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갑상선기능저하증에 합병된 중증 전자간증과 심외막 삼출액으로 의한 심장탐폰을 동반한 임신 1예
구희주,최원석,이지영,손인숙,김수녕 건국대학교 의과학연구소 2001 건국의과학학술지 Vol.11 No.-
Hypothyroidism presenting during pregnancy is rare, probably due to the lower incidence of hypothyroidism during reproductive years. And hypothyroidism rarely complicates pregnancy because most hypothyroidism is accompanied by amenorrhea and anovulation. Risk of maternal complications of hypothyroidism including preeclampsia, placental abruption, anemia, postpartum hemorrhage, cardiac dysfunction are increased. Hypothyroidism accompanies pericardial effusion frequently. But the diagnosis of pericardial effusion is usually made incidentally by routine check-up because the patient rarely complains any symptoms of pericardial effusion. Moreover it is extremely rare that pericardial effusion makes the presenting sign of hypothyroidism. We experienced a case of preeclampsia with pericardial effusion in hypothyroid parturient that needed pericardial window operation with emergency cesarean section. So we present this case with a brief review.
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자궁경부암 검진시 비정상 자궁경부 세포진 검사(ASCUS,LSIL)에 따른 추적방법
구희주,김수녕,손인숙,이지영,윤병일 건국대학교 의과학연구소 2002 건국의과학학술지 Vol.12 No.-
The considerable false-negative rates associate with Pap smear and increasing number of minor cytological abnormalities have prompted gynecologists to look for an adjuvant test either to improve primary screening or to act as a triage for minor abnormalities. This study was conducted to determine the follow-up and triage method for ASCUS(atypical squamous cells of undetermined significance) and LSIL(low-grade squamous intraepithelial lesion) smears. A total of 2591 asymptomatic women who presented to the outpatient department of Obstetrics and Gynecology in KonKuk University Hospital between April 1, 1996 and March 30, 1999 were screened for CIN(cervical intraepithelial neoplasia) and invasive cervical cancer by Pap smear. Women whose cytologic screening showing ASCUS or LSIL were evaluated with HPV-DNA testing, cervicography, and colposcopy in 6 months interval. Initial Pap smear was normal in 2395(92.4%), ASCUS in 93(3.9%), and LSIL in 77(3.2%) women. HPV-DNA test was positive in 9(20.9%) of 43 women with Pap smears showing ASCUS, and in 13(40.6%) of 32 women with Pap smears showing LSIL. The positive rate of HPV-DNA test was higher in LSIL group than in ASCUS group, but there was no statistical significance. Women with ASCUS on Pap smear, their cervicographic finding was positive in 26 patients(28.0%), and colposcopic finding was CIN in 12 patients(12.9%). Clinicopathologic diagnosis was CIN in 12 patients(12.9%) and invasive cancer in 2 patients(2.2%). Women with LSIL on Pap smear, their cervicographic finding was positive in 65 patients(84.4%), colposcopic finding was CIN in 59 patients(76.6%), and their pathologic finding was dysplasia in 63 patients(81.8%). The positive rate of cervicography was higher than colposcopy in both ASCUS and LSIL group, but there was no statistically significant difference between two study. We followed up 122 of 170 patients with ASCUS and LSIL in initial Pap smear every 6 months with cytology, cervicography and colposcopy. In ASCUS group, 42(56.7%) were negative and 33(43.1%) were positive in second Pap smear, 59(78.7%) were negative and 16(21.3%) were positive in cervicography, 6(8.0%) were CIN in colposcopy. In LSIL group, 8(17.0%) were negative, 39(83.0%) were positive in second Pap smear, 10(21.3%) were negative and 37(78.7%) were positive in cervicography and 23(49.0%) were CIN in colposcopy. Among patients with ASCUS and LSIL in Pap smear, the positive rate of cervicography was higher than of colposcopy, but there was no statistically significant difference between two study. Cervicography and colposcopy can be used as an important intermediate triage technique for the evaluation of patients with Pap smears showing ASCUS or LSIL and follow-up every 6 months in patients whose Pap smear revealed ASCUS and LSIL may improve the diagnosis rate of CIN and prevent invasive cancer.
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한국의 조기난소부전 환자에서 Growth Differentiation factor-9 유전자의 변이 분석
구희주 ( Gu Hui Ju ),김영문 ( Kim Yeong Mun ),장동욱 ( Jang Dong Ug ),이지영 ( Lee Ji Yeong ),손인숙 ( Son In Sug ),김수녕 ( Kim Su Nyeong ),박기현 ( Park Gi Hyeon ),( Andrew R. Zinn ) 대한산부인과학회 2003 Obstetrics & Gynecology Science Vol.46 No.5
난소발달기전을 이해하는 임상적 모델이 조기난소부전이다. 조기난소부전증은 40세 이전에 무월경과 성선자극호르몬이 증가되는 임상증후군으로 빈도는 약 1% 정도이다. 아직 조기난소부전의 기전은 밝혀지지 않았고, 터너 증후군, 자가면역질환, 항암제나 방사선 치료 및 감염 등이 원인으로 알려져 있다. 조기난소부전과 관련된다고 알려진 많은 유전자 중에서 변이가 보고된 것을 FSH 수용체, LH 수용체, inhibin 유전자이고, 국내의 경우 조기난소부전화자에서 FSH 수용체의 유전자 변이에 관한 연구에서 돌연변이는 발견되지 않았고, 한국인 특이적인 다형성이 발견되었다고 보고된 바 있다. 목적 : 본 연구에서는 한국의 조기난소부전환자에서 난포의 발달에 중요한 역할을 한다고 알려진 GDF-9 유전자, BMP-15 유전자, 그리고 inhibin 유전자의 변이를 연구하여 한국 여성에서의 조기난소부전의 주된 원인을 알아보고자 하였다. 연구 방법 : 조기난소부전환자 86명과 대조군 36명 등 총 122명에서 GDF-9, BMP-15, Inhibin 유전자를 PCR 및 dHPLC 방법으로 분석하였다. dHPLC 결과 heteroduplex를 형성하여 비정상적인 peak를 보이는 경우 자동염기서열분석을 시행하였다. 결과 : 조기난소부전환자에서 확인된 GDF-9 유전자의 돌연변이는 Arg3Cys 돌연변이, Leu40Val 돌연변이, Asp57Tyr 돌연변이의 3종류로 모두 이형접합체 돌연변이였다. 세 가지 돌연변이 모두 아직 보고된 적이 없는 돌연변이로서 본 연구에서 처음으로 확인된 것이었다. Arg3Cys와 Leu40Val 이형접합체 돌연변이는 조기난소부전 환자에서만 발견되는 돌연변이로 질환의 원인이 되는 돌연변이였다. Asp57Tyr 이형접합체 돌연변이는 10명의 조기난소부전환자의 5명의 정상 대조군에서 발견되어 한국인에 흔한 다형성으로 추정되었고, 조기난소부전과 정상 대조군에서 통계적으로 유의한 차이가 없었다. 결론 : 본 연구의 결과 한국인 조기난소부전 환자에서 질환의 원인이 되는 GDF-9 유전자의 변이가 확인되었다. 그러나 질환의 원인이 되는 GDF-9 유전자의 돌연변이가 조기난소부전자의 2.3%에서 발견되어 조기난소부전의 주된 원인유전자는 아닌 것으로 사료된다. 따라서 그 밖의 다른 유전자의 변이가 조기난소부전의 원인 유전자로 고려되어야 하며, 추후에 조기난소부전의 가장 주된 원인 유전자를 밝히는 연구가 필요하다. 조기난소부전환자와 정상군에서 서구인과 동일한 염기서열을 보이는 것으로 보아 GDF-9 유전자를 인종간의 차이를 나타내지 않았고, 앞으로 단백질의 기능연구로 GDF-9 유전자의 이형접합 변이가 이들 수용체의 기능적 차이와 연관이 되는 지에 대한 규명이 이루어져야 할 것으로 사료된다. The clinical models for studying ovary-determining genes may be premature ovarian failure (POF). POF is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women under 40 years old. FSH receptor, LH receptor, inhibin, GDF-9 (growth differentiation factor-9), BMP-15 (bone morphogenetic protein-15), DIAPH2 (diaphanous gene) and XPNPEP2 (X-prolyl aminopeptidase) genes were proposed as a possible candidate gene, but until recently, only mutations in FSH receptor, LH receptor and inhibin genes have been identified in POF patients. Therefore mutation screening of another POF gene necessary to reveal the principal causative genes of POF. Objective : The present study was performed to analyze the mutation of GDF-9 gene in Korean patient with POF and to investigate whether mutation of these gene is a likely main cause of POF. Methods : Eighty-six women with POF were studied and thirty-six normal women were enrolled as control. Mutation screening of these genes were performed by denaturing HPLC and were confirmed by automatic sequencing. Results : Three different mutations of GDF-9 gene were identified in Korean women with POF ; Arg3Cys mutation on the patient, Leu40Val mutation in one patient, Asp57Tyr mutation in 10 patients and 6 normal controls. Arg3Cys mutation and Leu40Val mutation were likely cause of disease. Frequencies of polymorphism in Korean women. All mutations was a novel mutation found in the present study. Conclusion : POF was resulted by mutations of GDF-9 gene, but mutations of GDF-9 gene are not likely main causes of POF because of low frequency of mutations.
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