OBJECTIVE: The aim of this study was to compare the efficacy of swim-up and density gradient centrifugation (DGC) for reducing the amount of sperm with fragmented DNA, sex chromosome aneuploidy, and abnormal chromatin structure. METHODS: Semen samples were obtained from 18 healthy male partners who attended infertility clinics for infertility investigations and were processed with swim-up and DGC. The percentages of sperm cells with fragmented DNA measured by the sperm chromatin dispersion test, normal sex chromosomes assessed by fluorescence in situ hybridization, and abnormal chromatin structure identified by toluidine blue staining were examined. RESULTS: The percentage of sperm cells with fragmented DNA was significantly lower in the swim-up fraction (9.7%, p=0.001) than in the unprocessed fraction (27.0%), but not in the DGC fraction (27.8%, p=0.098). The percentage of sperm cells with normal X or Y chromosomes was comparable in the three fractions. The percentage of sperm cells with abnormal chromatin structure significantly decreased after DGC (from 15.7% to 10.3%, p=0.002). The swim-up method also tended to reduce the percentage of sperm cells with abnormal chromatin structure, but the difference was not significant (from 15.7% to 11.6%, p=0.316). CONCLUSION: The swim-up method is superior for enriching genetically competent sperm.
Aneuploidy* ; Centrifugation, Density Gradient* ; Chromatin ; DNA Fragmentation* ; DNA* ; Fluorescence ; Humans ; In Situ Hybridization ; Infertility ; Male ; Methods ; Semen ; Sex Chromosomes* ; Spermatozoa* ; Tolonium Chloride ; Y Chromosome

Testicular feminization is an uncommon genetic disorder with considerably familial predisposition and results in total feminization due to end-organ unresponsiveness to androgens. It is characterized by the presence of testes in phenotypically female with adequate breast development, normal extemal genitalia, absence of mullerian structures, and meager or absence of body hair. These patients characteristically have male karyotype(XY) and negative sex chromatin and are at increased risk of undergoing malignant transformation of the undescended gonad. In recent times, the malignant potential of the dysgenetic gonads in the intersex patients with a Y chromosome has been stressed by many authors, but few reports of an association between testicular feminization syndrome and benign tumors such as Sertoli cell adenomas. In the present study, postoperative pathology revealed that the gonads were Sertoli cell adenomas. The main features of clinical presentation and histological studies are briefly discussed with a review of the literature.
Adenoma* ; Androgen-Insensitivity Syndrome* ; Androgens ; Breast ; Female ; Feminization ; Genitalia ; Gonads ; Hair ; Humans ; Male ; Pathology ; Sex Chromatin ; Testis ; Y Chromosome

The criteria for the identification of sex are as follows; sex chromosome and chromatin, gonadal structure, morphology of the external genitalia, morphology of the internal genitalia, hormonal status, sex of rearing and gender role. During these steps, any disturbance may be presented clinically as a disorder of intersexuality. Hermaphroditism is a state of having ambiguous genitalia due to abnormal sexual differentiation. We experienced three children with ambiguous external genitalia. Two patients were male pseudohemaphrodites, who had a normal male chromosomal constitution of 46XY with incomplete masculinization of the external genitalia and hypospadia. One patient was female pseudohemaphrodite, who had a normal female chromosomal constitution of 46XX with male phallus-like enlarged clitoris associated with posterior labial fusion and single perineal urogenital orifice. There was elevated urinary 17 ketosteriod and hypertrophied adrenal gland on CT scan. We planned staged reconstruction because they were children. First stage reconstruction were surgical restoration of the ambiguous external genitalia to normal appearance and removal of contradictory gonadal structure as early as possible. Second stage reconstruction includes reconstruction of secondary sex characteristics after puberty such as mammaplasty, vaginoplasty, and facial plasty. Hormonal therapy was necessary for normalization of hormonal status and promotion of expression of secondary sex characteristics. In first stage reconstruction, we performed clitoroplasty by use of glans penis island flap with dorsal neurovascular bundle, labioplasty and orchiectomy in two male hermaphroites. All neoclitoris survived well with good preservation of sensation.
Adolescent ; Adrenal Glands ; Child* ; Chromatin ; Clitoris ; Constitution and Bylaws ; Disorders of Sex Development ; Female ; Gender Identity ; Genitalia* ; Gonads ; Humans ; Hypospadias ; Male ; Mammaplasty ; Orchiectomy ; Penis ; Puberty ; Sensation ; Sex Characteristics ; Sex Chromosomes ; Sex Differentiation ; Tomography, X-Ray Computed

True hermaphroditism is one of the rare congenital anomalies. Additional four cases of this anomaly are added to the 2 cases which were reported previously from the Dept. of Urology, Busan National University Hospital. Clinical review was performed about these 6 cases. The results were as follows; 1. The incidence of true hermaphroditism is 0.17% in 3,456 uro1ogicaladnrissions from Jan. 1964 to Mar. 1982, 1.6% in 380 admissions with congenital anomalies of the external genitalia and 25% in 24 admissions with hypospadias and cryptorchism during this period. 2. Hypospadias and cryptorchisrn are found in 6 cases, bifid scrotum 3 cases, and labioscrotal folds in 2 cases. Roentgenograms of retrograde urethrography were available in 4 cases and revealed blind vaginal pouch in 3 cases. Among these 3 cases, one had patent fallopian tube at the cephalad end of the pouch. The other one had well developed vagina and the uterus with patent fallopian tube. 3. The genital ducts were developed ipsilaterally in 9 gonads composed of pure testicular or ovarian tissues but developed to those of male pattern in 3 gonads containing the ovarian and testicular tissues. Among these 3 cases two cases did not have the vas deferens. 4. Of 6 gonads containing the testicular tissues, two were in the scrotum, 2 in inguinal and remained 2 were in the peritoneal cavity. Of gonads containing the ovarian tissues, seven were in the peritoneal cavity and one in the retroperitoneum. 5. Sex chromatin was positive in 3 cases, negative in 3 cases. 6. Of 5 cases who had been reared as male, two were assigned to female, one to male and remained 2 were not decided the sex. The other who had been reared as female was assigned to female. 7. The type of true hermaphroditism is lateral in 3 cases (Type I)and unilateral in 3 cases (Type IIIb 2 cases, Type IIIa I case)by the classification of Jones and Scott.
Busan ; Classification ; Cryptorchidism ; Fallopian Tubes ; Female ; Genitalia ; Gonads ; Humans ; Hypospadias ; Incidence ; Male ; Ovotesticular Disorders of Sex Development* ; Peritoneal Cavity ; Scrotum ; Sex Chromatin ; Urology ; Uterus ; Vagina ; Vas Deferens

Klinefelter's syndrome was described in 1942 as a syndrome of hypogonadal men with small testes, gynecomastia and elevated urinary gonadotropin by Klinefelter et al. for the first time. As the pathogenesis has become better understood the original description has been expanded to include additional features. The presence of supernumerary X chromosome is considered to be the fundamental underlying etiological factor. The clinical triad of the Klinefelter`s syndrome are sterility, male phenotype, and small firm testes. Clinical observation and plasma testosterone, FSH(follicle stimulating hormone), LH(luteinizing hormones measurement were made on the 11 Klinefelter`s syndromes in the Department of Urology, Seoul National University Hospital as follows: 1. The age distribution was from l9 years old to 33 years old and the average span was 28 years old. 2. A11 of the patients had small and firm testes, and showed decreased pubic hair and sparse body hair. Gynecomastia occurred in 5 patients(48%). 3. The average height was 169.3cm and average span was 170. 1 cm and average lower leg length 96.3 cm 4. The chromosomal study showed 47 XXY in the all patients and sex chromatin was positive in the all patients. 5. All of the patients was azoospermia on the semen analysis. 6. Histological structures of the testes were hyalinization with fibrosis of the seminiferous tubule and psuedoadenomatous clumping of the Leydig cell. 7. The average level of plasma testosterone, FSH, LH were 184 ng/d1(range 80-349 ng/d1) 35.25 mI U/ml(range 27-43.3mI U/ml), 14.5mI U/ml(range 7.6-26.52mI U/ ml). 8. Treatment of the patients was hormonal therapy with testosterone.
Adult ; Age Distribution ; Azoospermia ; Fibrosis ; Gonadotropins ; Gynecomastia ; Hair ; Humans ; Hyalin ; Infertility, Male ; Klinefelter Syndrome* ; Leg ; Male ; Phenotype ; Plasma ; Semen Analysis ; Seminiferous Tubules ; Seoul ; Sex Chromatin ; Testis ; Testosterone ; Urology ; X Chromosome

A 5 year old girl was visited with the chief complaint of abnormal genitalia from birth. Physical examination revealed enlarged clitoris, urogenital sinus formation, increased urinary 17-ketosteroid, Jailer's test positive and sex chromatin positive. Diagnosis was made congenital adrenogenital syndrome.
Adrenogenital Syndrome* ; Child, Preschool ; Clitoris ; Diagnosis ; Female ; Genitalia ; Humans ; Parturition ; Physical Examination ; Sex Chromatin

A study was made on the two cases of Klinefelter's Syndrome with review of literature. Two cases revealed findings of characteristics of Kiinefelter's Syndrome such as small testes, atrophy of seminiferous tubules, azoospermia, increased urinary gonadotropin, decreased urinary 17 Ketosteroid, positive Sex Chromatin, gynecomstia and impotence.
Atrophy ; Azoospermia ; Erectile Dysfunction ; Gonadotropins ; Klinefelter Syndrome* ; Male ; Seminiferous Tubules ; Sex Chromatin ; Testis

Additional two cases of Klinefelter's syndrome with a literatural review was presented Two cases were revealed characteristics of Klinefelter's syndrome such as small testes, hyalinization of seminiferous tubules, azoospermia, increased FSH, normal 17-ketogteroid and positive sex chromatin. One case was associated with left inguinal crytorchidism.
Azoospermia ; Hyalin ; Klinefelter Syndrome* ; Seminiferous Tubules ; Sex Chromatin ; Testis

A study was made on the two cases of Klinefelter's Syndrome with review of literatures Two cases revealed findings characteristic of Klinefelter's Syndrome suck as small testes, hyalinization of seminiferous tubules. azoospermia, increased urinary gonadotropin, decreased urinary 17-ketosteroid, positive sex chromatin, gynecomastia and impotence.
Azoospermia ; Erectile Dysfunction ; Gonadotropins ; Gynecomastia ; Hyalin ; Klinefelter Syndrome* ; Male ; Seminiferous Tubules ; Sex Chromatin ; Testis

In recent years active research on sexual anomalies, especially on the conditionsof intersex is rapidly progressing. It is not until Barr et al, have clarifiedthe epochmaking discovery of sex chromosome test that the concept of chromosomalintersex was firmly established. Reported here are 6 cases of intersex admittedto the Department of Urology, Seoul National University Hospital. Aceerding tothe results of observation on the sex chromatin. external or internal genitalia,in some, hormonal balance, utilizing various methods of urological examination, 6 cases of intersex have been confirmed. These patients consist of 1 case of truehermaphroditism, 2 cases of male pseudohermaphroditism. 2 cases of femalepseudohermaphroditism with congenital adrenogenital syndrome and one case ofKinefelter's syndrome. In summary the first case of true hermspbroditismapparently looked like a hypospadiac male with atrophied testis as gonad but afterpuberty the ovarian activity became manifest and gynecomastia developed. Therefore is out of the question that this case is a true hermaprodite possessing bothtestis and ovary. Considering this patient's sex of rearing, correction of hypospadia was performed. This patient leads his social life by virtue oftestosterone supply. The second case is a male pseudohermaphroditism patientconfirmed by exploratory laparotomy which revealed degenerative change of femalegonads and reproductive organ. However, the active gonad was testis andaccordingly it is apparent that this is a male pseudohermaphroditism case. Thispatient had the hope to live as a female. Therefore according to the patient's own wish, hypospadia correction plus phallectomy and vaginoplasty were performedand was feminized. Estrogen therapy has been received, but masculinizing symptomsare still present. The 3rd case had severe hypospadia with cryptorchism. Theexternal appearance, however, was like that of a female. Laparotomy revealed no gonads or reproductive organ. Biopsy revealed atrophic testis. Therefore thediagnosis of sale pseudohermaphroditism was made. This child was performedhypospadia correction and was decided to be reared as a male. The 4th case afirmly established adrenogenital syndrome patient, has received clitoridectomyand cortisone therapy was indicated and is under observation. The 5th case alsois a child with adrenogenital syndrome. Bilateral partial adrenalectomy wasperformed and simultaneously cortisone therapy was continued. However, clinical manifestations of Cushing's syndrome appeared because of overdosage of cortisone. In this case, clitoridectomy and vaginoplasty were performed. The 6th patient was a chromosomal intersex. Chromosomal test was positive and large gynecomastia was present. Testicular biopsies revealed characteristic findings of the Klinefelter's syndrome. There were hyalinzed seminiferous tubules, hypertrophy of the basement membrane, and an increased number of interstitial cells appearing in clumps. Testosterone therapy was performed to correct mental symptoms and decreased libido. Gynecomastia is to be removed surgically. It is important on the diagnosis of intersex to confirm the existence of urogenital sinus. Urogenital sinus was present in 4 of our cases. As with 2nd case, adaptability of patients with intersex will be more secure to make the social sex as a female than to make it as a male. Recent related literatures were reviewed.
46, XY Disorders of Sex Development ; Adrenalectomy ; Adrenogenital Syndrome ; Basement Membrane ; Biopsy ; Child ; Circumcision, Female ; Commerce ; Cortisone ; Cryptorchidism ; Cushing Syndrome ; Diagnosis ; Disorders of Sex Development ; Estrogens ; Female ; Gonads ; Gynecomastia ; Hope ; Humans ; Hypertrophy ; Hypospadias ; Klinefelter Syndrome ; Laparotomy ; Libido ; Male ; Ovary ; Seminiferous Tubules ; Seoul ; Sex Chromatin ; Sex Chromosomes ; Testis ; Testosterone ; Urology ; Virtues