Turner’s syndrome associated with discoid lateral meniscus and Blount’s disease: a case report

Background Turner’s syndrome, discoid meniscus, and Blount’s disease have all been studied in isolation, but, to the best of our knowledge, there have been no studies reporting a patient with all three. Thus, the first case of Turner’s syndrome with discoid meniscus and Blount’s disease is presented. Case presentation A 5-year-old Japanese girl with a history of Turner’s syndrome and Blount’s disease complained of pain in her left knee. Magnetic resonance imaging showed a discoid lateral meniscus tear, and arthroscopic partial meniscectomy was performed, providing a good outcome. Conclusions In this report, some possible explanations regarding the concomitant presence of these three diseases are discussed. A possible explanation in this case is that the patient with Turner’s syndrome had a discoid lateral meniscus that might have been induced by some genetic factors associated with Turner’s syndrome, and then the discoid lateral meniscus might have been the mechanical stress that caused Blount’s disease.

Liver Abnormalities in Turner’s Syndrome – Effects of Estrogen Replacement Therapy

BackgroundTurner’s syndrome is one of the most frequently reported sex chromosomal abnormality, affecting approximately 40 in every 100,000 live female births. Due to insufficient estrogen production, induction of puberty and sexual development requires hormone replacement. The syndrome affects several organ systems with diverse clinical features (cardiovascular, reproductive, hepato-biliary). There is also an increased risk of developing immune-mediated inflammatory diseases (IMID). Hepatobiliary alterations embrace a broad spectrum of possible manifestations, from asymptomatic mild hypertransaminasemia to overt hepatitis and even cirrhosis. Although exogenous estrogen hormones might cause liver dysfunction, in Turner’s syndrome hormone replacement can even alleviate the derangement of laboratory values and might prove beneficial in preventing the progression of hepatic architectural alterations.FindingsWe report two patients, in whom cessation of estrogen replacement therapy lead to worsening of hepatic and cholestatic enzyme values. These changes were later alleviated by recommencing estrogen hormone administration. We aim to summarize the available literature on estrogen hormone replacement therapy in Turner’s syndrome. We also provide a brief overview on the role of estrogen hormones in the pathology associated with the syndrome. ConclusionsOur findings are confirming, that estrogen replacement therapy has beneficial effects on hepatic enzymes and liver related laboratory studies in Turner’s syndrome. Therefore it is recommended for physicians not to withdraw estrogen replacement, even with elevated concentrations of liver and cholestatic enzymes in Turner’s syndrome patients.

Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Background Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of individuals with neurodevelopmental disorders). Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic value. Results Turner’s syndrome-associated karyotypes were revealed in 111 (2.8%) of 4021 girls. Regular Turner’s syndrome-associated karyotypes were detected in 35 girls (0.9%). TSM was uncovered in 76 girls (1.9%). TSM manifested as mosaic aneuploidy (45,X/46,XX; 45,X/47,XXX/46,XX; 45,X/47,XXX) affected 47 girls (1.2%). Supernumerary marker chromosomes derived from chromosome X have been identified in 11 girls with TSM (0.3%). Isochromosomes iX(q) was found in 12 cases (0.3%); one case was non-mosaic. TSM associated with ring chromosomes was revealed in 5 girls (0.1%). Conclusion The present cohort study provides data on the involvement of TSM in neurodevelopmental disorders among females. Thus, TSM may be an element of pathogenic cascades in brain diseases (i.e. neurodegenerative and psychiatric disorders). Our data allowed us to propose a hypothesis concerning ontogenetic variability of TSM levels. Accordingly, it appears that molecular cytogenetic monitoring of TSM, which is a likely risk factor/biomarker for adult-onset multifactorial diseases, is required.