Mutation in Ret Proto - Oncogene in Medullary Thyroid Cancer and Multiple Endocrine Neoplasia Type 2A ( Men 2A ) and Men 2B with Hirschcprung`s Disease

유순집(Soon Jib Yoo),이희진(Hee Jin Lee),안유배(Yu Bae Ahn),한제호(Je Ho Han),윤건호(Kun Ho Yoon),강무일(Moo Il Kang),차봉연(Bong Yun Cha),이광우(Kwang Woo Lee),손호영(Ho Young Son),강성구(Sung Koo Kang),김영실(Young Sill Kim),김병기(By 대한내과학회 1998 대한내과학회 추계학술대회 Vol.55 No.-

주요 내분비질환의 진료 지침 : 남성갱년기 증후군 -후기 발현 남성 성선기능저하증-

유순집 ( Soon Jib Yoo ) 대한내과학회 2008 대한내과학회지 Vol.75 No.3

Male climacteric syndrome is a clinical and biochemical syndrome characterized by the decline in serum concentration of biologically active forms of testosterone with aging in men which may result in detrimental effect on the quality of life(QOL) and adversely affect the function of multiple organ systems. Androgen replacement therapy may have favorable effect in QOL, body composition, cardiovascular disease, sexual dysfunction and osteoporosis. Controversy in defining the clinical syndrome and in long-term effect of androgen replacement therapy continues. An international consensus document was recently published and provides guidance on the diagnosis, treatment and monitoring of late-onset hypogonadism (LOH) in males. The diagnosis of LOH requires biochemical and clinical components. Any clinical intervention testosterone treatment should be judged on a balance of risk versus benefit. There have been potential concerns regarding the effects of testosterone on prostate disease and polycythemia. The available treatment methods have increased in recent years with the availability of a number of testosterone preparations which can reliably produce physiological serum concentrations. Periodic physician`s evaluations is required to assess the clinical response and to avoid potential adverse events and must be tailored individually. (Korean J Med 75:262-266, 2008)

내분비 질환에 의한 이차 고혈압의 진단과 치료 ; 갈색세포종의 진단과 치료

유순집 ( Soon Jib Yoo ) 대한내과학회 2012 대한내과학회지 Vol.82 No.4

Pheochromocytomas are rare neuroendocrine tumours with a highly variable and heterogeneous clinical manifestation. With a noticeable progress in genetics, biochemical diagnosis and tumour imaging techniques, modifications of the traditional rule of tens for pheochromocytomas are inevitable consequence. Diagnosis of pheochromocytoma depends on biochemical evidence of catecholamine production by the tumor. Plasma free metanephrines provide the best test for excluding or confirming pheochromocytoma and should be used as an initial screening tool, but if it is not available, urinary fractionated metanephrines could be used as an alternative method. Different anatomical and functional imaging modalities are used to localize biochemically proven pheochromocytomas. These include computed tomography, magnetic resonance imaging, single-photon emission computed tomography (SPECT) using 123/131I-metaiodobenzylguanidine (MIBG) or 111In-DTPA-pentetreotide and positron emission tomography (PET). Timely laparoscopic tumour removal in combination with appropriate pre-and intraoperative management of the effects of secreted catecholamines are essential components for excellent prognosis. (Korean J Med 2012;82:403-410)

정상한국인에서 혈중 호모시스테인과 엽산 농도 및 Methylenetetrahydrofolate Reductase 유전자 다형성

오기원(Ki Won oh),이원영(Won Young Lee),안유배(Yoo Bae Ahn),송기호(Ki Ho Song),유순집(Soon Jib Yoo),윤건호(Kun Ho Yoon),강무일(Moo Il Kang),차봉연(Bong Youn Cha),이광우(Kwang Woo Lee),손호영(Ho Young Son),강성구(Sung Ku Kang) 대한내과학회 1999 대한내과학회지 Vol.57 No.6

N/A Background : Hyperhomocysteinemia is an independent risk factor for cardiovascualr disease. Recently, a mutation (677C→T) was identified in the methylenetetrahydrofolate reductase gene leading to the substitution of valine(V) for alanine(A). This mutation causes a reduced folate-dependent enzyme activity which leads to increased homocysteine. In this study, we examined the association between the V allele of the methylenetetrahydrofolate reductase gene and serum total homocysteine and folate concentrations in Korean healthy subjects. Methods : In 198 healthy subjects, the methylenetetrahydrofolate reductase genotypes were analyzed by polymerase chain reaction followed by HinfI digestion. Serum total homocysteine and folate concentrations were measured in age- and sex-matched 14 healthy subjects in each of three methylenetetrahydrofolate reductase genotypes. Results : Homozygosity for 677C→T mutation in the methylenetetrahydrofolate reductase gene was found in 31 (15.7%) of 198 healthy subjects. In healthy subjects, those bearing the VV genotype tend to have higher serum total homocysteine concentrations 1.5 μmol/L(18.6%) than AA genotype but this was not statistically significant. Correlation between serum total homocysteine concentrations and other clinical variables showed that serum folate and creatinine were significant. Conclusion : We conclude that although the frequency of VV genotype in Korean healthy subjects is higher than that of other reports, this mutation is not associated with increased serum total homocysteine concentrations in Korean healthy subjects. (Korean J Med 57:1030-1036, 1999)

증례 : 내분비-대사 ; 원발성 고알도스테론혈증과 동반된 잠복성 쿠싱증후군 1예

황병희 ( Byung Hee Hwang ),유지연 ( Ji Youn Yu ),정진환 ( Jin Hwan Jung ),김성래 ( Sung Rae Kim ),유순집 ( Soon Jib Yoo ),강성구 ( Sung Koo Kang ),이성수 ( Seong Su Lee ) 대한내과학회 2010 대한내과학회지 Vol.79 No.3

원발성 고알도스테론혈증과 잠복성 쿠싱 증후군을 동시에 보이는 부신피질샘종을 진단하였던 예는 극히 드물다. 저자들은 고혈압 및 저칼륨혈증에 의해 야기된 증상을 주소로 내원한 41세 여자에게서 원발성 고알도스테론혈증을 시사하는 검사 소견이 있어 이를 평가하던 중, 원발성 고알도스테론혈증과 잠복성 쿠싱 증후군을 동시에 보이는 부신피질 샘종 1예를 경험하였기에 문헌고찰과 함께 보고한다. Cases of combined primary hyperaldosteronism and subclinical Cushing`s syndrome are extremely rare. We identified a left adrenocortical tumor in a 41-year-old woman by computed tomography (CT) during an evaluation for hypokalemia and hypertension. Hormonal assessment demonstrated normal aldosterone concentrations, low plasma renin activity, an increased aldosterone/renin ratio, and normal serum cortisol levels. Selective adrenal venous sampling for the determination of aldosterone concentrations showed an overfunctioning left adrenal gland. Dexamethasone (overnight 1mg, 2 mg, 8 mg) suppression tests showed insuppressible cortisol. We diagnosed the patient as having an aldosterone-producing adrenal adenoma associated with subclinical Cushing`s syndrome. (Korean J Med 79:321-326, 2010)

증례 : 내분비-대사 ; 말단비대증 환자에서 발생한 급성 림프구백혈병 1예

오영승 ( Young Seung Oh ),최민석 ( Min Seok Choi ),신진경 ( Jin Kyeong Shin ),권희선 ( Hee Sun Kwon ),손장원 ( Jang Won Son ),김성래 ( Sung Rae Kim ),유순집 ( Soon Jib Yoo ) 대한내과학회 2016 대한내과학회지 Vol.90 No.3

말단비대증은 성장호르몬의 과도한 증가로 인해 발생하는 드문 질환이다. 말단비대증 환자는 심혈관질환, 뇌혈관질환, 대사질환이 동반되어 기대수명이 감소한다. 또한 여러 연구를 통해 말단비대증에서 대장, 유방, 기관지와 갑상선에서 악성종양의 유병률이 증가하는 것이 보고되었다. 이러한 악성종양의 증가는 성장호르몬과 인슐린유사성장인자-1과 관련된 것으로 알려져 있다. 그러나 말단비대증에서 혈액암의 발생은 전 세계적으로 보고가 드물고 기전이 명확하지 않다. 저자들은 말단비대증을 진단받고 2년이 경과한 33세 여성에서 발생한 급성 림프구백혈병을 경험하여 국내에서 처음으로 보고한다. Acromegaly is a rare disorder caused by excessive amounts of growth hormone. The incidence of colorectal, breast, and thyroid carcinomas is increased in acromegaly. However, there have been few reports on hematological malignancies in acromegaly. We describe a patient who developed acute lymphoblastic leukemia during the course of acromegaly. A 35-year-old woman presented in February 2012 with unexplained lactation and amenorrhea for 4 months. Her growth hormone level was 12.6 μg/L, insulin-like growth factor 1 592.26 ng/mL, and prolactin 242 μg/L. A pituitary macroadenoma secreting GH and prolactin causing acromegaly was diagnosed. Considering her fertility, the dopamine agonist cabergoline 0.5 mg was administered in March 2012. In February 2014, she presented with cytopenia (hemoglobin 12.2 g/dL, white cell count 2.69 × 109/L, platelets 39 × 109/L) and hepatosplenomegaly. A bone marrow examination showed acute B cell lymphoblastic leukemia. She underwent chemotherapy and bone marrow transplantation. A follow-up bone marrow biopsy showed remission. (Korean J Med 2016;90:243-247)

증례 : 내분비-대사 ; 기능성 재발을 보인 알도스테론 분비성 부신피질암 1예

문형일 ( Hyung Il Moon ),김지은 ( Ji Eun Kim ),이성수 ( Seong Su Lee ),진종률 ( Jong Youl Jin ),박일영 ( Il Young Park ),강성구 ( Sung Koo Kang ),유순집 ( Soon Jib Yoo ) 대한내과학회 2009 대한내과학회지 Vol.77 No.5S

알도스테론 분비성 부신피질암은 1955년 이후 현재까지 60여 명 보고된 매우 드문 암이다. 현재까지의 보고에 의하면 치료하지 않은 경우 평균생존율이 3개월이며 임상경과 중 전이가 흔하게 보고되어 예후가 불량한 암이다. 저자들은 반복되는 재발과 전이를 보이는 알도스테론 분비성 부신피질암 1예를 경험하였다. 내원 10개월 전 타병원에서 복강경하 알도스테론 분비성 부신피질암을 수술받은 27세 여성이 조절되지 않는 고혈압을 주소로 내원하였다. 이에 알도스테론 분비성 부신피질암의 기능성 재발로 진단하고 개복수술과 항암치료를 시행하였으며 이후에도 전이성 병변을 보여, 재수술과 방사선 치료를 시행하였다. 부신피질암의 가장 효과적인 치료는 근치적 절제이며 이것이 예후에 가장 중요한 인자이다. 이는 절제가능한 병변뿐만 아니라 재발 또는 전이성 병변에 있어서도 완전절제가 예후에 중요하다. 저자들은 젊은 환자에서 고혈압 진단에 있어서 반드시 2차성 고혈압의 진단을 유념해야 하고, 드물지만 악성 부신피질암의 가능성을 염두에 두고 이에 대한 정확한 진단과 적극적인 치료의 중요성을 강조하기 위하여 본 증례를 보고하는 바이다. Aldosterone-producing adrenocortical carcinoma (APAC) is an extremely rare disease. Recently, we experienced a case of recurrent and metastatic APAC: 10 months ago a 27-year-old female was admitted for uncontrolled hypertension after laparoscopic right adrenalectomy due to APAC. A radical operation and chemotherapy had previously been performed based on the diagnosis of APAC with functional recurrence. One-year later, metastasis to the right psoas muscle occurred, which required extensive excision and radiation therapy. Radical surgery is the only curative approach for APAC and is recommended for all patients with resectable tumors, even those with recurrent disease. Here we report a case of functional APAC (aldosterone-producing) that presented with recurrence and metastasis. (Korean J Med 77:S1206-S1211, 2009)

자기공명촬영으로 진단된 결핵성척추 지주막염 2예

유순집,김석헌,김용주,방병기,강문원,최의진,김석영,우제영,양철우 대한감염학회 1993 감염 Vol.25 No.3

Tuberculous arachnoiditis of the spine is a serious illness with no known definite pathogenesis and therapeutic modalities. It usually has been diagnosed by invasive procedures such as conventional myelography and CT myelography. We recently experienced two patients with arachnoiditis whose conditions were too poor to perform these invasive studies. One was CRF patient in the course of tuberculous meningitis and the other was the patient with comatous mentality and paraplegia which developed during the acute stage of tuberculous menigitis. These patients were diagnosed tuberculous arachnoiditis by spine MRI and medicated antituberculous drug and steroid combination or steroid therapy alone with successful clinical improvement. We reviewed the MRI as a diagnostic tool and steroid as a therapeutic regimen.

약물에 의한 전신성 피부 발진과 연관된 항이뇨호르몬 분비이상 증후군 1예

이광우,손호영,유순집,강성구,박진노,송호진,허동,차봉연,최주연 대한내분비학회 1998 Endocrinology and metabolism Vol.13 No.2

Syndrome of inappropriate antidiutetic hormone(SIADH) secretion is the most common cause of hyponatremia in clinical medicine. Before diagnosis of the SIADH is made, other causes for a decreased diluting capacity and nonosmotic stimuli for AVP release need to be rule out. Disorders associated with SIADH can be divided into 4 major etiologic groups: malignancies, pulmonary diseases, central nervous disorders, and drugs. A 45-year-old woman was admitted due to maculopapular skin eruption and fever after taking medications for fever and myalgia. Generalized tonic clonic seizure was developed nine days later, and laboratory results showed marked hyponatremia. During the evaluation, treatment, and subsequent follow-up, the diagnosis of SIADH was confirmed, but the definitive cause was obscure. With fluid restriction, sodium replacement and demeclocycline therapy, she recovered completely 6 months later. We suggest that the SIADH might be related to drug-induced generalized maculopapular rash via menmgitis-like reaction in CSF as one of systemic adverse side effects to drugs rather than direct effect of related drugs (J Kor Soc Endocrmol 13:240~246, 1998).

산욕기에 발현된 중추성 요붕증 1예

이광우,손호영,유순집,강성구,정명희,최범순,차봉연 대한내분비학회 1997 Endocrinology and metabolism Vol.12 No.2

Diabetic insipidus may first present before, during or immediately after pregnancy. Pregnancy serves as a physiologic provocation test that unmasks latent diabetes insipidus. It may explain the very rare first occurrence of diabetes insipidus in the pureperium. Central diabetes insipidus occurring after delivery associated with a catastrophic delivery and postpartum hypopituitarism is more frequent entity. We recently experienced central diabetes insipidus patient, aggrevated polyuria and polydipsia after total hysterectomy due to cervical carcinoma, who had interesting past history of severe polyuria and polydipsia developed during puerperium of 1st pregnancy, 14 years ago. She have had quiet normal pregnancy and there was no definite postpartum complication of pregnancy at that time. There were no change of polyuria and polydipsia during and after second pregnancy and 2 another pregnancy terminated artificially compare to puerperium of 1st delivery. She has intact anterior pituitary gland functinally and anatomically, but the posterior pituitary hyperintense signal with pre-enhance Tl-weighted imaging was absent on MRI. (J Kor Soc Endocrinol 12:315-320, 1997)