세침흡인 세포검사에서 양성 질환을 닮은 폐의 고분화 샘편평 암종 - 1예 보고 -

배종엽,오훈규,박재복,Bae, Jong-Yup,Oh, Hoon-Kyu,Park, Jae-Bok The Korean Society for Cytopathology 2004 대한세포병리학회지 Vol.15 No.2

Fine needle aspiration (FNA) cytological examination is an appropriate method for the evaluation of pulmonary nodules. In major types of lung cancer, Its diagnostic accuracy is quite high. However, it is sometimes difficult, using this technique, to differentiate between some unusual phenotypes including adenosquamous carcinoma, bronchioloalveolar carcinoma (BAC), neuroendocrine tumor, mucoepidermoid carcinoma, and sclerosing hemangioma. Here, we present a case involving extremely well differentiated adenosquamous carcinoma, mimicking benign lesions, such as pulmonary scar and adenomatoid malformation with squamous metaplasia. The patient was a 68-year-old man presenting with a solitary pulmonary nodule$(1.6\times1.6cm)$, which was incidentally found at the periphery of the right lower lobe. FNA revealed some clusters of glandular cells with minimal atypia, in addition to squamous cells at a nearly full maturational state. Histological examination verified the cytological diagnosis on a lobectomy specimen. The tumor exhibited a well differentiated adenocarcinoma component, mimicking the bronchioles in scarred lung tissue. and a well differentiated squamous cell carcinoma component, mimucking the squamous cell nests of adenoacanthoma, in the other organs. In the present case, the possibility of adenosquamous carcinoma should have been considered if squamous cells were seen in the FNA from the peripheral pulmonary nodule, even though they appeared to be benign.

척추의 단발성 형질세포종을 가진 환자에서 발생한 난소와 유방의 형질세포종의 세포학적 소견 - 1예 보고 -

박미옥,오훈규,김용진,박재복,Park, Mi-Ok,Oh, Hoon-Kyu,Kim, Yong-Jin,Park, Jae-Bok 대한세포병리학회 1997 대한세포병리학회지 Vol.8 No.2

A case of plasmacytoma of the ovary and breast, which developed in a patient with a solitary plasmacytoma in the lumbar vertebra for nine months, was diagnosed cytologically and histologically. Enlargement of the right ovary and multiple palpable masses in the right and left breast were already present at six months after the diagnosis of vertebral solitary plasmacytoma. At eight months, plasma cell leukemia developed, and nine months the enlarged both ovaries, replaced by yellowish-gray solid tumors showed infiltration of immature plasma cells. The cytologic features of the ovarian tumors were same with those of the breast tumor. The tumor cells were of predominantly immature plasma cells with one or more nuclei. Some mature plasma cell had an eccentric nucleus with single nucleolus and peripherally clumped chromatin. Binucleated or multinucleated giant cells were often present. Histologically, sheets of poorly differentiated plasmacytoid tumor cells were separated by strands of hyaline fibrous tissue. On immunohistochemical stains, the tumor cells showed strong reactivity for lambda-light chain but no reaction for kappa-light chain, cytokeratin, or leukocyte common antigen.

호산구 증가증을 동반한 거대세포바이러스 감염 소아 Menetrier병 1례

최원정,이보영,이희정,오훈규,황진복,Choi, Won Joung,Lee, Bo Young,Lee, Hee Jung,Oh, Hoon Kyu,Hwang, Jin Bok 대한소아소화기영양학회 2004 Pediatric gastroenterology, hepatology & nutrition Vol.7 No.1

저자들은 복통과 구토에 동반된 전신 부종을 주소로 내원하여 저알부민혈증과 말초혈액 호산구증가증의 임상 소견으로 단백 소실성 위장증을 동반한 호산구성 위장관염으로 의심되었으나, 내시경검사 소견, 조직 소견, 방사선 소견과 저절로 좋아지는 일과성 임상 경과 등을 종합하여 말초혈액의 호산구 증가증과 조직 내에서 호산구의 심한 침윤을 보인 CMV 감염 소아 Menetrier병 1례를 보고하고자 한다. CMV 감염과 관련된 소아 Menetrier병의 특징적인 임상 증상과 소견을 염두에 두어야 하며, 향후 CMV 감염과 말초 혈액 호산구증가증과 조직내 호산구 침윤의 관련성에 대하여 임상적 해석이 필요하리라 판단된다. Herein, the case of a 5-year-old boy with cytomegalovirus-induced Menetrier's disease, with peripheral eosinophilia, presenting with abdominal pain and vomiting, followed by generalized edema, is reported. The initial laboratory findings, hypoalbuminemia and peripheral eosinophilia were noted, with no evidence of renal, hepatic, cardiac or allergic diseases. Gastrofiberscopy was performed under the suspicion of eosinophilic gastroenteritis with protein losing gastropathy. The gastrofiberscopy showed the characteristic features of giant hypertrophy of the gastric rugae, with large quantities of adherent gelatinous material on the gastric fundus and body. The histological findings revealed foveolar hyperplasia, compatible with Menetrier's disease, with massive eosinophilic infiltrations. The presence of cytomegalovirus infection was identified by serology and confirmed by urine PCR. His symptoms, gastrofiberscopic findings and peripheral eosinophilia resolved spontaneously, and he has remained well for 10 months.

새로운 분류법에 따른 소아 위장관 우유 알레르기 질환에 관한 임상적 고찰

황진복,최선윤,권태찬,오훈규,감신,Hwang, Jin Bok,Choi, Seon Yun,Kwon, Tae Chan,Oh, Hoon Kyu,Kam, Sin 대한소아소화기영양학회 2004 Pediatric gastroenterology, hepatology & nutrition Vol.7 No.1

목 적: 효율적인 진단과 치료 및 적절한 의학적 교류를 목적으로 소아 위장관 알레르기 질환의 새로운 분류법이 발표되었다(J Pediatr Gastroenterol Nutr 2000;30:S87-94). 그러나 명칭과 분류의 변경으로 이미 알려진 질환들이 새로운 질환으로 보고되기도 하는데, 저자들은 새로운 분류법에 따른 소아 위장관 알레르기 질환의 질병군에 관하여 알아보고, 국내에서 이미 보고된 관련 문헌을 함께 고찰하여 의학적 교류에 혼선을 최소화 하고자 한다. 방 법: 2003년 3월부터 7월까지 계명대학교 의과대학 소아과를 방문하여, 우유 유발 및 제거시험, 내시경을 이용한 조직생검 등을 이용하여 소아 GI-CMA로 진단된 37례(남 19, 여 18)를 대상으로 후향성 조사하였다. 새로운 분류에는 포함되지 않았으나 위식도역류 관련 알레르기를 추가하였다. 국내 문헌은 소아과학회지, 소아소화기영양학회지, 소아알레르기호흡기학회지를 근거로 고찰하였다. 결 과: 1) 대상 환아의 연령은 2주~15개월, 평균 $5.4{\pm}4.8$개월이었다. 2) 출생체중은 전례에서 10~90백분위수를 차지하였으며, 25~75백분위수가 25례(68%)를 차지하였다. 내원 당시 체중은 3백분위수 이하가 18례(49%)이었다. 3) 증상발현에서 진단까지 걸린 시간은 2주~12개월, 평균 $2.4{\pm}3.3$개월이었다. 4) IgE 군인 IgE 매개형 우유알레르기(IGE) 6례(16%), IgE와 Non-IgE 혼합군인 호산구성 위장관염(EOS) 2례(5%), Non-IgE군인 전형적 우유 단백질 유발 장관염(CMPIE-T) 7례(19%), 비전형적 우유 단백질 유발 장관염(CMPIE-AT) 5례(14%), 알레르기성 대장염(AC) 12례(32%)이었다. 위식도역류증 관련 우유 알레르기(GERA)는 5례(14%)이었다. CMPIE-T 전례에서 소장 조직생검상 장병증이 관찰되었다. 5) 진단 당시 연령은 IGE $4.3{\pm}0.8$개월, EOS 생후 2주와 14개월, CMPIE-T $3.8{\pm}4.6$개월, CMPIE-AT $10.4{\pm}3.8$개월, AC $3.4{\pm}3.9$개월, GERA $7.8{\pm}5.7$개월로 질환군간 유의한 차이를 보였다(p<0.05). 6) 내원 당시 3백분위수 이하를 보인 경우가 IGE 17%, EOS 0%, CMPIE-T 86%, CMPIE-AT 60%, AC 25%, GERA 100%로 질환군간 유의한 차이를 보였다(p<0.05). 7) 국내 문헌을 고찰하여 소아 위장관 우유 알레르기 질환은 만성설사, 난치성설사, 우유 불내성, 우유 알레르기, 위장관 알레르기, 우유 과민성 장병증, 호산구성 위장관염, 알레르기성 대장염 등의 용어로 보고되었다. 결 론: 새로운 분류법에 따른 소아 위장관 우유 알레르기 질환은 연령, 임상 증상, 위장관 침범 부위에 따라 특징적인 유형으로 구분할 수 있으며, 임상적으로 드물지 않다. 국내의 문헌을 통하여 다양한 용어로 각 유형의 알레르기 질환들은 연구 보고되어 왔다. Purpose: A new classification of gastrointestinal food allergy was published, but the changes of terminology between previously reported terms and the new ones were in a state of disorder. This has resulted in confusion between medical communication and diagnostic and therapeutic approaches. The clinical observations of infants presenting with gastrointestinal cow milk allergy (GI-CMA) were performed, and the changes in the terminology reviewed through the published Korean literature. Methods: Between March 2003 and July 2003, data from 37 consecutive infants with GI-CMA, aged 2 weeks to 15 months, were reviewed. The challenge and elimination test of cow milk, and the endoscopic and histologic findings, were used for the seven subdivisions of GI-CMA according to a new classification on the basis of patients' ages, clinical manifestations and location of gastrointestinal lesions. Results: The 37 patients had a mean age of $5.4{\pm}4.8$ months, with those observed in 26 (70.3%) of patients being below 6 months of age. The seven final diagnoses were; cow milk protein-induced enterocolitis (CMPIE) in 12 (32.4%), cow milk protein proctitis (PROC) in 12 (32.4%), IgE-mediated (IGE) in 6 (16.2%), gastroesophageal reflux-associated cow milk allergy (GERA) in 5 (13.5%) and eosinophilic gastroenterocolitis in 2 (5.4%). CMPIE was revealed as the typical type in 7 (18.9%) and the atypical type in 5 (13.5%), and all of typical CMPIE revealed cow milk protein-induced enteropathy. The mean age at symptom onset was $4.3{\pm}0.8$ months, and for those with typical and atypical CMPIE, and PROC and GERA were $3.8{\pm}4.6$, $10.4{\pm}3.8$, $3.4{\pm}3.9$ and $7.8{\pm}5.7$ months, respectively (p<0.05). The period from onset of symptom to diagnosis was $2.4{\pm}3.3$ (0.5~12) months, with those observed in atypical CMPIE and GERA being over 3months. Although the birth weights in all patients were within the 10~90 percentile range, the body weights on diagnoses were below the 3 percentile in 48.6%; IGE 16.7%, EOS 0%, typical CMPIE 85.7%, atypical CMPIE 60.0%, PROC 25.0% and GERA 100% (p<0.05). Through the review of the Korean literature, 8 case reports and 14 original articles for GI-CMA were found. Conclusion: GI-CMA is not a rare clinical disorder and is subdivided into seven categories on the basis of the patient's age, clinical manifestations and location of the gastrointestinal lesions. The terms for GI-CMA are changing with new classifications, and careful approaches are necessary for medical communications.

Cowden 증후군 1례의 장기 추적 관찰

최선윤,김흥식,박경식,이희정,오훈규,황진복,Choi, Seon Yoon,Kim, Heung Sik,Park, Kyung Sik,Lee, Hee Jung,Oh, Hoon Kyu,Hwang, Jin Bok 대한소아소화기영양학회 2004 Pediatric gastroenterology, hepatology & nutrition Vol.7 No.1

위장관에서 용종성 병변이 있을 때 Cowden 증후군의 감별이 필요하며 소아 연령에서는 모든 증상이 발현되지 않으므로 추적 관찰이 필요하리라 판단된다. 특히, 식도의 극세포증은 모습이 독특하고 거의 대부분의 증례에서 보고되고 있어 최근 Cowden 증후군의 진단 시 질병특유의 기준으로 활용되기도 하므로 특히 염두에 둘 필요가 있으며, 그러나 소아 연령에서는 적절한 나이가 될 때까지는 극세포증의 발현이 지연될 수 있음도 반드시 고려하여야 할 것으로 판단된다. Cowden syndrome is very rare clinical condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. Here, the case of a 16-year-old girl with diverse gastrointestinal polyposis with breast and thyroid lesions is reported as a definite case of Cowden syndrome. During follow up for 4 years, changes in the characteristic lesions were observed; Esophageal acanthosis and oropharyngeal polyps were newly developed. Gastric, duodenal, rectal and ileal polyps were noted at the first visit when she was 12 years of age and revealed histologically hyperplastic polyps. Mucocutaneous lesions, the pathognomonic finding of Cowden syndrome, were not noted at the first visit or during the follow up period. Breast and thyroid masses were noted at the first visit. Breast aspiration showed highly cellular ductal epithelial fragments and fibroblastic stromal cell fragments, and a thyroid biopsy shows proliferation of irregular sized follicles, with variable colloid contents. Macrocephaly was also noted at the first visit. The characteristic lesions of Cowden syndrome change with the patient's age, and the long-term follow up is recommended in cases suspected with this syndrome.

산모의 중격자궁과 연관된 선천성 다발성 관절굽음증 1예

김혜경 ( Hae Kyung Kim ),오훈규 ( Hoon Kyu Oh ),홍성연 ( Seong Yeon Hong ) 대한산부인과학회 2012 Obstetrics & Gynecology Science Vol.55 No.9

선천성 다발성 관절굽음증은 다발성 관절의 구축을 보이는 선천적 이상이다. 특징적인 형태학적 이상을 보이나 산전에 초음파로 진단하는 것은 어렵다. 선천성 다발성 관절굽음증의 원인은 크게 중추신경계의 이상, 근육병증, 결합조직 질환, 그리고 양수과소증이나 자궁기형등의 자궁내 환경적인 요인으로 나눌 수 있다. 저자들은 중격자궁을 가진 산모에서 산전초음파로 산전에 선천성 다발성 관절굽음증을 진단하고 원인 규명을 시행한 1예를 경험하였기에 간단한 문헌고찰과 함께 보고하는 바이다. Arthrogryposis multiplex congenita (AMC) is a congenital disorder showing multiple joint contractures. Although there are characteristic features in morphology, it is difficult to diagnose prenatally by ultrasonography. The causes of AMC include abnormalities of central nervous system, myopathies, connective tissue disorders, and intrauterine environmental factors such as oligohydramnios or uterine anomalies. We describe a case of prenatally diagnosed and postnatally evaluated AMC associated with maternal septate uterus.

식품 단백질 유발성 직결장염의 임상 소견과 식이 조절에 관한 연구

최선윤,박문호,최원정,강유나,오훈규,감신,황진복,Choi, Seon Yun,Park, Moon Ho,Choi, Won Joung,Kang, Una,Oh, Hoon Kyu,Kam, Sin,Hwang, Jin-Bok 대한소아소화기영양학회 2005 Pediatric gastroenterology, hepatology & nutrition Vol.8 No.1

목 적: 식품 단백질 유발성 직결장염(dietary protein induced proctocolitis, DPIPC)의 임상적 특성과 장기 추적 관찰에 따른 자연 경과 과정을 알아보고, 모유 수유아에서의 어머니 식이 조절에 관한 새로운 방안을 모색하여 보고자 본 연구를 시행하였다. 방 법: 2003년 3월에서 2004년 7월까지 계명의대소아과 외래와 병동을 방문하여 DPIPC로 진단되고 6개월 이상 추적 관찰된 30명을 대상으로 후향적으로 조사되었다. 모유 수유아는 진단 직후 우유를 포함한 유제품, 계란, 견과류 및 콩류, 어패류, 밀가루 및 메밀의 5가지 음식을 어머니의 식단에서 7일간 제거 한 후 혈변의 소실을 관찰하였으며, 분유 수유아, 모유 부족의 경우는 단백가수분해물을 이용하였다. 결 과: 1) DPIPC의 발병 당시 모유 수유아는 28례(93.3%)이었으며, 2례(6.7%)는 분유 수유아였다. 2) 발병 연령은 생후 $11.5{\pm}5.1$ (5~24)주, 진단 연령은 $17.8{\pm}9.5$ (8~56)주이었다. 발병에서 진단까지 $6.3{\pm}6.7$ (0~36)주가 소요되었다. 3) 진단 당시의 말초 혈액 검사상 호산구수가 $250/mm^3$ 이상 증가된 경우가 27례(90.0%)로 $478{\pm}320$ (40~1,790)/$mm^3$으로 관찰되었고, 혈중 IgE가 증가된 경우는 없었다. 알레르기 MAST 검사를 시행한 26례 중 13례(50.0%)에서 양성 반응을 보였다. 4) S상 결장경을 시행한 15례 중 14례(93.3%)가 결절성 비후(nodular hyperplasia)와 미란에 의한 점막 출혈이 함께 관찰되었으며, 1례(6.7%)에서 국소적 발적만 관찰되었다. 5) 어머니 식단에서 5가지 음식을 배제한 27례 중 20례(74.1%)가 혈변이 소실되었으며, 7례(25.9%)에서 지속되었다. 혈변이 사라진 20례에서 5가지 음식을 선호도에 따라 하나씩 식단에 추가하였을 때 18례(90.0%)에서 혈변을 보였으며, 혈변을 보인 식품은 40건으로 중복 관찰되어, 우유 37.5%, 밀가루 27.5%, 어패류 20.0%, 견과류와 계란이 각각 7.5%로 관찰되었다. 6) 어머니 식단이 혈변없이 완전히 자유로워진 때는 관찰된 27례에서 환자 생후 $29.4{\pm}8.7$ (9~44)주이었다. 7) 환자의 식단이 혈변없이 완전히 자유로워진 시기는 관찰된 25례에서 생후 $37.5{\pm}9.7$ (12~56)주였다. 결 론: DPIPC는 일반적으로 알려진 바와 달리 모유 수유아에 집중되고, 호산구의 증가가 높게 관찰되었다. 어머니의 식단 중 5가지 식품을 제거하여 높은 혈변 소실률을 보였으므로 식이 조절의 방안으로 활용될 수 있을 것으로 판단된다. DPIPC는 생후 12개월까지 96.0%에서 완전한 소실이 관찰되었다. Purpose: The aim of this study was to identify the clinical features and natural history of dietary protein induced proctocolitis (DPIPC) and to detect the causative foods of DPIPC, and to evaluate the effect of elimination of the foods on the course of the disease. Methods: Between March 2003 and July 2004, data from 30 consecutive patients with DPIPC who were followed for over 6 months, was reviewed. The diagnostic criterion used for DPIPC was an increase in the number of eosinophils in the lamina propria (${\geq}60per$ 10 high-power fields). In breast feeding mothers, 5 highly allergenic foods were eliminated from the maternal diet for 7 days, namely, allergenic food groups such as dairy products, eggs, nuts and soybean, fish and shellfish, and wheat and buckwheat. We observed the disappearance or appearance of hematochezia after elimination or challenge with the offending foods. Results: Before diagnosis infants were breast-fed (93.3%) or formula-fed (6.7%). Mean age at symptom onset was $11.5{\pm}5.1$ (5~24) weeks, and mean age at diagnosis was $17.8{\pm}9.5$ (8~56) weeks. Duration from symptom onset to diagnosis was $6.3{\pm}6.7$ (0~36) weeks. Mean peripheral blood eosinophil count was $478{\pm}320$ (40~1,790)/$mm^3$ and eosinophilia (> $250/mm^3$) was observedin 90.0% of patients. None of patients were found to have an increased serum IgE level. Of 15 patients that received sigmoidoscopy, nodular hyperplasia with erosion was observed in 93.3%. Of 27 patients whose mother ate the diet eliminated the 5 food groups, hematochezia diappeared in 74.1% of patients. Offending foods were identified as dairy products (37.5%), wheat and buckwheat (27.5%), fish and shellfish (20.0%), nuts and soybean (7.5%) and eggs (7.5%). A free maternal diet without patient's clinical symptoms was achieved at $29.4{\pm}8.7$ (9~44) weeks of patient's age, and a free baby diet without blood in stools was achieved at $37.5{\pm}9.7$ (12~56) weeks of age. Conclusion: DPIPC commonly occurs in exclusively breast-fed babies. Elimination of the above-mentioned 5 hyper-allergenic food groups from the maternal diet for 7days enables the detection of the offending foods. DPIPC is a transient disorder and 96.0% of patients can tolerate the offending foods at 12 months of age.

제주도 고등학교 학생의 톡소포자충 항체 양성률 및 감염 위험요인

양현종,배종면,최현식,황환식,오훈규,윤동헌,홍성철,Yang, Hyun-Jong,Bae, Jong-Myon,Choi, Hyun-Sik,Hwang, Hwan-Sik,Oh, Hoon-Kyu,Yun, Dong-Hyun,Hong, Seong-Chul 대한예방의학회 2000 예방의학회지 Vol.33 No.3

Objectives : To assess the seroprevalence and risk factors of toxoplasmosis in high school students in Cheju Province, Korea. Methods : A total of 4,570 high school students from 18 schools in Cheju Province were investigated for Toxoplasma gondii antibodies(IgG) by enzyme linked immunosorbent assay (ELISA). Risk factors for toxoplasmosis, such as place of residence, type of house, contact with cats and other pets, and rare meat consumption, were examined by questionnaire. Results . The overall antibody positive rate was 5.5% and ranged from 2.6 to 11.5% by school. There was no significant difference between males and females. Statistical analyses of the questionnaire data indicated that the risk factors for seropositivity were: (1) birth place (Cheju/others), (2) place of residence (rural/urban), (3) dietary habits (vegetarian/non vegetarian), (4) eating rare meat, (5) exposure to pets and (6) hepatitis B. Conclusion : We confirmed that the prevalence of the anti-Toxoplasma gondii antibody in a population of high school students in Cheju Province was to the previously reported prevalence.

Disulfiram에 의한 type IV collagenase 저해효과

신두일,박재복,박관규,조창호,오훈규,최창혁,조현지,장영채,Sin, Doo-Il,Park, Jae-Bok,Park, Kwan-Kyu,Cho, Chang-Ho,Oh, Hoon-Kyu,Choi, Chang-Hyuk,Cho, Hyun-Ji,Chang, Young-Chae 한국생명과학회 2006 생명과학회지 Vol.16 No.6

기질의 침윤과 전이를 특징으로 하는 악성종양 세포는 세포외 기질이나 기저막에 의존적으로 작용한다. 세포외 기질을 분해하는 효소인 matrix metalloproteinase (MMP) 계들의 발현 및 활성증가는 대부분의 악성종양세포에서 전이와 침윤을 촉진시킨다. MMP family 가운데 특히 type IV collagenase 활성을 지닌 MMP-2와 MMP-9은 세포외기질의 중요한 구성분인 collagen, fibronectin을 분해하는 특성을 가지며 암 전이를 용이하게 하는 주요한 효소로 잘 알려져 있다. 본 연구에서는 항암후보물질인 disulfiram이 골 육종 (U20S), 신장암 (Caki-1) 및 자궁암 (Caski) 세포에서 MMP-2와 MMP-9의 효소활성 및 발현억제에 대해 조사하였다. MTT assay를 이용하여 disulfiram에 대한 암세포 viability 실험에서는 disulfiram이 암세포의 viability를 저해하였다. 또한 zymography, western blot 및 RT-PCR 등을 이용한 type IV collagenase의 활성 및 발현 실험에서 disulfiram은 type IV collagenase의 활성을 비롯하여 단백질 및 mRNA 발현을 억제시키는 것을 확인하였다. 따라서 disulfiram이 MMP-2와 MMP-9의 활성 및 발현 억제 기전을 통하여 골 육종, 신장암 및 자궁경부암 세포의 작용을 억제한다는 연구 결과는 disulfiram이 각종 악성종양의 침윤과 전이를 억제 또는 방지하기 위한 치료물질로서 임상에서 활용할 수 있는 가능성을 보여준다. The cancer cells, characterized by local invasion and distant metastasis, are very dependant on extracellular matrix. The expression of matrix metalloproteinases (MMPs) has been implicated in the invasion and metastasis of cancer cells. Among the human MMPs, matirx metalloproteinase-2 (MMP-2) and matrix metalloproteinse-9 (MMP-9) are key enzymes that degrade type IV collagen of the matrix. Here, we studied the effect of disulfiram, an anti-tumor compound, on the suppression of the tumor invasion and the activity of MMP-2, MMP-9 in human osteosarcoma cells (U2OS). Disulfiram had the type IV collagenase inhibitory activity, the effect of inhibition of gene and protein expression, and these inhibitions were responsible for blocking invasion through cell mediated and non-cell mediated pathways. In conclusion, disulfiram inhibited expression of MMP-2 and MMP-9, and regulated the invasion of U2OS, Caki-1 and Caski. These observations raise the possibility of clinical therapeutic applications for disulfiram used as a potential inhibitor of cancer invasion.

5α-환원효소 결핍증

장민정 ( Min Jeong Jang ),오수영 ( Su Young Oh ),최성은 ( Seong Eun Choi ),오훈규 ( Hoon Kyu Oh ),김덕윤 ( Duk Yoon Kim ),최윤석 ( Youn Seok Choi ) 대한산부인과학회 2007 Obstetrics & Gynecology Science Vol.50 No.3

5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the external genitalia in patients with 46,XY karyotype. Recently we experienced a 17 years old patient with chief complaint of primary amenorrhea, who showed 46,XY karyotype, enlarged clitoris, virilization, undeveloped breast and palpable bilateral inguinal mass. We diagnosed it as 5 alpha-reductase deficiency and removed the bilateral gonads, so we report it with brief review of literature.