ACTA ENDOCRINOLOGICA (BUC)

Aims. To provide growth references for school-aged children in western Romania, to compare them with other national and\r\ninternational growth charts and evaluate the prevalence of overweight and obesity.\r\nMethods. A total of 3731 children, aged 7-19 years, from Timis county, were examined by medical students, between\r\nFebruary 2010-June 2011. Growth references for height, weight, and body mass index (BMI) were constructed with LMS method and LMSChartMaker software. The Romanian 3rd, 50th and 95th percentile for height and BMI were compared with national and international growth references. The prevalence of overweight and obesity was determined with IOTF definition.\r\nResults. Crude and smoothed percentiles for weight, height and BMI were shown for this population. The comparison\r\nprovided data regarding the variation of growth models in different populations. Our results demonstrated a high prevalence of overweight (18.2%) and obesity (7.2%) in our\r\npopulation, higher in boys versus girls.\r\nConclusions. Our study constructed growth references for a Romanian population. The comparison with other growth references reflected the regional differences in growth\r\npatterns between populations.

Introduction. The Antley-Bixler syndrome (ABS) is an extremely rare syndrome characterized by congenital\r\ncraniosynostosis and radiohumeral synostosis. Many patients demonstrate defects in steroidogenesis and disturbances\r\nof sexual development.\r\nAim: To present the first documented case of a Romanian patient with ABS.\r\nMaterial and Methods. Alexandru, a 3 year old child, was referred to our department for elucidating a complex\r\nmalformative syndrome that consisted of ambiguous genitalia and skeletal anomalies. We performed a complete assessment that ranged from obtaining a detailed medical history to gene sequencing. The hospital?s Ethical Committy gave\r\nthe authors its approval for using the medical data concerning the case, after the parents signed an informed consent.\r\nResults. Medical history. We note 4 previous admissions to our hospital during which efforts were made to diagnose the\r\nchild?s disorder of sexual development. At 3 months Edwards syndrome was suspected, which was later infirmed. During the third and fourth admission (8 months, 10 months respectively) the suspicion of congenital adrenal hyperplasia (CAH) was raised and then confirmed (impaired steroidogenesis, 46 XX karyotype). The patient was lost to\r\nfollow-up since then, probably due to the parents? inability to cope with the implications of their child?s condition.