AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion

Tóth, András; Tardy, Erika P.; S, Gombos; Hajdu, K.; Bátorfi, József; Krausz, Csilla

doi:10.1002/pd.35

Cited by 8 publications

(4 citation statements)

References 12 publications

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“…Spermatozoa retrieved from men with AZFc deletions are fertilization competent and, when used for ICSI (intracytoplasmic sperm injection), produce viable embryos and pregnancy at similar rates as spermatozoa of men without AZFc deletions (Page et al, 1999;Liu et al, 2013). In several cases AZFc deletions have even been transmitted to offspring via natural conception (Toth et al, 2001;Patsalis et al, 2002;Kuhnert et al, 2004;Minor et al, 2007;Zhu et al, 2010). Histological evaluation of testes in men with AZFc deletion indicates the presence of a heterogeneous phenotype of Sertoli cell only (SCO) tubules, tubules with maturation arrest (MA) and tubules with normal spermatogenesis (Luetjens et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

AZFcdeletions do not affect the function of human spermatogoniain vitro

et al. 2015

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Azoospermic factor c (AZFc) deletions are the underlying cause in 10% of azoo- or severe oligozoospermia. Through extensive molecular analysis the precise genetic content of the AZFc region and the origin of its deletion have been determined. However, little is known about the effect of AZFc deletions on the functionality of germ cells at various developmental steps. The presence of normal, fertilization-competent sperm in the ejaculate and/or testis of the majority of men with AZFc deletions suggests that the process of differentiation from spermatogonial stem cells (SSCs) to mature spermatozoa can take place in the absence of the AZFc region. To determine the functionality of AZFc-deleted spermatogonia, we compared in vitro propagated spermatogonia from six men with complete AZFc deletions with spermatogonia from three normozoospermic controls. We found that spermatogonia of AZFc-deleted men behave similar to controls during culture. Short-term (18 days) and long-term (48 days) culture of AZFc-deleted spermatogonia showed the same characteristics as non-deleted spermatogonia. This similarity was revealed by the same number of passages, the same germ cell clusters formation and similar level of genes expression of spermatogonial markers including ubiquitin carboxyl-terminal esterase L1 (UCHL1), zinc finger and BTB domain containing 16 (ZBTB16) and glial cell line-derived neurotrophic factor family receptor alpha 1 (GFRA1), as well as germ cell differentiation markers including signal transducer and activator of transcription 3 (STAT3), spermatogenesis and oogenesis specific basic helix-loophelix 2 (SOHLH2), v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) and synaptonemal complex protein 3 (SYCP3). The only exception was melanoma antigen family A4 (MAGEA4) which showed significantly lower expression in AZFc-deleted samples than controls in short-term culture while in long-term culture it was hardly detected in both AZFc-deleted and control spermatogonia. These data suggest that, at least in vitro, spermatogonia of AZFc-deleted men are functionally similar to spermatogonia from non-deleted men. Potentially, this enables treatment of men with AZFc deletions by propagating their SSCs in vitro and autotransplanting these SSCs back to the testes to increase sperm counts and restore fertility.

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Section: Introductionmentioning

confidence: 99%

AZFcdeletions do not affect the function of human spermatogoniain vitro

et al. 2015

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“… 3 Male children born with AZFc deletions should be counseled and informed at an early age so that their sperm can be collected via TESE and stored for the future. 4 A Y chromosome microdeletion test result that reveals the absence of spermatogenesis can seriously impact a couple's relationship. 5 Therefore, continued support should ideally be provided to patients after the results of Y chromosome microdeletion analysis are made available to them.…”

Section: Discussionmentioning

confidence: 99%

A case of problems in supporting a patient after Y-chromosome long arm microdeletion testing at a Japanese general hospital

Tanabe

Imai

Kobayashi

et al. 2022

Urology Case Reports

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There are only few reports on the problems faced post-Y-chromosome microdeletion tests that decide the use of micro testicular sperm extraction. We report a case wherein we faced issues in supporting a patient post-testing. One patient with azoospermia factor c ( AZFc ) deletion gave birth to a baby boy, who could have inherited the AZFc deletion; however, we could not inform the young patient. Therefore, it is necessary to establish a post-testing support system for patients and infants.

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“…If ESACs detected prenatally contain euchromatin, it is essential to perform further analysis using fluorescence in situ hybridization (FISH) or other molecular techniques to identify the origin of the markers in order to evaluate the possible effects on the foetus phenotype (Blennow et al, 1994;Slim et al 1994;Brøndum-Nielsen and Mikkelsen, 1995;Hastings et al, 1999;Toth et al 2001).…”

Section: Introductionmentioning

confidence: 99%

Molecular and cytogenetic characterization of extra‐structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow‐up

Marchina¹,

Piovani²,

Vezzola³

et al. 2003

Prenatal Diagnosis

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A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines: mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity.

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AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion

Cited by 8 publications

References 12 publications

AZFcdeletions do not affect the function of human spermatogoniain vitro

AZFcdeletions do not affect the function of human spermatogoniain vitro

A case of problems in supporting a patient after Y-chromosome long arm microdeletion testing at a Japanese general hospital

Molecular and cytogenetic characterization of extra‐structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow‐up

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