EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions : State of the art 2023
Krausz, Csilla (Institut de Recerca Sant Pau)
Navarro-Costa, Paulo (Gulbenkian Science Institute (Lisboa, Portugal))
Wilke, Martina (Erasmus Medical Center)
Tüttelmann, Frank (University of Münster (Münster, Alemanya))
Universitat Autònoma de Barcelona

Fecha:	2024
Resumen:	Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold-standard methodology to detect and correctly interpret AZF deletions. Recent data have led to an update of the sY84 reverse primer sequence, as well as to a refinement of what were previously considered as interchangeable border markers for AZFa and AZFb deletion breakpoints. More specifically, sY83 and sY143 are no longer recommended for the deletion extension analysis, leaving sY1064 and sY1192, respectively, as first-choice markers. Despite the transition, currently underway in several countries, toward a diagnosis based on certified kits, it should be noted that many of these commercial products are not recommended due to an unnecessarily high number of tested markers, and none of those currently available are, to the best of our knowledge, in accordance with the new first-choice markers for the deletion extension analysis. The gr/gr partial AZFc deletion remains a population-specific risk factor for impaired sperm production and a predisposing factor for testicular germ cell tumors. Testing for this deletion type is, as before, left at the discretion of the diagnostic labs and referring clinicians. Annual participation in an external quality control program is strongly encouraged, as the 22-year experience of the EMQN/EAA scheme clearly demonstrates a steep decline in diagnostic errors and an improvement in reporting practice.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article de revisió ; recerca ; Versió publicada
Materia:	AZF ; Y chromosome microdeletion ; Azoospermia ; Human genetics ; Male infertility ; Oligozoospermia ; Quality control ; Spermatogenesis
Publicado en:	Andrology, Vol. 12 Núm. 3 (march 2024) , p. 487-504, ISSN 2047-2927

DOI: 10.1111/andr.13514
PMID: 37674303

18 p, 1.0 MB

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