1.A Case of a 46,XX Male with SRY Gene.
Jeongyong MIN ; Dong Suk LEE ; Soo Kyung CHO ; Sohyun PARK ; Soomin LEE ; Minkyung BAEK ; Kichul KIM ; Doyeong HWANG
Journal of Genetic Medicine 2008;5(2):145-149
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.
Arm
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Azoospermia
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Constitution and Bylaws
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Cytogenetic Analysis
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Cytogenetics
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Fluorescence
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Genes, sry
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Gynecomastia
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Humans
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Hyalin
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Hypogonadism
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Incidence
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Infant, Newborn
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Karyotype
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Male
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Multiplex Polymerase Chain Reaction
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Phenotype
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Seminiferous Tubules
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Sex-Determining Region Y Protein
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Testis
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Y Chromosome
2.Oncologic Outcomes and Risk Factors for Recurrence after Tumor-specific Mesorectal Excision of Rectal Cancer: 782 Cases.
Sam Hee KIM ; Ki Beom BAE ; Jung Min KIM ; Jae Ho SHIN ; Min Sung AN ; Tae Geun HA ; Sung Mok RYU ; Kwang Hee KIM ; Tae Hyeon KIM ; Chang Soo CHOI ; Jin Yong SHIN ; Minkyung OH ; Seung Hun BAEK ; Kwan Hee HONG
Journal of the Korean Society of Coloproctology 2012;28(2):100-107
PURPOSE: The aim of this study was to analyze the oncologic outcomes and the risk factors for recurrence after a tumor-specific mesorectal excision (TSME) of resectable rectal cancer in a single institution. METHODS: A total of 782 patients who underwent a TSME for resectable rectal cancer between February 1995 and December 2005 were enrolled retrospectively. Oncologic outcomes included 5-year cancer-specific survival and its affecting factors, as well as risk factors for local and systemic recurrence. RESULTS: The 5-year cancer-specific survival rate was 77.53% with a mean follow-up period of 61 +/- 31 months. The overall local and systemic recurrence rates were 9.2% and 21.1%, respectively. The risk factors for local recurrence were pN stage (P = 0.015), positive distal resection margin, and positive circumferential resection margin (P < 0.001). The risk factors for systemic recurrence were pN stage (P < 0.001) and preoperative carcinoembryonic antigen level (P = 0.005). The prognostic factors for cancer-specific survival were pT stage (P < 0.001), pN stage (P < 0.001), positive distal resection margin (P = 0.005), and positive circumferential resection margin (P = 0.016). CONCLUSION: The oncologic outcomes in our institution after a TSME for patients with resectable rectal cancer were similar to those reported in other recent studies, and we established the risk factors that could be crucial for the planning of treatment and follow-up.
Carcinoembryonic Antigen
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Follow-Up Studies
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Humans
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Rectal Neoplasms
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Recurrence
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Retrospective Studies
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Risk Factors
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Survival Rate