- A Case of Swyer Syndrome
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Soon Il Jung, Hee Soon Cho, Chae Hoon Lee, Kyung Dong Kim
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Yeungnam Univ J Med. 2007;24(2 Suppl):S665-670. Published online December 31, 2007
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DOI: https://doi.org/10.12701/yujm.2007.24.2S.S665
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 Abstract
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- 46,XY pure gonadal dysgenesis is a sex-reversal disorder, that is characterized by the presence of a female phenotype, with a normal to tall stature, primary amenorrhea and sexual infantilism. The internal genitalia are female with a uterus and vagina being present, however, there are bilateral dysgenetic gonads. In addition, neoplasia occurs in 20∼30% of patients who have gonadal dysgenesis and a Y chromosome. A 34 year old woman presented to our hospital with the chief complaint of primary amenorrhea. Physical examination revealed no secondary sexual characteristics and no somatic abnormality. Peripheral blood karyotype was 46,XY, and polymerase chain reaction (PCR) for the Sex determining Region Y (SRY) gene was positive. Sequencing analysis of the SRY gene revealed a single nucleotide polymorphism. A laparoscopic gonadectomy was performed to remove both gonads, and no tumor cells were observed. Estrogen replacement therapy was instituted.
- Acute Myeloid Leukemia with t(8;21)(q22;q22) (AML1/ETO) in a Patient with Marked Hypocellularity and Low Blasts Count.
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Sung Ho Chun, Hee Soon Cho, Chae Hoon Lee, Kyung Dong Kim, Min Kyoung Kim, Myung Soo Hyun, Soon Il Jung
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Yeungnam Univ J Med. 2007;24(1):85-90. Published online June 30, 2007
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DOI: https://doi.org/10.12701/yujm.2007.24.1.85
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Abstract
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- According to the World Health Organization (WHO) classification system, cases with t(8;21)(q22;q22) should be diagnosed as acute myeloid leukemia (AML) even with a blast count of less than 20 percent in blood or bone marrow. It is an uncommon manifestation, moreover hypocellularity is rarely observed in this subtype of leukemia. Here, we report a case of t(8;21) in a patient with marked hypocellularity of less than 5 percent and a blast count of less than 20 percent. This patient responded relatively well to chemotherapy. An allogeneic bone marrow transplantation was performed with good engraftment . This case suggests that hypocellular AML with a t(8;21) has as good a prognosis as hypercellular AML with t(8;21).
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Yeungnam University College of Medicine
