Microdeleciones del gen AZF: serie de casos y revisión de la literatura

Gallego, A.; Rogel, Ramón; Marco, S. Luján; Plaza, Baylor; Delgado, F.; Boronat, F

doi:10.1016/j.acuro.2014.04.003

Cited by 9 publications

(2 citation statements)

References 19 publications

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“…Molecular analysis of the Y chromosome has shown that each sub-region of AZF plays a crucial role in the entire process of spermatogenesis. 29 Deletion of the AZFa region universally results in Sertoli cell-only syndrome and azoospermia, while deletion in the AZFb region affects spermatogenic disorders because of unmetabolized metamerism. 30 Deletion of the AZFc locus primarily influences germ cell differentiation leading to severe oligozoospermia or azoospermia.…”

Section: Discussionmentioning

confidence: 99%

Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China

Zhao

et al. 2019

J Int Med Res

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Objective To determine the prevalence of chromosome abnormalities and azoospermia factor (AZF) microdeletions in Hakka men with infertility in southern China. Methods Hakka male patients, who received clinical counselling for infertility between August 2016 and October 2017, and fertile male controls, were enrolled into this retrospective study. Patients diagnosed with infertility and controls underwent cytogenetic analysis by standard G-banding; AZF microdeletions were examined by multiplex polymerase chain reaction and capillary electrophoresis. Results Out of 918 male patients who received fertility counselling, 57 were diagnosed with infertility due to azoospermia or severe oligozoospermia. Of these infertile patients, 22.81% (13/57) carried chromosome abnormalities, with 47, XXY being the most common abnormal karyotype. In addition, 36.84% (21/57) presented with Y chromosome microdeletions, most frequently in the complete AZFc and partial AZFc region. Duplication of the AZFc region was found in three patients. No AZF microdeletions were found in 60 fertile male controls. Conclusion The high AZF microdeletion frequency in the current Hakka population suggests that AZF microdeletion analysis is essential in fertility screening, and combined with cytogenetic analysis, may influence the choice of assisted reproductive techniques and reduce the risk of inherited genetic disease.

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Section: Discussionmentioning

confidence: 99%

Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China

Zhao

et al. 2019

J Int Med Res

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“…The European Association of Urology emphasises that the cases should be evaluated together with their hormonal values in the male infertility guide (Jungwirth et al, 2012). Gallego et al determined the mean FSH value as 16 mU / ml, the mean T value as 7.1 ng / ml and the mean LH value as 7 mU / ml in the hormonal evaluation they performed in 11 azoospermia cases with AZF microdeletions and could not find a relationship between changes in the hormone profile and AZF microdeletions (Gallego et al, 2014). In our study, the mean FSH value was 15.49 mU / ml, the mean T value was 4.3 ng / ml, and the mean LH value was 8 mU / ml, and no statistically significant relationship was found between the AZF microdeletion type and the specified hormonal values.…”

Section: Ta B L Ementioning

confidence: 99%

Investigation of genotype–phenotype correlation in patients with AZF microdeletion in a single‐reference centre

et al. 2021

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Azoospermia is the absence of spermatozoa in the ejaculate and azoospermic semen samples are found at a rate of approximately 2% in the adult male population and 10%-20% in male individuals with infertility problems. Genetic factors are responsible for 21%-29% of azoospermia (Krausz, Forti, & McElreavey, 2003).However, in approximately 50% of the cases, the aetiology is still unknown and this condition is called 'idiopathic infertility'.One of the first genetic tests to be performed in patients with idiopathic male infertility is karyotype analysis. It is also well known that Yq microdeletions are associated with male infertility. The presence of deletions in Yq in infertile men indicates the presence of azoospermia factor (AZF), a locus responsible for spermatogenesis. The AZF locus is divided into 3 regions: AZFa, AZFb and AZFc. Deletions occurring in these three regions can cause infertility by affecting different stages of spermatogenesis (Krausz et al., 2003). There are studies showing that sperm retrieval is not possible with testicular sperm extraction (TESE)

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Genetic counseling prior to assisted reproductive technology

Katagiri

Tamaki

2020

Reprod Medicine & Biology

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Background Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients prior to assisted reproductive technology (ART). Japan Society for Reproductive Medicine (JSRM) requires doctors involved in reproductive medicine to have standard knowledge of reproductive genetics and knowledge of reproductive medicine, which is covered in their publication, “required knowledge of reproductive medicine.” Methods With the aim of providing straightforward explanations to patients in the clinical situation at pre‐ART counseling, we provide the following five topics, such as (a) risk of birth defects in children born with ART, (b) chromosomal abnormalities, (c) Y chromosome microdeletions (YCMs), (d) possible chromosomal abnormal pregnancy in oligospermatozoa requiring ICSI (intracytoplasmic sperm injection), and (e) epigenetic alterations. Main findings The frequency of chromosome abnormalities in infertile patients is 0.595%‐0.64%. YCMs are observed in 2%‐10% of severe oligospermic men. High incidence of spermatozoa with chromosomal abnormalities has been reported in advanced oligospermia and asthenozoospermia that require ICSI. Some epigenetic alterations were reported in the children born with ART. Conclusion Certain genetic knowledge is important for professionals involved in reproductive medicine, even if they are not genetic experts.

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Microdeleciones del gen AZF: serie de casos y revisión de la literatura

Cited by 9 publications

References 19 publications

Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China

Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China

Investigation of genotype–phenotype correlation in patients with AZF microdeletion in a single‐reference centre

Genetic counseling prior to assisted reproductive technology

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