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Clinical Management Issues in Males with Sex Chromosomal Mosaicism and Discordant Phenotype/Sex Chromosomal Patterns

213 University Hospital School, The University of Iowa Hospitals and Clinics, Iowa City, IA 52242

James W. Hanson

Division of Medical Genetics, Department of Pediatrics, The University of Iowa

Jay W. Moore

Division of Medical Genetics, Department of Pediatrics, The University of Iowa

Shivanand R. Patil

Division of Medical Genetics, Department of Pediatrics, The University of Iowa

Charles E. Hawtrey

Division of Pediatric Urology, Department of Urology, The University of Iowa

James R. Hansen

Division of Pediatric Endocrinology, Department of Pediatrics, The University of Iowa

The recent availability of Y DNA probes has made it possible to identify two forms of 46,XX male syndrome: Y DNA positive and Y DNA negative. The Y DNA positive male results from a X;Y translocation with a low recurrence risk; the Y DNA negative males are due to a mutation with a high recurrence risk. 46,XX males and mosaic forms are phenotypically indistinguishable. A review of the case histories for 11 individuals indicates that affected males have highly variable genital and nongenital phenotypes. Physical findings may be clearly apparent or nonexistent. With the exception of external genitalia, the basis for this variability is unknown. It may be related to differences in Y chromatin expression as the result of variable inactivation of the X chromosomes, or to the existence of minor deletions or point mutations secondary to an exchange of genetic material. Common and uncommon clinical problems in these individuals require evaluation and follow-up care that is provided through a cooperative, interdisciplinary approach.

Clinical Pediatrics, Vol. 30, No. 1, 15-21 (1991)
DOI: 10.1177/000992289103000103


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