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Familial DMRT1-related non-obstructive azoospermia: a case report.
Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni.
Afiliación
  • Severi G; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Ambrosini E; Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
  • Caramanna L; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Monti L; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Magini P; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Innella G; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. giovanni.innella2@unibo.it.
J Assist Reprod Genet ; 2024 Sep 11.
Article en En | MEDLINE | ID: mdl-39259317
ABSTRACT

PURPOSE:

To report an exceptional case of male-to-male transmission of genetically based non-obstructive azoospermia (NOA) and varicocele through a naturally obtained pregnancy. SUBJECTS AND

METHODS:

A father and his son were both diagnosed with NOA after centrifugation and varicocele. The father has no other clinical concerns apart from infertility, detected after many attempts of having another child, but given his urological situation (bilateral varicocele and NOA) assisted reproductive techniques were discouraged. After genetic counseling, several genetic-chromosomal analyses were carried out in the son (karyotype, chromosome Y microdeletions, CFTR screening, NGS infertility panels, and finally array-CGH).

RESULTS:

After a series of inconclusive tests, array-CGH detected a deletion of 224-283 kb (del9p24.3) involving part of the KANK1 and DMRT1 genes, inherited from the father. Haploinsufficiency of DMRT1 was therefore considered the determining factor in the development of azoospermia in the family by a loss of function mechanism.

CONCLUSION:

The confirmation of father-to-son transmission of a deletion including DMRT1 represents an important point for clinicians dealing with male infertility, even when complete azoospermia is repetitively detected, and must be of hope for a relevant portion of men. Inclusion criteria for the access to assisted reproductive techniques may also be reconsidered and worthy of a greater number of clinical insights. Finally, since DMRT1 alterations have been associated with NOA and abnormal testicular development, but not specifically with varicocele, further studies are required to validate this issue, as varicocele may have played a crucial role in this case.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Assist Reprod Genet Asunto de la revista: GENETICA / MEDICINA REPRODUTIVA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Assist Reprod Genet Asunto de la revista: GENETICA / MEDICINA REPRODUTIVA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos