problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201056242-46problendo-4771Research ArticleСтатьиArticlesОвотестикулярное нарушение формирования пола вследствие гоносомного мозаицизмаOvotesticular disorder of sexual development due to gonosomal mosaicismRaĭgorodskaiaN Iu-MorozovD A-ChernykhV Bchernykh@med-gen.ruBolotovaN V-ZharkovD ADADAJ@yandex.ruShilovaN V-ZolotukhinaT V-TsmokaliukE N-201015042010562ТОМ 56, №2 (2010)4246Copyright © Raĭgorodskaia N.I., Morozov D.A., Chernykh V.B., Bolotova N.V., Zharkov D.A., Shilova N.V., Zolotukhina T.V., Tsmokaliuk E.N., 20102010Raĭgorodskaia N.I., Morozov D.A., Chernykh V.B., Bolotova N.V., Zharkov D.A., Shilova N.V., Zolotukhina T.V., Tsmokaliuk E.N.Raĭgorodskaia N.I., Morozov D.A., Chernykh V.B., Bolotova N.V., Zharkov D.A., Shilova N.V., Zolotukhina T.V., Tsmokaliuk E.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/4771

В статье приводится клинический пример диагностики и хирургического лечения нарушения формирования пола у ребенка 3,5 лет с развитием гонад по типу овотестис. Причиной овотестикулярного нарушения формирования пола явился редкий вариант мозаицизма половых хромосом, характеризующийся присутствием нерегулярной маркерной хромосомы. Дополнительное генетическое обследование позволило установить ее происхождение - изохромосома Yp. Комплексное обследование позволило выделить критерии выбора половой принадлежности и провести хирургическое лечение соответственно выбранному полу.

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.

истинный гермафродитизмовотестисмозаицизмполовые хромосомы (гоносомы)true germaphroditismovotestismosaicismsex chromosomes (gonosomes)ReferencesHasty L.A., Rock J.A. True hermaphroditism. In: E.Y. Adashi, J.A. Rock, Z. Rosenwaks (eds.). Reproductive Endocrinology, Surgery, and Technology. Philadelphia, Pa: Lippincott Williams & Wilkins 1996; 978-988.Hasty L.A., Rock J.A. True hermaphroditism. In: E.Y. Adashi, J.A. Rock, Z. Rosenwaks (eds.). Reproductive Endocrinology, Surgery, and Technology. Philadelphia, Pa: Lippincott Williams & Wilkins 1996; 978-988.Houk C.P., Hughes I.A., Ahmed F.S., Lee P.A. Consensus Statement on Management of Intersex Disorders. International Intersex Consensus Conference. Pediatrics 2006; 118: 2: 753-758.Houk C.P., Hughes I.A., Ahmed F.S., Lee P.A. Consensus Statement on Management of Intersex Disorders. International Intersex Consensus Conference. Pediatrics 2006; 118: 2: 753-758.Krob G., Braun A., Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediat 1994; 153: 1: 2-10.Krob G., Braun A., Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediat 1994; 153: 1: 2-10.Damiani D., Fellous M., McElreavey K. et al. True hermaphroditism: clinical aspects and molecular studies in 16 cases. Eur J Endocrinol 1997; 136: 2: 201-204.Damiani D., Fellous M., McElreavey K. et al. True hermaphroditism: clinical aspects and molecular studies in 16 cases. Eur J Endocrinol 1997; 136: 2: 201-204.Verkauskas G., Jaubert F., Lortat-Jacob S. et al. The long-term follow up of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. J Urol 2007; 177: 2: 726-731.Verkauskas G., Jaubert F., Lortat-Jacob S. et al. The long-term follow up of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. J Urol 2007; 177: 2: 726-731.Nihoul-Fékété C., Thibaud E., Lortat-Jacob S., Josso N. Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. J Urol 2006; 175: 5: 1878-1884.Nihoul-Fékété C., Thibaud E., Lortat-Jacob S., Josso N. Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. J Urol 2006; 175: 5: 1878-1884.Queipo G., Zenteno J.C., Peña R. et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002; 111: 3: 278-283.Queipo G., Zenteno J.C., Peña R. et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002; 111: 3: 278-283.McElreavey K., Rappaport R., Vilain E. et al. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 1992; 90: 1-2: 121-125.McElreavey K., Rappaport R., Vilain E. et al. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 1992; 90: 1-2: 121-125.Huang B., Wang S., Ning Y. et al. Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet 1999; 87: 4: 349-353.Huang B., Wang S., Ning Y. et al. Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet 1999; 87: 4: 349-353.Malavaud B., Mazerolles C., Bieth E. et al. Pure seminoma in a male phenotype 46,XX true hermaphrodite. J Urol 2000; 164: 1: 125-126.Malavaud B., Mazerolles C., Bieth E. et al. Pure seminoma in a male phenotype 46,XX true hermaphrodite. J Urol 2000; 164: 1: 125-126.Letterie G.S., Page D.C. Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA. Gynecol Oncol 1995; 57: 3: 423-425.Letterie G.S., Page D.C. Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA. Gynecol Oncol 1995; 57: 3: 423-425.Tsuchiya K., Reijo R., Page D.C., Disteche C.M. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995; 57: 6: 1400-1407.Tsuchiya K., Reijo R., Page D.C., Disteche C.M. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995; 57: 6: 1400-1407.Martin C.L., Ruble D.N., Szkrybalo J. Cognitive theories of early gender development. Psychol Bull 2002; 128: 6: 903-933.Martin C.L., Ruble D.N., Szkrybalo J. Cognitive theories of early gender development. Psychol Bull 2002; 128: 6: 903-933.Zucker K.J. Measurement of psychosexual differentiation. Arch Sex Behav 2005; 34: 4: 375-388.Zucker K.J. Measurement of psychosexual differentiation. Arch Sex Behav 2005; 34: 4: 375-388.Basson R., Leiblum S., Brotto L. et al. Definitions of women's sexual dysfunction reconsidered: advocating expansion and revision. J Psychosom Obstet Gynaecol 2003; 24: 4: 221-229.Basson R., Leiblum S., Brotto L. et al. Definitions of women's sexual dysfunction reconsidered: advocating expansion and revision. J Psychosom Obstet Gynaecol 2003; 24: 4: 221-229.

The authors declare that there are no conflicts of interest present.