Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

Baiba Alksere; Dace Berzina; Alesja Dudorova; Una Conka; Santa Andersone; Evija Pimane; Sandra Krasucka; Arita Blumberga; Aigars Dzalbs; Ieva Grinfelde; Natalija Vedmedovska; Violeta Fodina; Juris Erenpreiss

doi:10.1155/2019/3802613

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

Baiba Alksere, Dace Berzina, Alesja Dudorova, Una Conka, Santa Andersone, Evija Pimane, Sandra Krasucka, Arita Blumberga, Aigars Dzalbs, Ieva Grinfelde, Natalija Vedmedovska, Violeta Fodina, Juris Erenpreiss

Rīga Stradiņš University

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Abstract

Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

Original language	English
Pages (from-to)	1-5
Journal	Case Reports in Genetics
Volume	2019
DOIs	https://doi.org/10.1155/2019/3802613
Publication status	Published - 31 Oct 2019

Field of Science*

3.1 Basic medicine
3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1155/2019/3802613Licence: CC BY

Case of Inherited Partial AZFa Deletion without ImpactFinal published version, 1.42 MBLicence: CC BY

Cite this

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title = "Case of Inherited Partial AZFa Deletion without Impact on Male Fertility",

abstract = " Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene. ",

author = "Baiba Alksere and Dace Berzina and Alesja Dudorova and Una Conka and Santa Andersone and Evija Pimane and Sandra Krasucka and Arita Blumberga and Aigars Dzalbs and Ieva Grinfelde and Natalija Vedmedovska and Violeta Fodina and Juris Erenpreiss",

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doi = "10.1155/2019/3802613",

language = "English",

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journal = "Case Reports in Genetics",

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TY - JOUR

T1 - Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

AU - Alksere, Baiba

AU - Berzina, Dace

AU - Dudorova, Alesja

AU - Conka, Una

AU - Andersone, Santa

AU - Pimane, Evija

AU - Krasucka, Sandra

AU - Blumberga, Arita

AU - Dzalbs, Aigars

AU - Grinfelde, Ieva

AU - Vedmedovska, Natalija

AU - Fodina, Violeta

AU - Erenpreiss, Juris

PY - 2019/10/31

Y1 - 2019/10/31

N2 - Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

AB - Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

UR - https://www.mendeley.com/catalogue/97773a80-508a-31f2-bc80-8f0d9c0dbc60/

U2 - 10.1155/2019/3802613

DO - 10.1155/2019/3802613

M3 - Article

SN - 2090-6544

VL - 2019

SP - 1

EP - 5

JO - Case Reports in Genetics

JF - Case Reports in Genetics

ER -

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

Abstract

Field of Science*

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