background: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: We report on a girl referred for assessment of short stature (−4.6 SDS) at a chronological age of 7 yr 10 mo. The GH deficiency was confirmed by standard GH provocation tests, which revealed severely reduced GH and IGF-I concentration...

Background: The low-dose short Synacthen test is a popular diagnostic test of adrenal insufficiency in children. It is employed by 82% of UK paediatric endocrinologists. Although various dosing strategies exist, 1 μg is most commonly employed, however none of the low-dose forms are commercially available. A BSPED survey revealed 14 different methods for diluting 250 μg/ml ampoules.Objective and hypotheses: Do various dilution strategies result ...

Background: The genetic causes of primary hyperaldosteronism are still being discovered.Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle h...

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...