• 제목/요약/키워드: Turner's syndrome

검색결과 17건 처리시간 0.022초

원발성 무월경 환자에 이어서 세포유전학적 연구 (Cytogenetic Studies in 236 Patients with Primary Amenorrhea)

  • 양영호;김창규;최동일;조동제;황동훈;허갑범
    • Clinical and Experimental Reproductive Medicine
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    • 제13권2호
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    • pp.153-159
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    • 1986
  • The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.

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소아 및 성인 마제신 환자들의 임상적 특징과 비교 (Clinical Manifestations and Characteristics in Patients with Horseshoe Kidney)

  • 김유경;권남희;강동일;정우영
    • Childhood Kidney Diseases
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    • 제17권2호
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    • pp.73-78
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    • 2013
  • 목적: 마제신은 신장융합(renal fusion)을 가진 가장 흔한 신기형이다. 저자들은 단일병원에서 관찰된 마제신 환자들의 동반 질환을 포함한 임상적 특징을 조사하고자 하였다. 방법: 2000년 1월부터 2012년 12월까지 부산백병원에서 영상의학적 방법에 의해 마제신으로 진단된 환자 43명을 대상 (소아군 14례, 성인군 29례)으로 후향적으로 의무기록을 분석하였다. 또한 소아군과 성인군의 자료를 비교 분석하였다. 결과: 전체 환자의 진단당시의 평균 연령의 중간값은 34세이었고, 성별은 남자 17명 여자 26명 이었다. 소아군(<18세, 14명)의 평균연령은 $6.7{\pm}6.2$세, 남자가 5명이 있었다. 진단 시 혈뇨를 보인 1명을 제외한 대부분 동반 질환의 평가 도중 우연히 발견되었다. 동반된 질환으로는 터너증후군이 5례(36%)로 가장 많았고, 동반된 비뇨기계 기형으로는 2명(14.2%)에서 신우요관협착을 동반하였다. 신기능은 마지막 추적검사까지 모두 정상이었다. 성인군에서 진단된 29명의 진단 당시 연령 중간값은 48세이었고, 남자가 12명 여자 17명이 있었다. 진단 시 다른 질환의 평가 중 18명이 우연히 발견되었으며, 11명은 혈뇨 또는 결석으로 인한 복통 등이 있었다. 동반질환으로는 터너증후군이 5례로 가장 많았으며, 5명에서 신우요관협착이 동반되었고, 그 외 수신증, 과민성 방광 등을 동반하였다. 마지막 추적검사에서 6명(21%)에서 신기능감소(혈청Cr>1.5)가 관찰되었다. 결론: 마제신은 우연히 발견되는 경우가 대부분으로, 동반된 단일 질환으로는 터너증후군이 가장 많았다. 성인기로 이행 후 다양한 비뇨기과적 합병증의 위험이 높으므로 지속적인 추적 관찰이 필요하다.

Premarin검사를 이용한 무월경환자에서의 시상하부-뇌하수체의 기능평가 (Evaluation of the Hypothalamic-pituitary Function by Premarin Test for the Patients of Amenorrhea)

  • 이진우;나종구
    • Clinical and Experimental Reproductive Medicine
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    • 제11권2호
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    • pp.17-25
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    • 1984
  • Hypothalamic-pituitary function in patients of 6 selected groups of amenorrhea was evaluated by performing premarin test. Selected amenorrheic patients were divided into 6 groups of Turner's syndrome(5), adrenogenital syndrome(3), Sheehan's syndrome(4), moderate hyperprolactinemia(3), severe hyperprolactinemia(9) and functional oligoamenorrhea(9) the diagnoses of which were performed according to modified our own protocol for management of amenorrheic patients. As control 20 normally cycling women in mid follicular phase determined by their symptothermal charts during last 6 months designed by WHO were compared. The premarin test which is one of the tests evaluating the hypothalamic-pituitary function by the principle of negative and positive feed back effect's of estrogen was performed by injecting 20 mg of premarin in volus intravenously. The levels of serum LH before, 24, 48, 72, 96 and 120 hours after injection of premarin were measured by double antibody technique radioimmunoassay the reagents of which were supplied by WHO. The results were as follows: 1. Both negative and positive feed back effects by exogenous estrogen were well preserved even in the patients of gonadal dysgenesis although the baseline levels were much higher than normal. 2. In the patients of Sheehan's syndrome one could observe the minimal response of feed back effect in the case with minimal pituitary function. 3, Androgens in adrenogenital syndrome and prolactin in hyperprolactinemia may suppress mainly the positive feed back effect rather than the negative one. The suppressive effect can be abolished by proper treatments which can eliminate those suppressive hormones. 4. This premarin test may be beneficial for predicting the result of clomiphene in ovulation induction.

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말초혈액과 생식선에서 SRY유전자 양성을 보인 Swyer증후군 1례 (A Case of Swyer Syndrome Which showed a Positive SRY Gene in Peripheral Blood and Gonad)

  • 남윤성;이숙환;한정희;조성원;윤태기;이정노;차광열
    • Clinical and Experimental Reproductive Medicine
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    • 제26권2호
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    • pp.275-280
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    • 1999
  • Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the of the SRY (sex determining region of Y chromosome) gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Mullerian inhibiting subtance (MIS), then control the sexual differentiation of the developing fetus. SRY is a transcription factor; however, target genes for its action have yet to be identified, because the DNA recognition sequence for SRY is found in many genes. Therefore the study of intersex disorders is being used to identify other genes active in the pathway of sexual differentiation. Patients with 46,XY gonadal dysgenesis, or Swyer's syndrome, have streak gonads, normal stature, and a sexually infantile phenotype with Mullerian structures present. The inheritance is usually sporadic but can be autosomal dominant or X-linked recessive. Unlike 45,X patients, stigmata of Turner syndrome are rare. As many as 20 to 30% of patients are at risk for malignant gonadal tumor formation and should undergo gonadectomy soon after the diagnosis is made. We have experienced a case of Swyer syndrome which showed a positive SRY gene in peripheral blood and gonad. So we report this case with a brief review of literatures.

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성선 발육 부전 환자에 대한 임상 및 세포 유전학적 연구 (A Clinico-Horomonal and Cytogenetic Studies in Patients with Gonadal Dysgenesis)

  • 이영진;양영호;김대현;김영민
    • Clinical and Experimental Reproductive Medicine
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    • 제10권2호
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    • pp.25-37
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    • 1983
  • As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.

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Association of Lower Socioeconomic Status and SARS-CoV-2 Positivity in Los Angeles, California

  • Allan-Blitz, Lao-Tzu;Goldbeck, Cameron;Hertlein, Fred;Turner, Isaac;Klausner, Jeffrey D.
    • Journal of Preventive Medicine and Public Health
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    • 제54권3호
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    • pp.161-165
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    • 2021
  • Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spreads heterogeneously, disproportionately impacting poor and minority communities. The relationship between poverty and race is complex, with a diverse set of structural and systemic factors driving higher rates of poverty among minority populations. The factors that specifically contribute to the disproportionate rates of SARS-CoV-2 infection, however, are not clearly understood. Methods: We evaluated SARS-CoV-2 test results from community-based testing sites in Los Angeles, California, between June and December, 2020. We used tester zip code data to link those results with United States Census report data on average annual household income, rates of healthcare coverage, and employment status by zip code. Results: We analyzed 2 141 127 SARS-CoV-2 test results, of which 245 154 (11.4%) were positive. Multivariable modeling showed a higher likelihood of SARS-CoV-2 test positivity among Hispanic communities than among other races. We found an increased risk for SARS-CoV-2 positivity among individuals from zip codes with an average annual household income

난소 미분화배세포종에 대한 방사선치료 결과 (Treatment Result of Ovarian Dysgerminoma)

  • 신성수;박석원;신경환;하성환
    • Radiation Oncology Journal
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    • 제15권4호
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    • pp.379-385
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    • 1997
  • 목적 : 난소 미분화배세포종은 젊은 가임기 여성에 발생하며 방사선에 대한 감수성이 높아 복식자궁전적출술 및 난관난소절제술 후 방사선치료를 시행하는 것이 통상적인 치료 방법이었다. 항암화학요법을 본격적으로 사용하기 이전에 서울내학교병원에서 방사선치료를 받은 환자를 대상으로 친료 성적을 분석하였다. 대상 및 방법 : 1980년 8월에서 1991년 5월까지 서울대학교병원 치료방사선과에서 방사선치료를 받은 18명을 대상으로 후향적 분석을 시행하였는데, 16명의 환자는 수술 후 방사선치료를 받았고, 나머지 2명은 근치적 목적으로 방사선치료를 받았다. 수술 후 방사선치료를 받은 환자들의 추적기간은 51개월에서 178개월로 중앙값은 99개월이었다. 연령분포는 11세부터 42세로 중앙값은 22세이었다. 병기별 분포는 IA기 3명, IC기 8명, 11기 2명, 111기 3명이었다. 1명의 환자에서 Turner's syndrome이 동반되어 있었다. 방사선치료는 6 MV와 10 MV 선형가속기나 Co-60 원 격치료장치를 이용하였으며, 전 복부에 1950-2100cGy(중앙값=2000cGy)후 골반부에 1050-2520cGy를 추가하여 골반부에 총 3000-4500cGy(중앙값=3500cGy)를 조사하였다. 5명의 환자에 서는 대동맥임파절 부위에 900-1500cGy를 조사하였고, 대동맥 임파절 전이가 있었던 1명에서는 1620cGy후 전이 부위에 900cGy를 추가하여 총 4470cGy를 조사하였다. 대동맥 임파절 전이가 있었던 1명을 포함한 5명의 환자에서는 종격동 및 쇄골 상부에 2520cGy를 조사하였다. 절제가 불가능하여 방사선치료만 받은 2명의 환자는 111기 1명과 좌측 쇄골상 임파절 전이가 동반된 IV기 1명이었다. III기 환자에서는 전 복부에 2000cGy후 골반부에 2070cGy, 대동맥 임파절에 2450cGy를, IV기 환자에서는 전 복부에 2000cGy후 골반부 및 대동맥 임파절에 2400cGy, 종격동에 2520cGy 그리고 좌측 쇄골 상부에 3550cGy를 조사하였다. 결과 : 난관난소절제술 후 방사선치료를 시행 받은 환자의 5년 국소 치유율은 $100\%$이었으며 종격동 조사를 시행하지 않은 131기 환자 1명에서 종격동 전이가 발생하였으나 항암화학요법으로 치유되어, 전체 환자에서의 5턴 생존율은 $100\%$를 보였다. 방사선치료만 받은 2명의 환자는 각각 112, 155개월간 무병 생존하고 있다. 결론 : 난소 미분화배세포종에 있어서 난관난소절제술 후 방사선치료는 물론 수술이 불가능한 경우의 방사선치료의 완치율은 매우 높았다. 그러나, 방사선만 아니라 항암화학요법에 대한 감수성이 높고 치유율이 높으므로 난소의 기능을 보존할 필요가 있는 경우에는 항암화학요법을 시행하고 항암화학요법에 저항성이 있거나 치료 후에 재발된 경우에 방사선치료를 적용하는 것이 타당할 것이다.

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