A case of true hermaphroditism reveals an unusual mechanism of twinning

Souter, Vivienne L., Parisi, Melissa A., Nyholt, Dale R., Kapur, Raj P., Henders, Anjali K., Opheim, Kent E., Gunther, Daniel F., Mitchell, Michael E., Glass, Ian A., & Montgomery, Grant W. (2007) A case of true hermaphroditism reveals an unusual mechanism of twinning. Human Genetics, 121(2), pp. 179-185.

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Abstract

Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.

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26 citations in Scopus
25 citations in Web of Science®
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ID Code: 92149
Item Type: Journal Article
Refereed: Yes
Keywords: 17-alpha-Hydroxyprogesterone/blood, Chromosomes, Human, X, Chromosomes, Human, Y, Female, Fibroblasts/metabolism, Genetic Linkage, Genetic Markers, Genitalia, Humans, Infant, Newborn, Male, Ovotesticular Disorders of Sex Development/*genetics, Phenotype, Testosterone/blood, Twins/*genetics
DOI: 10.1007/s00439-006-0279-x
ISSN: 0340-6717
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2006 Springer-Verlag
Deposited On: 27 Jan 2016 22:36
Last Modified: 09 Feb 2016 01:20

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