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Exploring the Incidence of Testicular Neoplasms in the Transgender Population: A Case Series.
Arch Pathol Lab Med
November 2024
From the Departments of Urology, NYU Grossman School of Medicine, New York, New York(Zhao, Deng).
Context.—: The use of hormonal therapy and gender-affirming surgery in the transgender community has been rising during the last several years. Although it is generally safe, hormonal therapy's link to testicular cancer remains uncertain.
View Article and Find Full Text PDFIsochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.
Cureus
August 2024
Department of Internal Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Kattankulathur, IND.
Isochromosome mosaic Turner syndrome (IMTS) is a rare genetic variant of Turner syndrome (TS). The diagnosis of TS can be missed until adolescence or early adulthood in females with minimal symptoms. The clinical features of mosaic TS can be atypical and should be evaluated thoroughly to detect potential complications.
View Article and Find Full Text PDFTwo cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation.
Leuk Res Rep
July 2024
Department of Pediatrics, Ehime University Graduate School of Medicine, Japan.
AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoietic stem cell transplantation in two patients with AMeD syndrome and isochromosome 1q. AMeD syndrome with myelodysplastic syndrome or acute myeloblastic leukemia generally has a poor prognosis; however, early diagnosis may improve treatment response.
View Article and Find Full Text PDF[Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Central Laboratory, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222062, China.
Article Synopsis
- The study aims to investigate the link between structural chromosomal abnormalities and clinical symptoms in a 13-year-old girl with gonadal dysplasia, focusing on her primary amenorrhea and health conditions.
- Clinical evaluations revealed significant hormonal changes, small ovaries, and a specific chromosomal karyotype indicating abnormalities involving the X chromosome, which differ from her parents' normal karyotypes.
- Findings suggest that her unique chromosomal structure contributed to her reproductive system issues, resembling Turner syndrome, while physical growth (height) remained unaffected.
Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report.
Ann Med Surg (Lond)
July 2024
Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in TS.
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