A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY |
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| Authors: | Ken McElreavey Raphaël Rappaport Eric Vilain Nacer Abbas François Richaud Stéphen Lortat-Jacob Roland Berger Maryvonne LeConiat Chafika Boucekkine Kiran Kucheria Samia Temtamy Claire Nihoul-Fekete Raja Brauner Marc Fellous |
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| Institution: | (1) Immunogénétique Humaine, Institut Pasteur, 25, Rue du Dr. Roux, F-75015 Paris, France;(2) Hôpital des Enfants Malades, 149, Rue de Sèvres, F-75015 Paris, France;(3) Unité INSERM U301, Institut de génétique moléculaire, Paris, France;(4) Service d'Endocrinologie, Hôpital des Bains Romains, Alger, Algéria;(5) All India Institute of Medical Sciences, 110029 New Dehli, India;(6) NRC, Tahrir Street Dokki, Cairo, Egypt |
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| Abstract: | Summary A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. |
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