The role of the sex-determining region Y gene in the etiology of 46,XX maleness

Patricia Y. Fechner, Sandra M. Marcantonio, Vikram Jaswaney, Gail Stetten, Peter N. Goodfellow, Claude J. Migeon, Kirby D. Smith, Gary Berkovitz, James A. Amrhein, Penny A. Bard, Peter A. Lee, Cheryl Reid, Eva Tsalikian, Maria D. Urban

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Abstract

The condition of 46,XX maleness is characterized by testicular development in subjects who have two X chromosomes but who lack a normal Y chromosome. Several etiologies have been proposed to explain 46,XX maleness: 1) translocation of the testis-determining factor from the Y to the X chromosome, 2) mutation in an autosomal or X chromosome gene which permits testicular determination in the absence of TDF, and 3) undetected mosaicism with a Y-bearing cell line. We evaluated 10 affected subjects who were ascertained for different reasons and who had several distinct phenotypes. Six subjects had inherited sequences from the short arm of the Y chromosome including the sex-determining region Y gene (SRY). Five of the subjects were pubertal at the time of evaluation and had a phenotype similar to that of Klinefelter syndrome with evidence of Sertoli cell and Leydig cell dysfunction. One subject had evidence from Southern blot analysis and in situ hybridization for the presence of an intact Y chromosome in approximately 1% of cells. Three subjects lacked Y sequences by Southern blot analysis and by polymerase chain reaction amplification of SRY. These subjects were ascertained in the newborn period because of congenital anomalies. One had multiple anomalies including cardiac abnormalities; one had cardiac anomalies alone; and one had ambiguous genitalia. Our data confirm the genetic heterogeneity of 46,XX maleness, is which some subjects have SRY while other subjects lack it. In addition, there is phenotypic heterogeneity among subjects who lack SRY suggesting that there is also genetic heterogeneity within this subgroup.

Original languageEnglish
Pages (from-to)690-695
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume76
Issue number3
StatePublished - Mar 1 1993
Externally publishedYes

Fingerprint

sry Genes
Chromosomes
Y Chromosome
Genes
Genetic Heterogeneity
X Chromosome
Southern Blotting
Sex-Determining Region Y Protein
Phenotype
Klinefelter Syndrome
Disorders of Sex Development
X-Linked Genes
Mosaicism
Chromosomes, Human, Pair 2
Leydig Cells
Sertoli Cells
Bearings (structural)
In Situ Hybridization
Polymerase chain reaction
Cell Line

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Fechner, P. Y., Marcantonio, S. M., Jaswaney, V., Stetten, G., Goodfellow, P. N., Migeon, C. J., ... Urban, M. D. (1993). The role of the sex-determining region Y gene in the etiology of 46,XX maleness. Journal of Clinical Endocrinology and Metabolism, 76(3), 690-695.

The role of the sex-determining region Y gene in the etiology of 46,XX maleness. / Fechner, Patricia Y.; Marcantonio, Sandra M.; Jaswaney, Vikram; Stetten, Gail; Goodfellow, Peter N.; Migeon, Claude J.; Smith, Kirby D.; Berkovitz, Gary; Amrhein, James A.; Bard, Penny A.; Lee, Peter A.; Reid, Cheryl; Tsalikian, Eva; Urban, Maria D.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 76, No. 3, 01.03.1993, p. 690-695.

Research output: Contribution to journalArticle

Fechner, PY, Marcantonio, SM, Jaswaney, V, Stetten, G, Goodfellow, PN, Migeon, CJ, Smith, KD, Berkovitz, G, Amrhein, JA, Bard, PA, Lee, PA, Reid, C, Tsalikian, E & Urban, MD 1993, 'The role of the sex-determining region Y gene in the etiology of 46,XX maleness', Journal of Clinical Endocrinology and Metabolism, vol. 76, no. 3, pp. 690-695.
Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ et al. The role of the sex-determining region Y gene in the etiology of 46,XX maleness. Journal of Clinical Endocrinology and Metabolism. 1993 Mar 1;76(3):690-695.
Fechner, Patricia Y. ; Marcantonio, Sandra M. ; Jaswaney, Vikram ; Stetten, Gail ; Goodfellow, Peter N. ; Migeon, Claude J. ; Smith, Kirby D. ; Berkovitz, Gary ; Amrhein, James A. ; Bard, Penny A. ; Lee, Peter A. ; Reid, Cheryl ; Tsalikian, Eva ; Urban, Maria D. / The role of the sex-determining region Y gene in the etiology of 46,XX maleness. In: Journal of Clinical Endocrinology and Metabolism. 1993 ; Vol. 76, No. 3. pp. 690-695.
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