Ovotesticular disorder of sexual development due to gonosomal mosaicism

Raĭgorodskaia N.Iu.; Morozov D.A.; Chernykh V.B.; Bolotova N.V.; Zharkov D.A.; Shilova N.V.; Zolotukhina T.V.; Tsmokaliuk E.N.

doi:https://doi.org/

Raĭgorodskaia N.Iu.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Morozov D.A.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Chernykh V.B.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Bolotova N.V.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Zharkov D.A.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Shilova N.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Zolotukhina T.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Tsmokaliuk E.N.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Ovotesticular disorder of sexual development due to gonosomal mosaicism

Authors:

Raĭgorodskaia N.Iu., Morozov D.A., Chernykh V.B., Bolotova N.V., Zharkov D.A., Shilova N.V., Zolotukhina T.V., Tsmokaliuk E.N.

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Journal: Problems of Endocrinology. 2010;56(2): 42‑46

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Raĭgorodskaia NIu, Morozov DA, Chernykh VB, et al. Ovotesticular disorder of sexual development due to gonosomal mosaicism. Problems of Endocrinology. 2010;56(2):42‑46. (In Russ.)

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Abstract:

This paper describes diagnosis and surgical treatment of a 3.5 year-old child who presented with abnormal sex differentiation resulting in the development of gonads into ovotestes. This disorder was provoked by a rare variant of mosaicism involving sex chromosome and characterized by the presence of an irregular marker chromosome. Additional genetic analysis allowed its origin to be determined: it was identified as Yp chromosome. Comprehensive examination yielded criteria for the choice of sexual identity and provided a basis for the surgical treatment in conformity with the gender being sought.

Keywords:

true germaphroditism

ovotestis

mosaicism

sex chromosomes (gonosomes)

Authors:

Raĭgorodskaia N.Iu.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Morozov D.A.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Chernykh V.B.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Bolotova N.V.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Zharkov D.A.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

Shilova N.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Zolotukhina T.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Tsmokaliuk E.N.

Saratovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. V.I. Razumovskogo Roszdrava, NII fundamental'noĭ i klinicheskoĭ uronefrologii Saratovskogo GMU

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References:

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