Here we report the fourth case of dysgerminoma in a patient with the syndrome of gonadal dysgenesis and 45,X karyotype. Typical Turner's syndrome features were unusually associated with breast development, menarche and secondary amenorrhoea. Exaggerated basal and GnRH stimulated gonadotrophin and low oestradiol levels were typical of post-pubertal Turner's syndrome. Detailed (standard) chromosome and banding analysis excluded the presence of Y chromosome material. This case suggests that the presence of a Y chromosome is not necessary for abnormal differentiation of germ cells and the occurrence of a gonadoblastoma.
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http://dx.doi.org/10.1111/j.1365-2265.1988.tb03655.x | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Department of Women's and Children's Health, University of Liverpool, Liverpool, UK.
Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular function, and ambulatory blood pressure (BP). Biochemical indicators of cardiovascular risk were also measured.
View Article and Find Full Text PDFCureus
December 2024
Department of Occupational Therapy, Grand Valley State University, Grand Rapids, USA.
Parsonage-Turner syndrome (PTS) is a rare brachial plexus neuropathy with a sudden onset of upper extremity pain, weakness, and loss of range of motion (ROM). Studies on occupational therapy (OT) interventions are limited. The aim of this case report was to explore the OT experiences, interventions, and outcomes of a patient with PTS.
View Article and Find Full Text PDFJ Hand Surg Eur Vol
January 2025
Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, USA.
Parsonage-Turner Syndrome after COVID-19 infection or vaccination is rare. Motor, sensory deficits and neuropathic pain may result from inflammation and compression around the brachial plexus. Early surgical intervention in patients with significant motor deficits may result in improved outcomes.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.
View Article and Find Full Text PDFCells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
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