Cytogenetic and Genome Research

Novel Insights from Clinical Practice

Wimmer R. · Neumann U. · Weber A. · Isau M. · Renner-Luetzkendorf H. · Zschieschang P. · Wachter O. · Hirv K. · Stumm M.

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Article / Publication Details Abstract

Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex are atypical. Here, we report on monochorionic diamniotic twins delivered by Caesarean section in the 36th week of pregnancy. Monochorionic twins are usually monozygous and thus should have the same sexual differentiation. In this case, one twin had female external genitalia, while the other showed ambiguous genitalia. At first, a diagnosis of mixed gonadal dysgenesis was proposed because of the obvious sexual discrepancy between the supposedly monozygous twins. Cytogenetic analyses were performed to assure the sex chromosome status for both children. Male and female cells were found subsequently in both children. While hematopoietic chimerism of monochorionic dizygous twins as a result of twin-to-twin blood transfusion is a rare but already well documented phenomenon, to our knowledge this is the first case description of tetragametic chimerism that led to intersexuality.

S. Karger AG, Basel

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