후각구 형성부전을 동반한 칼만증후군 1례

남윤성,이숙환,한세열,윤태기,차광열,Nam, Y.S.,Lee, S.H.,Han, S.Y.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.2

Kallmann's syndrome has both a general and specific connotation in describing general condition of gonadotropin-releasing hormone (GnRH) deficiency or a particular cluster of anomalies associated with primary eunuchoidism. The familial occurrence of hypogonadotropic hypogonadism associated with anosmia, color blindness, synkinesia, and mental defect is the classic Kallmann's syndrome. Interestingly, anosmia, or lack of smell, was not found in the absence of gonadal deficiency in the original study of this disorder. This disorder was found on both sexes, but the male to female ratio was 11:1, and Kallmann's syndrome is more often listed under disorders of male hypogonadism for this reason. Gross anatomy has shown disorders of the olfactory bulbs associated with Kallmann's syndrome and it was demonstrated a failure of GnRH-containing cells to migrate from the olfactory placode to the hypothalamus and preoptic area. We have experienced a case of Kallmann's syndrome which showed a hypoplasia of olfactory bulb in MRI during the workup of primary amenorrheic patient. So we report this case with a brief review of literatures.

항인지질증후군과 관련된 반복자연유산 1례

남윤성,한세열,최동희,윤태기,차광열,Nam, Y.S.,Han, S.Y.,Choi, D.H.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1998 Clinical and Experimental Reproductive Medicine Vol.25 No.3

Antiphospholipid antibody is an immunoglobulin which may be of any class and which reacts with any phospholipid. For clinical use the definition of the term anti-phospholipid antibody is usually restricted to IgG and/or IgM antibody directed against the negatively charged phopholipids, cardiolipin, phosphatidyl inositol, phosphatidyl serine, or phosphatidic acid. The antigen of the serological test for syphilis is cardiolipin; negatively charged phopholipids are understood to be antigens to which lupus anticoagulants are directed. The term 'anticardiolipin' antibody syndrome, 'antiphospholipid' antibody syndrome, and 'lupus anticoagulant' syndrome are often, imprecisely, used interchangeably. We have experienced a case of recurrent spontaneous abortion with antiphospholipid antibody. So we report this case with a brief review of literatures.

KALIG-1유전자 음성을 보인 격리성 성선자극호르몬 부족증 1례

남윤성,이숙환,곽인평,윤태기,차광열,Nam, Y.S.,Lee, S.H.,Kwak, I.P.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1998 Clinical and Experimental Reproductive Medicine Vol.25 No.3

Hypogonadotropic hypogonadism, or the lack of function of the testis or ovary secondary to the lack of pituitary and or hypothalamic trophic hormones, is also sometimes generally termed Kallmann's syndrome. Whether such deficiencies arise from an inborn error of hypothalamic organization and pituitary connection or damage to the hypothalamic pituitary system in prepubertal life, the manifestations of a eunuchoid or apubertal individual with potentially competent pituitary and gonadal function will result. Beyond the achievement of puberty, a similar situation can be recreated by the administration of a long-acting GnRH analog or by conditions of secondary hypothalamic dysfunction such as anorexia nervosa where shutdown of GnRH and its resultant effects cause cessation of gonadal function and even a regression of secondary sexual characteristics. Technically, these conditions are not Kallmann's syndrome but one must recognize the similarities. We have experienced a case of isolated gonadotropin deficiency which showed a negative KALIG-1 gene in infertile patient with primary amenorrhea. So we report this case with a brief review of literatures.

말초혈액과 생식선에서 SRY유전자 양성을 보인 Swyer증후군 1례

남윤성,이숙환,한정희,조성원,윤태기,이정노,차광열,Nam, Y.S.,Lee, S.H.,Han, J.H.,Cho, S.W.,Yoon, T.K.,Lee, C.N.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.2

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.

자가면역 혈소판감소성 자반병과 관련된 항인지질 증후군 1례

남윤성,이우식,박찬,윤태기,차광열,Nam, Y.S.,Lee, W.S.,Park, C.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.2

Thrombocytopenic patients without detectable bound antiplatelet antibody should be diagnosed with idiopathic thrombocytopenic purpura (ITP) if no other cause of their decreased platelet count could be found. More recently the term "autoimmune thrombocytopenic purpura (ATP) has supplanted ITP since the disease is related to the production of autoantibodies against one's own platelets. This entity should not be confused with isoimmune thrombocytopenic purpura (also called alloimmune thrombocytopenic purpura). In this cases maternal antiplatelet antibodies directed against the PLA 1 antigen on the fetal platelets causes severe fetal and neonatal thrombocytopenia in a situation analogous to Rheusus disease. Antibodies to the negatively charged phospholipids, lupus anticoagulant, and anticardiolipin have been linked to adverse pregnancy events. Pregnant women possessing these antibodies have an increased risk of spontaneous abortion, stillbirths, intrauterine fetal growth retardation, preterm birth, and arterial and venous thrombosis. Antiphospholipid antibodies decrease or may even disappear between pregnancies only to recur with increased activity in a subsequent pregnancy and lead to loss. We have experienced a case of antiphospholipid syndrome associated with autoimmune thrombocytopenic purpura in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

전기사정과 시험관아기시술에 의한 성공적인 임신 1례

남윤성,김현주,전윤정,김현규,엄기붕,윤태기,차광열,Nam, Y.S.,Kim, H.J.,Jun, Y.J.,Kim, H.K.,Oum, K.B.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.1

Although anejaculation is a relatively uncommon occurrence in the general population, over 12,000 new cases are reported annually. Anejaculation may result from spinal cord injury, retroperitoneal lymph node dissection, diabetes mellitus, transverse myelitis, multiple sclerosis, or psychogenic disorders. At least 30% of men with this problem are or will be married and many will seek help to remedy their infertile state. The evolution of technique and instrumentation over the last 30 years has made electroejaculation an accessible and acceptable form of therapy. Recent successes in inducing ejaculation by means of rectal probe electrostimulation or vibratory stimulation combined with assisted reproductive techniques, such as zygote intrafallopian transfer (ZIFT), gamete intrafallopian transfer (GIFT), and in vitro fertilization (IVF), have provided these men means of producing their own biologic offspring. We have experienced a successful pregnancy with electroejaculation and in vitro fertilization in a infertile patient whose husband had an ejaculatory disturbance due to a spinal cord injury. So we report this case with a brief review of literatures.

Pergolide에 반응한 Bromocriptine 저항성 고프로락틴혈증 1례

남윤성,한세열,최동희,윤태기,차광열,Nam, Y.S.,Han, S.Y.,Choi, D.H.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.2

Dopamine agonists are commonly used in the medical treatment of prolactinomas. Bromocriptine has been the most widely used ergot derivative for two decades. Its oral administration, at a daily dose of $2.5{\sim}7.5mg$, restored normal gonadal function and normoprolactinemia in about 80% of patients. Nevertheless, a subset of patients could not achieve normal prolactin levels or resume normal gonadal function despite $15{\sim}30mg$/day bromocriptine for at least 6 months. Subsequently, these prolactinomas were consedered to be resistant to bromocriptine. The percentage of bromocriptine - resistant prolactinoma patients reported in the literature varies between 5 and 17% according to the series. Patients with bromocriptine resistance or bromocriptine intolerance have, however, been treated with other dopamine agonists, such as lysuride, pergolide, cabergoline, or quinagolide. Until cabergoline recently gained a product licence in the UK, there was no alternative dopamine agonist with a licence for this purpose. Quinagolide (CV $205{\sim}502$, Norprolac, Sandoz) is a nonergot dopamine agonist with improved selectivity for the D2 receptor, designed to retain the active pharmacophore of bromocriptine without the ergot moiety that might be responsible for side - effects. We have experienced a case of bromocriptine resistant hyperprolactinemia which was reponsive to pergolide. So we report this case with a brief review of literatures.

C단백질 부족증과 관련된 항인지질 증후군 1례

남윤성,한세열,최동희,윤태기,차광열,Nam, Y.S.,Han, S.Y.,Choi, D.H.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.1

A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

Y염색체 장완 결실을 동반한 무정자증 1례

남윤성,김현주,이숙환,곽인평,윤태기,차광열,Nam, Y.S.,Kim, H.J.,Lee, S.H.,Kwak, I.P.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.2

Different Y mutation in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males $(5{\sim}20%)$ may indicate a need for a general screening programme for its analysis in infertility clinic. We have experienced a case of deletion distal to Yq11 region in azoospermic patient. So we report this case with a brief review of literatures.

한국인의 난포자극호르몬수용체 유전자변이에 대한 분석

남윤성,김남근,최명진,박상희,정기화,이숙환,윤태기,차광열,Nam, Y.S.,Kim, N.K.,Choi, M.J.,Park, S.H.,Chung, K.W.,Lee, S.H.,Yoon, T.K.,Cha, K.Y. 대한생식의학회 1998 Clinical and Experimental Reproductive Medicine Vol.25 No.3

Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Many causes of premature ovarian failure were reported, including genetic abnormalities, enzymatic defects, defects in gonadotropin secretion or action, autoimmune disorders, physical and idiopathic causes. Recently, Finnish group reported a point mutation in the follicle stimulating hormone (FSH) receptor gene in premature ovarian failure patients. But it was reported that the group from United States could not find any mutation in FSH receptor gene. So we analysed C566T point mutation of FSH receptor gene using restriction fragment length polymorphism (RFLP) and compared the result between premature ovarian failure patient with idiopathic and known causes. But we did not find 556C${\rightarrow}$T mutation in the FSH receptor gene in both groups. These findings suggest that the missense mutation in the human FSH receptor gene reported in Finnish women with premature ovarian failure is uncommon in Korean women with premature ovarian failure.