• Journal of Korean Neurosurgical Society
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• 제37권2호
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• pp.137-140
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• 2005

Most vascular disorders tend to affect both the brain and heart, and among them, a clinical syndrome constituting cerebral aneurysm and aortic coarctation(AC) has been well recognized. Persistent hypertensive impact to the cerebral vasculature with developmental anomaly of the neural crest, precursor of ectomenchymal, would be closely associated with development of the cerebral aneurysm in AC. Gonadal steroid hormone, a guardian of the cardiovascular system, has been known for its protective effects on the vascular wall. Gonadal steroid hormone (androgen) insensitivity such as 46,XY female syndrome may increase the risk of hypertention and subsequent vascular anomalies. The authors report on a 46-year-old 46,XY female patient with AC who underwent surgical clipping of the ruptured cerebral aneurysm. Clinical implications and proposed pathogenetic mechanisms of aneurysm in this intersex syndrome are presented and discussed.

• Clinical and Experimental Reproductive Medicine
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• 제9권1_2호
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• pp.79-93
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• 1982

We collected a total of 109 patients with intersex during the past 16 years (1966-1982). They were summerized as follows: Klinefelter's syndrome, the most common disease, was found in 76 cases, Turner's syndrome in 3 cases, true hermaphroditism in 5 cases, male pseudohermaphroditism in 5 cases, female pseudohermaphroditism in 13 cases and others in 7 cases in which 2 cases of XX male syndrome, 1 case of agonadism, 1 case of hernia uteri inguinale and 3 cases of unclassified intersex were included. 2 mosaic Klinefelter's syndrome showed 46/47 XX/XXY and 1 mosaic Turner's syndrome showed 45/46 XO/XX. The 5 patients with true hermaphroditism included 2 cases that had an ovary on one side and a testis on the other, 1 case, seperate ovary and testis on each side, 1 case, an ovary on one side and a seperate testis and ovary on the other and 1 case, an ovary on one side and an ovotestis on the other. Sex chromosome study on the true hermaphroditism revealed 46 XX in 2 patients and 46/46 XX/XY mosaicism in 3 patients. In male pseudohermaphroditism, all patients had a short and blind vagina. Of which, familial tendency was found in 1 case. Her sister had operation for sex reversal for female. In female psedohermaphroditism, all the patients were adrenogenital syndrome. Operations for clitoridectomy and vaginoplasty were performed on 10 patients. Hydrocortisone was given to 6 patients. Menstruation started to occur 6 months and 4 months after the medical therapy respectively in 2 cases.

• 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.

• Clinical and Experimental Reproductive Medicine
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• 제13권2호
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• pp.161-174
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• 1986

A chromosomal study was performed in a total of 162 urological patients during past 2$2{\frac{1}{2}}$ years (Feb. 1984 - Aug. 1986). Of these 78(48%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (69/78) had aberrations of chromosome number, 8% (6/78) had aberrations of chromosome structure and 4% (3/78) had aberrations of both. 90% (65/72) of numerical abnormality was Klinefelter's syndrome and the structural abnormality rate (5.6%, 9/162) was less than that (6.99%) of general population. The chromosomal study was mandatory for the detection of intersex in small testes or hypospadias with cryptorchism or clitoromegaly or bilateral cryptorchism. But unilateral cryptochism or hypospadias with normal scrotal testes was not thought to be indication of the chromosomal study if the external genitalia are otherwise quite normal.

• 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.