Clinicocytogenetic examinations of a patient with caryotype 46, XX, azoospermia, and sterility

  • Authors: Kurilo LF1,2,3,4,5, Kozlov GI1,2,3,4,5, Fedotov VP1,2,3,4,5, Razinkova GA1,2,3,4,5, Solovyov IV1,2,3,4,5, Dubinskaya VP1,2,3,4,5, Shapoval NV1,2,3,4,5, Yevdokimov VV1,2,3,4,5
  • Affiliations:
    1. Clinical Genetics Research Institute
    2. Endocrinology Research Centre
    3. Medical and genetic consulting centre
    4. Psychological Health Centre
    5. Urology Research Centre
  • Issue: Vol 40, No 2 (1994)
  • Pages: 50-51
  • Section: Case Reports
  • URL: https://probl-endojournals.ru/probl/article/view/11805
  • DOI: https://doi.org/10.14341/probl11805
  • Cite item
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Abstract


Intensive mapping of the Y chromosome in recent years has made it possible to determine the localization of a number of loci responsible for male differentiation. On the Y chromosome, the localization of the test-determining factor in the proximal region of the pseudo-autosomal region of the short arm was determined; distal to this gene, it is believed that the gene responsible for the function of the fertility factor SP-2 is located. Loci are located between euchromatin and heterochromatin of the long arm (AZF, SP-3, below - SP-4), which are responsible for controlling spermatogenesis.
Reports on the results of a multilateral examination of clinical cases with impaired spermatogenesis, fertility and anomalies of the Y chromosome are of some value not only for diagnosis and prognosis, but also for the accumulation of more complete information about the genetic regulation of reproductive processes and the development of approaches to correct their disorders. We present our observation.


L F Kurilo

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Author for correspondence.
Email: probl@endojournals.ru

Russian Federation

G I Kozlov

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

V P Fedotov

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

G A Razinkova

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

I V Solovyov

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

V P Dubinskaya

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

N V Shapoval

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

V V Yevdokimov

Clinical Genetics Research Institute; Endocrinology Research Centre; Medical and genetic consulting centre; Psychological Health Centre; Urology Research Centre

Email: probl@endojournals.ru

Russian Federation

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Copyright (c) 1994 Kurilo L.F., Kozlov G.I., Fedotov V.P., Razinkova G.A., Solovyov I.V., Dubinskaya V.P., Shapoval N.V., Yevdokimov V.V.

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