• Journal of Genetic Medicine
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• v.13 no.2
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

• Genomics & Informatics
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• v.2 no.1
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• pp.30-35
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• 2004

To investigate the XIST gene expression and its effect in a Klinefelter's patient, we used Klinefelter's syndrome (XXY) patient with azoospermia and also used a normal male (XY) and a normal female (XX) as the control, We were performed cytogenetic analysis, Y chromosomal microdeletion assay (Yq), semi-quantitative RT-PCR, and the Northern blot for Klinefelter's syndrome (KS) patient, a female and a male control, We extracted total RNA from the KS patient, and from the normal cells of the female and male control subjects using the RNA prep kit (Qiagen), cDNA microarray contained 218 human X chromosome-specific genes was fabricated. Each total RNA was reverse transcribed to the first strand cDNA and was labeled with Cy-3 and Cy-5 fluorescein, The microarray was scanned by ScanArray 4000XL system. XIST transcripts were detected from the Klinefelters patient and the female by RT-PCR and Northern blot analysis, but not from the normal male, In the cDNA microarray experiment, we found 24 genes and 14 genes are highly expressed in KS more than the normal male and females, respectively. We concluded that highly expressed genes in KS may be a resulted of the abnormal X inactivation mechanism.

• Clinical and Experimental Reproductive Medicine
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• v.24 no.2
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• pp.273-277
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• 1997

This case report describes the pregnancy following the transfer of cryopreserved embryos generated from intracytoplasmic sperm injection (ICSI) using frozen-thawed sperm obtained by microepididymal sperm aspiration (MESA) in patient with congenital absence of the vas deferens (CAVD).

• Clinical and Experimental Reproductive Medicine
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• v.50 no.4
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• pp.230-243
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• 2023

Objective: High temperatures can trigger cellular oxidative stress and disrupt spermatogenesis, potentially leading to male infertility. We investigated the effects of retinoic acid (RA), chitosan nanoparticles (CHNPs), and retinoic acid loaded with chitosan nanoparticles (RACHNPs) on spermatogenesis in mice induced by scrotal hyperthermia (Hyp). Methods: Thirty mice (weighing 25 to 30 g) were divided into five experimental groups of six mice each. The groups were as follows: control, Hyp induced by a water bath (43 ℃C for 30 minutes/day for 5 weeks), Hyp+RA (2 mg/kg/day), Hyp+CHNPs (2 mg/kg/72 hours), and Hyp+RACHNPs (4 mg/kg/72 hours). The mice were treated for 35 days. After the experimental treatments, the animals were euthanized. Sperm samples were collected for analysis of sperm parameters, and blood serum was isolated for testosterone measurement. Testis samples were also collected for histopathology assessment, reactive oxygen species (ROS) evaluation, and RNA extraction, which was done to compare the expression levels of the bax, bcl2, p53, Fas, and FasL genes among groups. Additionally, immunohistochemical staining was performed. Results: Treatment with RACHNPs significantly increased stereological parameters such as testicular volume, seminiferous tubule length, and testicular cell count. Additionally, it increased testosterone concentration and improved sperm parameters. We observed significant decreases in ROS production and caspase-3 immunostaining in the RACHNP group. Moreover, the expression levels of bax, p53, Fas, and FasL significantly decreased in the groups treated with RACHNPs and RA. Conclusion: RACHNPs can be considered a potent antioxidative and antiapoptotic agent for therapeutic strategies in reproductive and regenerative medicine.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.2
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• pp.155-160
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• 2001

Objective: ICSI with testicular sperm could achieve optimal fertilization and pregnancy. This study was performed to observe the influence on fertilization and pregnancy of motility of fresh testicular sperm and sperm extracted from frozen-thawed seminiferous tubules in obstructive azoospermia. Materials and Methods: We analysed clinical outcome of ICSI using fresh testicular sperm and sperm extracted from thawed seminiferous tubules. The presence of motility were compared to determine the factor for optimal fertilization and pregnancy rates. Results: In 316 cases of TESE-ICSI in obstructive azoospermia, ICSI with fresh testicular sperm (fresh sperm group) were 163 cases and ICSI with sperm testicular sperm extracted from frozen-thawed seminiferous tubule (thawed sperm group) were 153 cases. The fertilization rates were 71.3% and pregnancy rates were 32.5% in fresh sperm group, in thawed sperm group, 65.1% and 33.3% respectively. The fertilization and pregnancy rates of motile and non-motile testicular sperm were 72.9% and 33.6%, 50.0% and 18.2%, respectively (p<0.05). The fertilization and pregnancy rates of motile and non-motile sperm extracted from the thawed seminiferous tubule were 67.8% and 34.7%, 55.1% and 28.1%, respectively (p<0.05). The comparative of the results of ICSI using motile fresh testicular sperm and motile sperm extracted from thawed seminiferous tubule, fertilization and pregnancy rates were not significantly different (72.9% and 33.6%, 67.8% and 34.7%, respectively). Conclusion: These results suggest that successful pregnancy in TESE-ICSI treatment is influenced by the motility of fresh testicular sperm and sperm extracted from thawed seminiferous tubule in obstructive azoospennic patients.

• Clinical and Experimental Reproductive Medicine
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• v.12 no.1
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• pp.47-70
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• 1985

This study was presented of the 1,872 cases of infertile couples who visited and examined at the sterility clinic of Department of Obstetrics & Gynecology, Seoul National University Hospital from Sept., 1980 to Dec., 1983. Age, duration of infertility, past medical history, and other general factors were analyzed, and the factors responsible for infertility were classified and discussed. Mode of treatment, outcome of pregnancy, pregnancy rate responsible for each factor were also presented. The results were as follows: 1) The infertility was primary in 1,128, or 60.3% and secondary in 744, or 39.7%. 2) The age between 26 and 30 years of age comprised about one half of the total patients. 3) The duration of infertility between 1 and 4 years comprised about three quarters of the total patients, and the mean duration was 3.8 years. 4) The most common medical history in primary infertility was tuberculous disease, and that in secondary infertility was history of previous laparotomy. 5) About two thirds of antecedent pregnancies were abortion. 6) The major etiologic factor of infertility were male factor in 12.3%, tubal factor in 38.8%, ovulatory failure in 25.4%, uterine factor in 8.8%, cervical factor in 5.2%, peritoneal factor in 9.5%, and no demonstrable cause in 11.3%. 7) The types of male factor were azoospermia in 61.6%, oligospermia in 25.8%, low motility in 11.6%, and other abnormality in 1.0%. 8) The types of ovulatory failure were ovarian failure in 7.4%, hypothalamo-pituitary failure in 8.1 %, hypothalamo-pituitary dysfunction (including Polycystic ovarian syndrome) in 30.2%, and hyperprolactinemia in 22.4%. 9) The types of uterine factor were endometrial tuberculosis in 27.5%, uterine synechia in 33.8%, uterine anomaly in 19.7%, myoma and polyp in 9.1 %, and luteal phase defect in 9.9%. 10) The types of peritoneal factor were pelvic adhesion in 80.9% and endometriosis in 19.6%. 11) Surgeries were done in 408 patients, and they were salpingolysis, lysis of extraadnexal adhesion, salpingostomy, fimbrioplasty, ovarian wedge resection for polycystic ovarian disease, tubo-tubal anastomosis, and tubo-uterine implantation in orders. 12) 243 pregnancies were achieved during the infertility work-up, of which livebirth was 46.5%, ectopic pregnancy was 7.4%, spontaneous abortion was 7.8%, and on-going pregnancy or lost to follow-up was 36.2%. 13) Pregnancy rates in various factors were male factor in 18.7%, ovulatory factor in 31.7%, tubal factor in 24.2%, uterine factor in 34.6%, cervical factor in 19.0%, peritoneal factor in 29.0%, combined factors in 10.5%, and unexplained infertility in 37.1%. Pregnancy rate in whole patients was 25.2%.

• Journal of Genetic Medicine
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• v.2 no.1
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• pp.11-15
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• 1998

This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

• Environmental Analysis Health and Toxicology
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• v.15 no.4
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• pp.123-130
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• 2000

2-Bromopropane, important industrial chemical, specially in electronic industry at Yangsan in Korea has been reported to cause amenorrhea for female and azoospermia, oligozoospermia or reduced sperm motility for male. 2-BP was investigated through 21 days of repeated dose in male Sprague-Dawley rats. The dose levels per body weight were 0 (control), 250,500 and 1,000 mg/kg. 2-BP dissolved in vehicle olive oil was injected into the intraperitoneum 6 times per week for 3 weeks, but 1,000 mg/kg dose group was 2 weeks because of serious illness. Male rats showed significant decreases in body weight and right and left testis showed typical weight losses depending on the 2-BP. The number of white blood cell and red blood cell , percentage of monocytes, and hemoglobin decreased significantly in high dose (P< 0.05). Red cell volume distribution width increased significantly in the high dose (P< 0.05). Histopathological findings of testes showed a decrease of spermatogenic cells, exfoliation of spermatid and spermatocyte, vacuolization of Sertoli cells and hyperplasia of Leydig cells. Protein band density between 113,000 dalton ($\beta$-galactosidase) and 53,900 dalton (ovalbumin) has decreased in 250 mg/kg dose group, but it has gradually increased to the higher density in 1,000 mg/kg dose group than in control group.

• Tuberculosis and Respiratory Diseases
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• v.43 no.6
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• pp.1035-1041
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• 1996

Klinefelter's syndrome is characterized by small testes, azoospermia, gynecomastia, and elevated levels of plasma gonadotropins in men with two or more X chromosomes. Previous investigators reponed that patients with Klinefelter's syndrome are predisposed to the development of a non-seminomatous germ cell tumor in the mediastinum. It is suggested that this linkage may be due to the hormonal imbalance in Klinefelter's syndrome and consequently, the formation of dysgenetic germ cell and/or abnomal migration of germ cell We report here a case of Klinefelter's syndrome in a 24-years-old man who was presented with anterior mediastinal mass. The clinical and laborarotory fmdings were compatible with Klinefelter's syndrome and he was found to have 47 XXY karyotype. Pathological findings for mediastinal mass revealed mixed germ cell tumor composed of mature cystic teraloma and endodermal sinus rumor. He was treated with cis platin containing chemotherapy and followed up in partial remission.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.4
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• pp.325-331
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• 2003

Objective: To investigate the association of genetic background between MTHFR A1298C genotype and male infertility. Materials and Methods: We compared 377 infertile males with 396 healthy fertile males with one or more offspring. Infertile males were classified into four subtypes (281 azoospermia, 26 oligoasthenoteratozoospermia (OAT), 59 severe OAT and 11 remnants) by World Health Organization (WHO). Pyrosequencing analysis for MTHFR (methylenetetrahydrofolatereductase) A1298C variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of A1298C variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR A1298C genotype. Results: We studied MTHFR A1298C variation by pyrosequencing. A1298C variation data (1298 AC; p=0.2166 and 1298 CC; p=0.5056) of MTHFR gene was no significant difference in between fertile and infertile males. Conclusion: The genetic analysis in MTHFR gene didn't appear genetic difference in Korean fertile and infertile males. We require further study for MTHFR gene in infertile males.