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

Lee GM, Ko JM, Shin CH, Yang SW

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...
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A case of SRY Negative 46, XX Male Syndrome with Deletion on Long Arm of X Chromosome

Lee JW, Hong CH, Kim HR, Sin JB

  • KMID: 2280592
  • Korean J Perinatol.
  • 2006 Sep;17(3):353-358.
46,XX male sex reversal syndrome is, also called the de la Chapelle syndrome, a rare cause of abnormal sex determination with an incidence of 1 in 20,000~25,000 male neonates. The...
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A case of XX male syndrome

Choi HS, Hong JW, Jo EJ, Shin SJ, Choi SH

  • KMID: 1913067
  • Korean J Urol.
  • 1991 Apr;32(2):357-360.
The 46, XX male or sex-reversal syndrome is a rare entity, which may be reported first by de la Chapelle and associates in 1964, an additional 135 cases have been...
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XX-Male Syndrome: A Case Report

Chung YK, Kim KS, Chang SI

  • KMID: 1764258
  • Korean J Urol.
  • 1986 Oct;27(5):779-782.
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...
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A Case of 46 XX Male Syndrome

Lee JM, Shim MS, Kim YU, Shin YG, Chung CH

  • KMID: 2331166
  • J Korean Soc Endocrinol.
  • 2001 Feb;16(1):148-152.
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...
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A Case of XX Male Syndrome with Anophthamia

Jeong JT, Lee KJ, Lee R, Lee ES, Hyun JH, Jung GY, Choi HS

  • KMID: 1838677
  • J Korean Soc Neonatol.
  • 2001 May;8(1):175-179.
XX male has a male phenotype with testes or gonads of testicular type and a female chromosomal constitution of 46, XX with no evidence of either ovarian tissue or female...
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XX Male Syndrome

Kim CS, Lee SK, Lee HY

  • KMID: 1764259
  • Korean J Urol.
  • 1986 Oct;27(5):783-785.
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...
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