Genetic analysis of a case of 46, XX, SRY－ male syndrome / 中华男科学杂志

<p><b>Objective</b>To identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>We analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human CytoSNP-12 Beadchip array.</p><p><b>RESULTS</b>Negative results were found in the examination of the sex-determining region Y (SRY) gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46, XX. SNP array showed a 1.05 Mb 19p12 duplication and a 0.93 Mb Xq27.1 duplication.</p><p><b>CONCLUSIONS</b>The patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development.</p>

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

A Case of Molecular Analysis of XX Male Syndrome / 대한법의학회지

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.

A Case of 46 XX Male Syndrome / 대한내분비학회지

The 46, XX male syndrome is rare disease that is characterized by a phenotypic male who has a 46, XX female karyotype. Since the first report by de la Chapelle and associates in 1964, several cases have been reported, but it is still a rare entity. Recently we examined a 20-year-old XX male who had the symptoms of gynecomastia, an infantile appearance of the external genitalia, scanty pubic hair, no Adams apple, and no axillary hair. We presently describe a patient with the 46, XX male syndrome who showed a 46, XX karyotype on chromosomal study and review the literatures.

XX-Male Syndrome: A Case Report / 대한비뇨기과학회지

The XX-male or sex reversal syndrome is a rare entity, which a is phenotypic man with a 46, XX female karyotype. Since it was first reported by la Chapelle and associates in 1964, more than 150 XX males have been reported. Recently we experienced a 18-year-old XX-male with gynecomastia and hypospadias. Clinical, endocrinological and genetically studies were presented and theories regarding the etiology of the XX-male syndrome were discussed with review of literatures.

XX Male Syndrome / 대한비뇨기과학회지

A 30-year-old man with male phenotype visited our Infertility Clinic because of infertile marital life for 5 years. On physical examination, height was 162cm and body weight 52kg. Size of testis was 5 ml and that of penis, 6cm in length and 6cm in circumference. Distribution of pubic hair was sporadic and inverted triangle shape. No gynecomastia was obsessed. urogenital sinus or Mullerian duct system was not found in retrograde cystourethrography. Hormonal assay revealed that plasma FSH (46.6 IU/L) and LH (48.4 IU/L) were found to be elevated but testosterone (5.35 ng/ml) was within normal range. Prolactin level (21.1 ng/ml) was also normal. Repeated semen analyses showed that no sperm in 1.5-2.0 ml of ejaculates. Histology of testis revealed that hyalinization of seminiferous tubules and Leydig cell hyperplasia. Chromosomal analysis with peripheral blood revealed that 46XX by repeated analyses. This is first case report of XX male syndrome or sex reversal syndrome from Korea.