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Human Genetics

, Volume 84, Issue 2, pp 198–202 | Cite as

Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination

  • M. A. Ferguson-Smith
  • A. Cooke
  • N. A. Affara
  • E. Boyd
  • J. L. Tolmie
Short Communications

Summary

Clinical, chromosomal and molecular studies of a group of 15 XX males confirm the presence of two main groups. A Y+ve group of ten patients exhibit sex reversal as the result of transfer of the distal end of the short arm of the Y chromosome, including testis determining factors, to the short arm of one X-chromosome, presumably by accidental crossing-over in paternal meiosis. The ten patients have Klinefelter's syndrome but differ from XXY cases in that they are short and shown no impairment of intelligence. The four Y-ve XX males have no demonstrable Y sequences and differ from Y+ve cases in abnormality of the external genitalia and invariable gynaecomastia; in this, they more closely resemble XX true hermaphrodites than XY males. These observations on Y-ve XX males and an additional exceptional Y+ patient suggest that the ZFY locus is not essential for male differentiation and is not the primary testis determining factor. Male sex determination in sporadic, and familial Y-ve XX males and true hermaphrodites is likely to be the result of mutation in an X-linked TDF gene and its consequent escape from the constraints of X-inactivation. It seems premature to abandon the dosage model of sex determination on the recent evidence that ZFX does not show dosage compensation.

Keywords

Dosage Compensation External Genitalia Primary Testis Dosage Model Male Differentiation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • M. A. Ferguson-Smith
    • 1
  • A. Cooke
    • 2
  • N. A. Affara
    • 1
  • E. Boyd
    • 2
  • J. L. Tolmie
    • 2
  1. 1.Department of PathologyCambridge UniversityCambridgeUK
  2. 2.Duncan Guthrie Institute of Medical Genetics, University of GlasgowYorkhillUK

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