ESPE Abstracts

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

Background: Promotion of high pick bone mass is one of the strategies to prevent osteoporosis in adult life. Undergraduate students are still in the age group of mineral acquisition and, therefore, their lifestyle may influence this process. Physical exercise is an important lifestyle characteristic for optimize peak bone mass (PBM).Objective: To evaluate bone mass in undergraduate students with different lifestyle.Methods: Observa...

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...