ESPE Abstracts

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: Current guidelines recommend the priming with low-dose testosterone in prepubertal boys prior to growth hormone stimulation tests. To our knowledge, only few adverse events after low-dose testosterone have been described so far.Objective and hypotheses: To assess possible side effects of testosterone priming.Patients: We studied 188 prepubertal boys aged between 10 and 15 years (mean ± S.D.: 11.4&#17...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Background: Silent corticotroph adenomas are adenomas composed of corticotrophs but are different from corticotroph adenomas. Despite being silent, they show more aggressive behavior than other clinically nonfunctional adenomas. Adrenocortical choristomas in silent corticotroph adenomas (i.e. the presence of adrenocortical cells in the heterotopic location of the sella) were reported in three patients 16 years or older until now.Objective: Here we report...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...