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Inherited congenital normofunctional testicular hyperplasia and mental deficiency

A corroborative study

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Summary

Three 46,XY unrelated individuals out of 84 postpubertal male inpatients with severe mental deficiency in a psychiatric hospital were found to have megalorchidia and macrogenitosomia. One of the cases had a similarly affected brother. Endocrine studies were performed in two of the cases with similar results. Normal plasma levels of pituitary gonadotropins were found. A normal testicular function was demonstrated by the finding of normal: (a) baseline plasma testosterone levels and a significant rise following human chorionic gonadotropin administration, (b) sperm analysis, and (c) morphology and cell architecture of the testes. These results were compatible with normofunctional testicular hyperplasia confirming previous observations and allowing the definite individualization of a syndrome with mental deficiency probably due to an X-linked recessive mutation.

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References

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Authors and Affiliations

  1. División de Genética y Hematología, Unidad de Investigación Biomédica, Centro Médico de Occidente, I.M.S.S., Apartado Postal 1-3838, Guadalajara, Jalisco, México

    J. M. Cantú, H. E. Scaglia, M. González-Diddi, P. Hernández-Jáuregui, T. Morato, M. E. Moreno, J. Giner, A. Alcántar, D. Herrera & G. Pérez-Palacios

  2. Departamento de Investigación en Medicina Experimental del Centro Médico Nacional, I.M.S.S., México, D. F., México

    J. M. Cantú, H. E. Scaglia, M. González-Diddi, P. Hernández-Jáuregui, T. Morato, M. E. Moreno, J. Giner, A. Alcántar, D. Herrera & G. Pérez-Palacios

  3. Departamento de Biología de la Reproducción, Instituto Nacional de la Nutrición, México, D. F., México

    J. M. Cantú, H. E. Scaglia, M. González-Diddi, P. Hernández-Jáuregui, T. Morato, M. E. Moreno, J. Giner, A. Alcántar, D. Herrera & G. Pérez-Palacios

  4. Hospitales Psiquiátricos Infantil and ‘Fray Bernardino Alvarez’, S.S.A., México, D. F., México

    J. M. Cantú, H. E. Scaglia, M. González-Diddi, P. Hernández-Jáuregui, T. Morato, M. E. Moreno, J. Giner, A. Alcántar, D. Herrera & G. Pérez-Palacios

Authors
  1. J. M. Cantú
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  2. H. E. Scaglia
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  3. M. González-Diddi
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  4. P. Hernández-Jáuregui
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  5. T. Morato
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  6. M. E. Moreno
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  7. J. Giner
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  8. A. Alcántar
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  9. D. Herrera
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  10. G. Pérez-Palacios
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Cantú, J.M., Scaglia, H.E., González-Diddi, M. et al. Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum Genet 41, 331–339 (1978). https://doi.org/10.1007/BF00284767

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  • DOI: https://doi.org/10.1007/BF00284767

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