Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes
- H.G.M. Ssa. Facultad de Medicina (Mexico); and others
True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Muellerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non-South African 46,XX true hermaphrodites may be SRY positive. 51 refs., 3 figs., 2 tabs.
- OSTI ID:
- 539188
- Journal Information:
- American Journal of Medical Genetics, Vol. 63, Issue 2; Other Information: PBD: 17 May 1996
- Country of Publication:
- United States
- Language:
- English
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BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
UROGENITAL SYSTEM DISEASES
PHENOTYPE
KARYOTYPE
CONGENITAL MALFORMATIONS
HETEROCHROMOSOMES
CHROMOSOMAL ABERRATIONS
MOSAICISM
DNA SEQUENCING
GENETIC MAPPING
GENES
POLYMERASE CHAIN REACTION
ELECTROPHORESIS
CENTROMERES
GONADS
ENDOCRINE GLANDS
DNA HYBRIDIZATION
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