3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” This case report describes an unusual variant of Turner Syndrome in a 20-year-old female that required comprehensive medical and psychological care, including hormonal therapy that resolved symptoms like alopecia.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” This article discusses the importance of routine karyotyping in patients with congenital adrenal hyperplasia, as it may reveal the presence of Turner syndrome and recommends early diagnosis and treatment; it reports no new clinical results.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
1 citations
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October 2022 in “Curēus” This case report highlights the challenges in diagnosing simple-virilizing congenital adrenal hyperplasia, emphasizing the importance of early expert evaluation to prevent irreversible changes such as virilization.