• Clinical and Experimental Reproductive Medicine
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• 제10권2호
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• pp.25-37
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• 1983

As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.

• Advances in pediatric surgery
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• 제13권2호
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• pp.222-227
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• 2007

A differential diagnosis between the true hermaphroditism (TH) and mixed gonadal dysgenesis (MGD) has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. A 17-month-old boy was presented with proximal hypospadias with chordee and right non-palpable testis in his scrotum. He also had right auricular anomaly including a separated tragus with skin tag. Left testis was well palpable in his left scrotum. Diagnostic right inguinal exploration showed Mullerian structures such as a gonad like an ovary and a fallopian tube with a uterus, which were removed. Repair of hypospadias and right auricular anomaly was also done. Following ultrasonography (USG) showed a normal looking testis in left scrotum. His chromosome was 45, XO/46, XY. We report a difficult case of mixed gonadal dysgenesis mimicking true hermaphroditism which combines ipsilateral congenital auricular anomaly.

• 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.

• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.457-465
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• 1999

Objective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Turner syndrome and 46,XY pure gonadal dysgenesis (PGD, Swyer syndrome). Method: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Turner syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46,Xi(Xq), 1 45, XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. Results: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45, XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Y q), 45,XO/46,XY) and 2 PGD patients. Conclusion: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.30-34
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• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• Clinical and Experimental Reproductive Medicine
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• 제41권1호
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• pp.29-32
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• 2014

Objective: To investigate the causes of amenorrhea in Korean women. Methods: Medical records from 1,212 women with amenorrhea who visited the Department of Obstetrics and Gynecology, Asan Medical Center, between January 1989 and December 2011 were retrospectively reviewed. Amenorrhea was categorized as either primary or secondary. Results: Primary amenorrhea was identified in 132 of the patients (10.9%) and secondary amenorrhea in 1,080 (89.1%). The most frequent causes of primary amenorrhea were gonadal dysgenesis (28.0%, 37/132); Mayer-Rokitansky-K$\ddot{u}$ster-Hauser syndrome (20.0%, 27/132); and constitutional delay and androgen insensitivity syndrome (8.3%, 11/132; 8.3%, 11/132, respectively). Secondary amenorrhea was due to polycystic ovary syndrome (48.4%, 523/1,080); premature ovarian insufficiency (14.0%, 151/1,080); and nutrition-related hypogonadotropic hypogonadism (8.3%, 90/1,080). Conclusion: In this retrospective study, gonadal dysgenesis was the most common cause of primary amenorrhea and polycystic ovary syndrome was the most common cause of secondary amenorrhea in Korean women.

• Clinical and Experimental Pediatrics
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• 제48권12호
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• pp.1317-1323
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• 2005

목 적 : 성염색체이상증후군은 사춘기 이후 이차 성징의 결여로 그 증상이 뚜렷해지므로 사춘기 이전의 진단은 쉽지 않다. 본 연구는 성염색체이상증후군의 빈도, 진단시 연령, 그리고 임상적 특징을 조사하여 그 의의를 알아보고자 한다. 방 법 : 1981년 2월부터 2001년 8월까지 20년 동안 경북대학교병원 소아과 염색체검사실에 의뢰된 염색체검사 중 성염색체 이상증후군으로 진단된 115례 환자의 임상적 특징, 진단시 연령 그리고 핵형 분석을 후향적인 방법으로 조사하였다. 결 과 : 성염색체이상증후군의 종류와 빈도는 Klinefelter 증후군은 52%, Turner 증후군은 42%, XXX 증후군은 3%, 혼합 성선이형성은 3%였다. Klinefelter 증후군은 47,XXY가 97%, mosaicism이 3%였고, Turner 증후군은 45,X가 67%, mosaicism이 23%, X 염색체의 구조적 이상은 10%였다. XXX 증후군은 47,XXX가 67%, mosaicism은 33%였고, 혼합 성선이형성은 모두 45,X/46,XY였다. 성염색체이상증후군의 81%가 사춘기 이후에 진단되었다. 신생아기에 Klinefelter 증후군과 Turner 증후군으로 진단받은 경우는 표현형이 정상이거나 경한 선천성기형만을 보였다. Turner 증후군과 Klinefelter 증후군의 mosaicism이나 구조적 이상군에서 전형적인 45,X나 47,XXY보다 신체상 증상 발현이 경미할 것으로 생각되었으나 본 연구에서는 통계학적으로 유의한 차이는 보이지 않았다. 결 론 : 성염색체이상증후군은 사춘기 이전에는 그 증상이 뚜렷하지 않으므로 환아에 대한 주의 깊은 관찰과 관심으로 조기에 진단하여 정상적인 정신성적발달과 성장발육 및 성생활을 유지하도록 부모와 환아의 질환에 대한 인지도를 높여야 할 것으로 사료된다. 특히 핵형 분석시 Turner 증후군은 X염색체의 다양한 구조 이상 또는 mosaicism의 빈도가 높기 때문에 핵형 분석시 이를 염두에 두어야 한다.

• 대한임상검사과학회지
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• 제42권3호
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• pp.111-115
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• 2010

A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

• 대한영상의학회지
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• 제84권5호
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• pp.1181-1184
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• 2023

Swyer 증후군은 생식샘 발달에 영향을 미치는 희귀 유전질환으로 원발성 무월경의 드문 원인이다. 이 증후군은 46, XY 핵형을 가지나 표현형은 여성으로 나타나는 특징을 보인다. 이번 증례는 원발성 무월경을 주소로 내원한 16세 여성으로 컴퓨터단층촬영에서 자궁과 양측 난소가 관찰되지 않으며 양쪽 사타구니 부위에서 위축된 고환으로 보이는 석회화 결절이 관찰되었다. 염색체 연구에서 46, XY로 Swyer 증후군으로 확진되었다. 이에 저자들은 원발성 무월경의 드문 원인으로 Swyer 증후군을 보고하고자 한다.

• 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.