ESPE Abstracts

Introduction: Klinefelter syndrome (KS) occurs in approximately 1 in 650 males, representing the most common sex chromosome disorder. However, it is estimated that only 25% of KS patients are ever diagnosed, and 90% of them are not identified until 15 years of age. The disease is caused by congenital aneuploidy of the sex chromosomes; the most usual karyotype being 47, XXY. Typical phenotype includes tall stature, hypergonadotropic hypogonadism, small ...

Treatment with Recombinant Human GH (rhGH) has been of significant value in promoting quality of life in children with GH deficiency. However, it has been associated with several side-effects in the literature, including hypothyroidism, usually transient during the replacement therapy. The aim of this study was to evaluate the side effects of hGH replacement therapy, among children who were followed up at the Pediatric Endocrinology Outpatients Unit of our hospital during the ...

Background: GH treatment aims to normalise growth, increasing growth velocity, thus helping patients achieve an adult height in the normal range for the general population and for their familial genetic potential.Objectives: To evaluate the efficacy of early replacement therapy with recombinant GH (rGH) in Caucasian pre-pubertal children treated for GH deficiency.Methods: Our study included 64 boys and 49 girls, diagnosed with part...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...