A chromosomal study was performed in a tota1 of 98 patients with suspected Y chromosomal abnormalities during past 1-1/2 years (Feb. 1984 -Aug. 1985). Karyotypes were obtained using short-term blood culture. Of these 43 (44%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (38/43) had aberrations of chromosome number and others 32% (5/42) had aberrations of chromosome structure. The results of chromosomal study in various groups showed as follows: l. In 34 cases of Klinefelter's syndrome, there were 31 cases (91%) of 47,XXY, 1 case of 46,XX,47, XXY, 1 case of 48, XXXXY and 1 case of 46,XX/46,XY/47,XXY. 2. AII 3 cases of mixed gonadal dysgenesis had 45,X/46,XY. 3. l case of true hermaphroditism had 46,XX. 4. Z cases of male Turner`s syndrome, 6 cases of male pseudohermaphroditism and 1 case of agonadism had 46,XY. 5. In 6 cases of female pseudohermaphroditism, there were 4 cases of 46,XX, 1 case of 46,XX, inv(9) and 1 case of 46,XX, t (14q, 21q). 6. In 28 cases of hypogonadism (excluding Klinefelter`s syndrome), there were 25 cases (89%) of 46, XY, 1 case of 46,XY, 15s-, 1 case of 46,XY, inv(9) and 1 case of 46,XY/46, XY,t(7 : 14). 7. 1 case of cryptorchism had 47,XY,+21. 8. All of 5 cases of hypospadia, 5 cases of cryptorchism, 3 cases of hypospadia with cryptorchism, 2 cases of small phallus, 1 case of concealed penis and 1 case of normal male who wanted to correct his registered sex had 46,XY.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Chromosome Aberrations* ; Chromosome Structures ; Complement System Proteins ; Cryptorchidism ; Cytogenetics* ; Down Syndrome ; Female ; Gonadal Dysgenesis, Mixed ; Humans ; Hypogonadism ; Hypospadias ; Karyotype ; Klinefelter Syndrome ; Male ; Ovotesticular Disorders of Sex Development ; Penis ; Y Chromosome

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.
Chromosome Disorders ; Disorders of Sex Development ; Female ; Genes, sry* ; Genitalia ; Gonadal Dysgenesis, Mixed* ; Gonads ; Humans ; Karyotype ; Male ; Mass Screening ; Monosomy ; Mosaicism ; Sex Differentiation ; Turner Syndrome*

PURPOSE: We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. METHODS: We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental and growth retardation were included. RESULTS: The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations(78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. CONCLUSION: It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.
Abnormalities, Multiple ; Chromosome Aberrations* ; Disorders of Sex Development ; Down Syndrome ; Female ; Fragile X Syndrome ; Gwangju ; Humans ; Klinefelter Syndrome ; Korea ; Male ; Molecular Biology ; Turner Syndrome

PURPOSE: We investigated the clinical characteristics and relationship between chromosome and its phenotypic expression in patients with 45 XO/46XY mosaicism or 45 XO with SRY gene. MATERIALS AND METHODS: 11 patients with 45XO/46XY chromosomal abnormality and 4 patients with 45XO with SRY positive reaction admitted from 1990 to 1996 were evaluated. Patients were grouped according to chromosome and gonadal expression. Group A consisted of patients with 45XO/46XY chromosome and unilateral streak gonad, group B patients with 45XO chromosome, SRY positive reaction and unilateral streak gonad and group C patients with 45XO/46XY chromosome and bilateral streak gonads. RESULTS: Of the total 15 patients, the number of patients in group A, B, and C were 8, 4, and 3, respectively. SRY gene was positive in all group A and B patients but only one patient was positive in group C. Of the 8 patients in group A, 5 patients had a high XY mosaicism ratio compared to XO whereas an equal ratio was observed in the remaining 3 patients. Of the 4 male penotype patients only 1 patient had a high XY mosaicism ratio compared to XO while 3 patients displayed an equal ratio. There was no difference in associated anomaly and the degree of severity of ambiguity according to the mosaicism ratio in all patients. CONCLUSIONS: There was no definite correlation between the mosaicism ratio and phenotypic expression. Presence of SRY gene in 45XO patients may suggest MGD(mixed gonadal dysgenesis) and therefore, the evaluation SRY gene could be useful in the diagnosis of 45XO patients with ambiguous genitalia.
Chromosome Aberrations ; Diagnosis ; Disorders of Sex Development ; Genes, sry* ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Male ; Mosaicism*

To provide current information on sex chromosome abnormalities to obstetricians andgynecologists who encounter such diagnoses and who counsel prospective parents faced withthe prenatal diagnosis of a sex chromosome abnormalities. I reviewed 116 patients' clinical data and results of karyotype which proven sexchromosome abnormalities in cytogenetic unit of Department of Ob. and Gyn., PNUH during theperiod of 1993. Aug.~1996. Dec.The results of the analysis of karyotyping in sex chromosome abnormalities in these 116cases are like following.1. Peak age group when diagnosed abnormal sex chromosome is 26~35 years old inmen(46 among 56 cases) and 16~30 years old in women(40 among 60 cases).2. The most common primary reason of abnormal sex chromosome is sterility inmen(48 among 56 cases) and amenorrhea in women(36 among 60 cases).3. The most common referred primary reason in Klinefelters syndrome issterility(44 among 49 cases) and in Turners syndrome is primary amenorrhea(27 among55 cases).4. The most common type of abnormal sex chromosome is Klinefelters syndrome inmen(49 among 56 cases) and Turners syndrome in women(55 among 60 cases).5. In my 116 cases of abnormal sex chromosome, numerical abnormalities are 67 cases,mosaicisms 28 cases, structural abnormalities 13 cases, XY female 6 cases, and XX male2 cases. So the most common abnormal sex chromosome is numerical abnormality.6. In my 55 cases of Turners syndrome, XO karyotypes are 26 cases, X, abnormal X are11 cases, and mosaic pattern are 18 cases. So the most common karyotype in Turnerssyndrome is standard pattern(45,X).In conclusion, abnormal sex chromosome were very important causes of infertility,amenorrhea, abnormal pubertal development, ambiguous genitalia, and stature. Therefore,these patients must taken cytogenetic study, and obstetrics and gynecologists provideaccurate and comprehensive genetic counseling.
Amenorrhea ; Chromosome Aberrations* ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Female ; Genetic Counseling ; Humans ; Infertility ; Karyotype ; Karyotyping ; Klinefelter Syndrome ; Obstetrics ; Parents ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Sex Chromosomes ; Turner Syndrome

XO/XY mosaicism is frequently observed in the most patients with mixed gonadal dysgenesis. Mixed gonadal dysgenesis is a condition of Intersexuality characterized by asymmetric gonads or ambiguous genitalia or both. The external genitalia are always masculinized to some extent, on occasion represent a hypospadias as a common genetic form of a mixed gonadal dysgenesis. The disorder probably results from a cytogenic error that occurs early in embryogenesis. Phenotypic males with mixed gonadal dysgenesis have a high risk of developing gonadal tumors. We describe a case of hypospadias with a unilateral testis and XO/XY chromosome complement that is considered as a mixed gonadal dysgenesis.
Chromosome Aberrations* ; Complement System Proteins ; Disorders of Sex Development ; Embryonic Development ; Female ; Genitalia ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Hypospadias* ; Male ; Mosaicism ; Pregnancy ; Testis

The disorders of sexual differentiation occurred due to the incompatibility of chromosomal sex, gonadal sex and phenotypic sex. A gene within Y chromosome such as SRY gene has been searched to explain this phenomenon. We report cases of defective sexual differentiation, where it is difficult to diagnose with Giemsa stain of Y chromosome alone but SRY gene evaluation was helpful in the diagnosis and treatment of these cases. Genomic DNA from WBC was extracted. XES 10 and XES 11 were used as primers in separately SRY gene by electrophoresis. A positive SRY gene facilitated in confirming the diagnosis of the following cases: Klinefelter`s syndrome with a positive SRY gene originally diagnosed as 46 XX male, Klinefelter`s syndrome with 46XX,a positive SRY gene that was thought to be chordee without hypospadias. Turner`s syndrome that was difficult to be diagnosed due to 46XY, a positive SRY gene, however, SRY gene detection was helpful to detect germ cell tumor development early. 46XX hermaphroditism without SRY gene was diagnosed as true intersex after pathologic examination. Two cases of 46XY hermaphroditism with SRY gene were diagnosed finally as 46 XY true intersex and mixed gonadal dysgenesis each other. Congenital adrenal hyperplasia and androgen receptor defect were confirmed by traditional methods such as hormonal tests and radiologic findings. SRY gene evaluation facilitated in identifying the pathophysiology of many defective sexual differentiations, however, this alone had a limit to explain all these cases. So future research into genes in the autosome, sex chromosome and Z protein will help in the diagnosis and treatment of patients with the disorders of sexual differentiation.
Adrenal Hyperplasia, Congenital ; Azure Stains ; Diagnosis ; Disorders of Sex Development ; DNA ; Electrophoresis ; Female ; Genes, sry* ; Genes, vif ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Hypospadias ; Male ; Neoplasms, Germ Cell and Embryonal ; Receptors, Androgen ; Sex Chromosomes ; Sex Differentiation* ; Y Chromosome

Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be overgrown by more malignant germ cell neoplasms. The tumor has been reported to almost exclusively develop in various types of gonadal maldevelopment syndromes containing the Y chromosome, such as in pure or mixed gonadal dysgenesis and, less commonly, in male hermaphroditism. However, occurrences in phenotypically and chromosomally normal, menstruating women are exceptionally rare. We report two cases of gonadoblastoma overgrown by dysgerminoma occurring in the ovaries of phenotypically and cytogenetically normal menstruating women. One of the two cases showed an area composed of granulosa cell tumor-like elements. This type of combination has been very rarely described, and exemplified that gonadoblastoma may progress to sex cord-stromal tumors as well as to the malignant germ cell tumors.
Disorders of Sex Development ; Dysgerminoma* ; Female ; Germ Cells ; Gonadal Dysgenesis, Mixed ; Gonadoblastoma* ; Gonads ; Granulosa Cells ; Humans ; Karyotype* ; Male ; Neoplasms, Germ Cell and Embryonal ; Ovary ; Sertoli Cells ; Sex Cord-Gonadal Stromal Tumors ; Y Chromosome

PURPOSE: Chromosomal abnormality is the major cause of male infertility. We evaluated the usefulness of chromosome analysis for searching the etiology of male infertility. MATERIALS AND METHODS: Karyotypes of 375 cases with male infertility except postvasectomy infertility were analyzed. The comparison between sexchromosomal abnormality and autosomal abnormality in various clinical parameters, serum hormonal levels and sperm density was done. RESULTS: Of 375 cases, 57 cases(15.2%) of chromosomal abnormalities were found, consisting of 42 cases(73.7%) of sex chromosomal abnormality(38 Klinefelter's syndrome with mosaicism, 1 sex reverse syndrome, 1 true hermaphroditism, 1 Y chromosome deletion, and 1 sex-chromosome translocation with autosome), 13 cases(22.8%) of autosomal abnormality(7 translocation and 6 inversion) and 2 cases(3.5%) of normal variant. Of various clinical parameters and serum hormonal levels, only testicular volume and serum testosterone level revealed significant statistical difference between sex chromosomal and autosomal abnormality. CONCLUSIONS: We suggest that the chromosomal analysis should be the first line aid in searching etiology of the male infertility.
Chromosome Aberrations* ; Humans ; Infertility ; Infertility, Male* ; Karyotype ; Klinefelter Syndrome ; Male ; Male* ; Mosaicism ; Ovotesticular Disorders of Sex Development ; Spermatozoa ; Testosterone ; Y Chromosome

OBJECTIVETo observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.

METHODSWe analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype Klinefelter syndrome and his parents. We identified 9 sequence tagged sites (STS) by multiplex PCR: sY84, sY86, sY127, sY129, sY134, sY254, sY255, sY242, and sY152. Meanwhile we detected the SRYgene and the microdeletion of AZF using ZFX/ZFY as the internal control gene.

RESULTSThe karyotype of the patient was 46,XY (12%)/47,XXY (30%)/48,XXYY (56%)/49,XXXXY (2%). The karyotypes of his parents were normal. Consistency was found between the SRY gene and the chromosome gender in the patient and his parents. Y chromosome AZF microdeletion was observed in the patient. The deletion sites were sY86 and sY127, and the deletion type was AZFa + AZFb.

CONCLUSIONAZF microdeletion of the Y chromosome exists in patients with Klinefelter syndrome. Chromosome karyotype and Y-chromosome AZF microdeletion are important criteria for the genetic diagnosis of Klinefelter syndrome.

Chimerism ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Cytogenetics ; Humans ; Infertility, Male ; Karyotyping ; Klinefelter Syndrome ; genetics ; Male ; Sequence Tagged Sites ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult