Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men

Llabador, Marie-Astrid; Pagin, A.; Lefebvre-Maunoury, C.; Marcelli, F.; Leroy‐Martin, B.; Rigot, Jean-Marc; Mitchell, Valérie

doi:10.1111/andr.12019

Cited by 19 publications

(10 citation statements)

References 52 publications

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“…Spermatozoa was obtained from all nine patients undergoing MESA or TESE surgeries, but most of these patients had weak sperm motility (mostly grade C or D) and a high sperm abnormality rate (97% to 100%; Table . Llabador et al evaluated sperm retrieval and ICSI outcomes of 108 men with CBAVD. Only 19.4% (21/108) had normal spermatogenesis, and 30.5% (33/108) had hypospermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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Background Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and is also related to the X‐linked ADGRG2 (adhesion G protein‐coupled receptor G2) gene. Genetic screening and counseling strategies for Chinese CBAVD populations remain controversial because the genetic background of CBAVD in Chinese population is largely unknown. Objectives In this study, we aimed to study the mutation spectrum of CFTR and ADGRG2 in a group of CBAVD patients and to evaluate sperm retrieval outcomes in a subset of CBAVD patients. Materials and methods Next‐generation targeted sequencing was used to identify mutations in the CFTR and ADGRG2 genes in 38 CBAVD patients. In addition, we followed and analyzed nine of the 38 patients who were undergoing sperm retrieval surgery. Results In total, 27 of 38 (71.05%) patients carried at least one likely pathogenic or pathogenic mutation in CFTR or ADGRG2. In addition to the IVS9‐5T allele, 15 CFTR and 1 ADGRG2 mutations were identified, including 4 novel mutations. CFTR hot‐spot mutations were not identified in our study. Spermatozoon was successfully obtained in all nine patients who underwent MESA or TESE surgery, but most patients had spermatozoa with relatively low motility and high abnormality rates. Discussion and conclusion Except for the IVS9‐5T allele, hot‐spot mutations of CFTR may not exist in Chinese CBAVD patients. Therefore, next‐generation targeted sequencing for whole CFTR and ADGRG2 gene may be the appropriate genetic testing method, and genetic counseling may be different from Caucasian populations. We observed a high success rate of sperm retrieval with relatively low motility and high abnormality rates in Chinese CBAVD patients. However, this is only a weak conclusion due to the small sample size.

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Section: Discussionmentioning

confidence: 99%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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“…Based on semen analysis of 4,822 men, Stone et al verified that daily sperm production significantly declines after 34 years of age (Stone et al, 2013). Hypospermatogenesis was histopathologically detected in 33/54 (61.1%) males with CBAVD that had been subjected to testicular sperm extraction (Llabador et al, 2015). By analyzing 85 CBAVD patients who had undergone PESA-ICSL, Elhanbly et al demonstrated that paternal age was negatively correlated with sperm count, motility, vitality, and normal sperm morphology.…”

Section: Discussionmentioning

confidence: 99%

“…Among CFTR positive individuals, 46% have two mutations, and only 28% have a single mutation (Yu et al, 2012). Besides the CBAVD obstructive azoospermia effect, there is evidence for impaired spermatogenesis in individuals with CBAVD (Meng et al, 2001;Llabador et al, 2015). This is the first report of a person with Beare-Stevenson Syndrome whose father had CBAVD.…”

Section: Introductionmentioning

confidence: 85%

Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome

Ferreira

Dantas

2020

Front. Genet.

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Background: Apert, Pfeiffer, and Crouzon syndromes are autosomal dominant diseases characterized by craniosynostosis. They are paternal age effect disorders. The association between paternal age and Beare-Stevenson syndrome (BSS), a very rare and severe craniosynostosis, is uncertain. Gain-of-function mutations in FGFR2 become progressively enriched in testes as men age and were shown to cause these syndromes. Case report: Here, we describe a child affected with BSS, whose father was 36 years old and had congenital bilateral absence of the vas deferens (CBAVD). The child was heterozygous for the pathogenic FGFR2 variant c.1124A > G p.Tyr375Cys. By reviewing the literature, we found that BSS fathers are older than BSS mothers (mean age in years: 39 ± 10 vs 30 ± 6, p = 0.006). Male age greater than 34 years and CBAVD are both factors associated with poor spermogram parameters, which may represent an additional selective pressure to sperm carrying FGFR2 gain-of-function mutations. Conclusion: These findings are consistent with the hypothesis that BSS is a paternalorigin genetic disorder. Further experimental studies would be needed to confirm this hypothesis.

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“…Преконцепционная профилактика муковисцидоза у пациентов и супружеских пар с муковисцидозом при планировании беременности должна включать медико-генетическое консультирование, так как у них повышен риск рождения ребенка с муковисцидозом [21][22][23]. Рекомендуется проведение анализа частых мутаций гена CFTR у супруга пациента с муковисци-дозом, а в случае выявления носительства патогенных вариантов гена CFTR -проведение преимплантаци-онной и/или пренатальной диагностики [8,21].…”

Section: Discussionunclassified

Andrology Examination of Patients With Pancreatic-Sufficient and Pancreatic-Insufficient Cystic Fibrosis

Репина¹,

Красовский²,

Роживанов³

et al. 2018

Androl. genit. hir.

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Introduction. Cystic fibrosis (CF) is common monogenic disease resulted from CFTR gene mutations. A most of CF male patients are infertile due to the obstructive azoospermia, however, the mechanisms of the reduced fertility in male patients without the obstruction of seminal ducts, also as the influence of CFTR genotype on their development is understudied.Objectiveis to assess an influence the effect of CFTR genotype, clinical form of CF and age on men reproductive system organs, fertility, and testosterone level and semen parameters in male patients with CF. Materials and methods. We examined 71 Russian men (17–39 years old, mean 24.9 ± 5.3) with CF (pancreatic-sufficient, n = 34, and pancreatic-insufficient, n = 37). Clinical, andrology, laboratory and instrumental examination, including scrotal ultrasonography, biochemical semen, and hormonal analyses were performed.Results. Testicular hypoplasia was reveled in 40,5 % CF patients. Diffuse alterations of epididymis, of epididymal and/or testicular cysts were detected in 62 % patients; 10 % of the patients presented symptoms of hypogonadism. As many as 88 % patients showed spermiological signs of bilateral obstruction of seminal ducts at the level of the vas deferens and epididymis, aplasia of the seminal vesicles (azoospermia, oligospermia, low pH and fructose level of the ejaculate). Pancreatic-insufficient CF is an unfavorable prognostic sign for the obstruction of vas deferens, morphological changes in the scrotum. Patients until 25 years (23 %) as 3849+10kb C>T mutation’s carriers (72 %) significantly more frequently presented preserved vas deferens.Conclusion. Pancreatic-sufficient CF, young age and 3849+10kbС>T mutation are favorable factors presented preserved vas deferens and the possible fertility in men with CF.

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Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men

Cited by 19 publications

References 52 publications

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome

Andrology Examination of Patients With Pancreatic-Sufficient and Pancreatic-Insufficient Cystic Fibrosis

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