ESPE Abstracts

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

Background: Tamoxifen is a selective estrogen receptor modulator，administrated in girls with precocious puberty such as McCune-Albright syndrome.Objective: To explore the effect of tamoxifen on the linear growth of precocious pubertal female rats.Method: At 16-22 day of age, 16 precocious pubertal female rats(induced by 300 μg danazol s.c. at 5-day old), were randomized...

Objective: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...

Background: There are international guidelines on screening for Microalbuminuria (MA) in children with Type1 Diabetes Mellitus (T1DM). But the National Paediatric Diabetic Audit, UK suggests that screening is missed in over 50% of cases. Further, there is little data on the management and natural course of MA in children by frontline units.Objective and hypotheses: To describe the prevalence, management and natural course of MA in children and adolescent...

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...