• 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.

• Journal of Veterinary Clinics
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• v.29 no.5
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• pp.422-426
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• 2012

A 3-year-old Cocker spaniel was presented for evaluation because of a mass protruding from the vulva. This mass confirmed the presence of an internal bone in clitoris on the radiography. We recommended to the owner of the surgical removal of the gonads and uterus as well as the excision of the enlarged clitoris and os clitoris. The dog had gonads in the region of where the ovaries were located and presented what appeared to be a bicornate uterus and ductus deferens. Histological analysis revealed a morphologically normal uterus and two testes with their epididymis and ductus deferens. Karyotyping revealed a normal female chromosome constitution (78, XX), and polymerase chain reaction (PCR) identified the absence of Sry. Based on these findings, the patient was diagnosed with Sry-negative XX sex reversal.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.145-149
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• 2008

46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.

• 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.

• Journal of Aquaculture
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• v.13 no.4
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• pp.325-330
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• 2000

For development of all male seed production at hatchery scale, a comparative study was made on the seed production traits of supermale (IT - t) and superfemale (IT - L1 ~) Nile tilapia, Oreochromis niloticus. Supermales were crossed with normal females (XX- f) and the superfemales with normal males (XY - t ) or sex reversed males (XX- L1 t); progeny survival of these crossings and sex ratio were evaluated. Hatching success of the eggs, fertilized by the supermale was significantly lower than that by the normal male. Over 95-99 % progenies sired by crossing supermales with normal females were males, while 52-55 % progenies alone were males with the cross of normal males and normal females. Hatching success and survival of alevins were significantly higher for the progenies of the crosses between superfemales and sex reversed males than those resulting from the crosses between superfemales and normal males. However, there was no significant difference in the sex ratio among the progenies of these crosses. Therefore, crossings of superfemales with sex reversed males provide the highest percentage of survival and male progenies.

• Clinical and Experimental Reproductive Medicine
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• v.9 no.1_2
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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.

• Journal of Aquaculture
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• v.9 no.1
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• pp.101-106
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• 1996

Gynogenetic males induced from sex reversed female (${\Delta}XY$) were crossed with normal female (XX) for analysing their genotypes. The fish tested produced a high percentage of male progenies (93.3 to $100\%$) and were considered as supermales (YY). Superfemales (${\Delta}YY$) were also produced by combination of sex reversal and chromosome manipulation techniques. Superfemale fish can be produced approximetly $90\%$ of male when the fish were crossed with normal male. Chi-square values against an expected 1 : 1 (male : female) ratio were highly significant for both YY males${\times}$ normal females (P<0.01 or P<0.001) and ${\Delta}YY$ females${\times}$normal males (P<0.005 or P<0.001). All male progenies were produced consistently when crossed supermales (YY) with superfemales (${\Delta}YY$).