A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism

  title={A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism},
  author={Patricia A. Jacobs and J. A. Strong},
18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report
In women with KS and CAIS physiological reproduction and maintenance of normal sex, hormone levels are not possible and a gonadectomy is performed.
Klinefelter syndrome and fertility—Impact of X‐chromosomal inheritance on spermatogenesis
The maternal or paternal origin of the additional X‐chromosome in men with KS does not predict the presence or absence of spermatogenesis, and the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value.
[Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge].
Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.
Sex determination strategies in 2012: towards a common regulatory model?
This review summarizes current evidence from research in this hot field and signifies the need for further study of both normal hormonal regulators of sexual phenotype and patterns of environmental disruption.
The history of cytogenetics. Portraits of some pioneers.
The role of the X chromosome in embryonic and postnatal growth
Women born with only a single X chromosome (XO) have Turner syndrome; and they are invariably of short stature; and during the first three weeks of postnatal development, both XPO and XMO mice show a growth deficit when compared with XX littermates.
Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups
The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies, and further studies with a broader population should be considered to confirm these results.
Genetic and Hormonal Control of Bone Volume, Architecture, and Remodeling in XXY Mice
  • Peter Y. LiuR. Kalak C. Dunstan
  • Biology, Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2010
XXY mice replicate many features of human Klinefelter syndrome and therefore are a useful model for studying bone and do not explain the bone phenotype because testosterone‐replaced XXY mice show reduced bone volume despite similar blood testosterone levels.
Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating domain and 13 zinc fingers.
It is reported that, in contrast to the mouse Zfy genes, Zfx is widely transcribed in embryos, newborns, and adults, both male and female and contains long 3' untranslated sequences which are phylogenetically conserved.
Sex-specific differences in zebrafish brains
The zebrafish model could be appropriate for enhancing the understanding of brain sex differentiation and the signaling involved in neurological diseases and will help further enhance the diagnostic and pharmacological intervention of neurological diseases.


  • M. Kodani
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1957
Colour Vision Studies and the X-Chromosome Constitution of Patients with Klinefelter's Syndrome
Confirmation of the presence of two X-chromosomes in males with Klinefelter's syndrome and female nuclear sex and their presumptive ‘sex-reversal’ is reported.
A Morphological Distinction between Neurones of the Male and Female, and the Behaviour of the Nucleolar Satellite during Accelerated Nucleoprotein Synthesis
It appears not to be generally known that the sex of a somatic cell as highly differentiated as a neurone may be detected with no more elaborate equipment than a compound microscope following staining of the tissue by the routine Nissl method.