A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia

Akbarian, Fahimeh; Tavalaee, Marziyeh; Sherkat, Roya; Shahrooei, Mohammad; Nasr-Esfahani, Mohammad Hossein

doi:10.1111/and.14080

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…Thirty-seven publications reported on fertility outcomes in 119 women with PCD. Seventy-one women were subfertile ( Afzelius et al , 1978 ; Zhao et al , 2021 ; Afzelius and Eliasson, 1983 ; McComb et al , 1986 ; Greenstone et al , 1988 ; Lurie et al , 1989 ; Marchini et al , 1992 ; Halbert et al , 1997 ; Lin et al , 1998 ; McLean and Claman, 2000 ; Noone et al , 2004 ; Gavai et al , 2007 ; Ott et al , 2007 ; Abu-Musa et al , 2008 ; Plesec et al , 2008 ; Mishra et al , 2012 ; Chen et al , 2014 ; Onoufriadis et al , 2014 ; Imtiaz et al , 2015 ; Cao et al, 2016 ; Vanaken et al , 2017 ; Höben et al , 2018 ; Yang et al , 2018 ; Zhang et al , 2018 ; Yiallouros et al , 2019 ; Zhou et al , 2020 ; Akbarian et al , 2021 ; De Jesus-Rojas et al , 2021 ; Lu et al , 2021 ; Ma et al , 2021 ; Wang et al , 2021 ). Forty-eight women reported natural pregnancy ( Afzelius et al , 1978 ; Afzelius and Eliasson, 1983 ; Greenstone et al , 1988 ; Eliyahu and Shalev, 1996 ; Noone et al , 2004 ; Blyth and Wellesley, 2008 ; Onoufriadis et al , 2013 ; Marafie et al , 2015 ; Raidt et al , 2015 ; Cao et al, 2016 ; Cooley et al , 2016 ; Vanaken et al , 2017 ;…”

Section: Prevalence Of Subfertility In Women and Men With Pcdmentioning

confidence: 99%

“…However, it is not clear if the remaining 16 ‘infertile’ women also underwent ART. Two cases which described embryo yield reported an average fertilization rate of 87% and an average of 56% viable embryos per oocyte retrieved ( Akbarian et al , 2021 ; Ma et al, 2021 ). Outcomes following ART use in males with PCD were reported in 65 cases, with ART leading to live births or ongoing pregnancy in 54 cases ( Table III ).…”

Section: Art Outcomes In Women and Men With Pcdmentioning

confidence: 99%

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The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

Newman

Chopra

Dossett

et al. 2023

Human Reproduction Update

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BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic condition affecting the structure and function of sperm flagellum and motile cilia including those in the male and female reproductive tracts. Infertility is a commonly reported feature of PCD, but there is uncertainty as to how best to counsel patients on their fertility prognosis. OBJECTIVE AND RATIONALE This review aimed to summarize the prevalence of subfertility, possible underlying mechanisms, and the success of ART in men and women with PCD. The efficacy of ART in this patient group is relatively unknown and, hence, the management of infertility in PCD patients remains a challenge. There are no previous published or registered systematic reviews of fertility outcomes in PCD. SEARCH METHODS Systematic literature searches were performed in Medline, Embase, Cochrane Library, and PubMed electronic databases to identify publications between 1964 and 2022 reporting fertility outcomes in men and women with PCD. Publications were excluded if they reported only animal studies, where gender was not specified or where subjects had a medical co-morbidity also known to impact fertility. Quality of evidence was assessed by critical appraisal and application of an appraisal tool for cross-sectional studies. The primary outcomes were natural conception in men and women with PCD, and conception following ART in men and women with PCD. OUTCOMES A total of 1565 publications were identified, and 108 publications were included after screening by two independent researchers. The quality of available evidence was low. The exact prevalence of subfertility in PCD is unclear but appears to be higher in men (up to 83% affected) compared to women (up to 61% affected). Variation in the prevalence of subfertility was observed between geographic populations which may be explained by differences in underlying genotype and cilia function. Limited evidence suggests subfertility in affected individuals is likely caused by abnormal cilia motion in the fallopian tubes, endometrium and efferent ductules, and dysmotile sperm. Some men and women with PCD benefited from ART, which suggests its use should be considered in the management of subfertility in this patient group. Further epidemiological and controlled studies are needed to determine the predictors of fertility and optimal management in this patient group. WIDER IMPLICATIONS It is important that patients with PCD receive evidence-based counselling about the potential impact of their condition on their fertility prognosis and what management options may be available to them if affected. Understanding the pathophysiology and optimal management of subfertility in PCD will increase our understanding of the role of cilia and the impact of wider secondary ciliopathies on reproduction.

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Section: Prevalence Of Subfertility In Women and Men With Pcdmentioning

confidence: 99%

Section: Art Outcomes In Women and Men With Pcdmentioning

confidence: 99%

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

Newman

Chopra

Dossett

et al. 2023

Human Reproduction Update

View full text Add to dashboard Cite

show abstract

“…Some authors suggested that cilia dysfunction in the fallopian tubes of women with PCD is associated with an increased risk of ectopic pregnancy and pregnancy loss [ 13 , 19 , 20 ]. In those cases, to achieve pregnancy, assisted reproductive techniques are needed [ 21 ]. Nevertheless, some female patients with PCD can spontaneously conceive despite presenting severely dysfunctional cilia [ 13 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

Pereira

Carvalho

Dias

et al. 2023

J Assist Reprod Genet

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Propose We here present a female case with primary ciliary dyskinesia (PCD) and infertility. In this report, we also present the evaluation of the patient family, including her twin sister, also with PCD and infertility. Methods Confirmation of the PCD clinical diagnosis was performed through assessment of cilia motility, by high-speed video microscopy (HSVM), axoneme ultrastructure, by transmission electron microscopy (TEM), and genetic characterization, by whole-exome sequence (WES). Gene expression studies used qPCR for mRNA expression and immunofluorescence to determine cell protein localization. Results We identified a homozygous nonsense variant in the DRC1 gene (NM 145038.5:c.352C>T (p.Gln118Ter)) in the female patient with PCD and infertility that fit the model of autosomal recessive genetic transmission. This variant eventually results in a dyskinetic ciliary beat with a lower frequency and a partial lack of both dynein arms as revealed by TEM analysis. Moreover, this variant implies a decrease in the expression of DRC1 mRNA and protein. Additionally, expression analysis suggested that DRC1 may interact with other DRC elements. Conclusions Our findings suggest that the DRC1 null variant leads to PCD associated with infertility, likely caused by defects in axoneme from Fallopian tube cilia. Overall, our outcomes contribute to a better understanding of the genetic factors involved in the pathophysiology of PCD and infertility, and they highlight the interaction of different genes in the patient phenotype, which should be investigated further because it may explain the high heterogeneity observed in PCD patients.

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A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans

Shi,

Tang,

Long

et al. 2024

Andrology

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BackgroundDysfunction of motile cilia, including respiratory cilia and sperm flagella, typically leads to primary ciliary dyskinesia and male infertility or low fertility in humans. Genetic defects of LRRC6 have been associated with primary ciliary dyskinesia and asthenozoospermia due to abnormal ultrastructure of ciliated axonemes.ObjectivesTo identify novel mutations of the LRRC6 gene related to multiple morphological abnormalities of the sperm flagella and male infertility and investigate the underlying molecular mechanisms involved.Materials and methodsThe LRRC6 mutations were identified by whole exome sequencing and confirmed with Sanger sequencing. Papanicolaou staining, scanning, and transmission electron microscopy were performed to investigate the morphological and ultrastructural characteristics of spermatozoa. Further tandem mass tagging proteomics analyses were performed to explore the effect of mutations and confirmed by immunostaining and western blotting. Intracytoplasmic sperm injection was applied for the assisted reproductive therapy of males harboring biallelic LRRC6 mutations.ResultsIn this study, we identified a novel homozygous LRRC6 mutation in a consanguineous family, characterized by asthenozoospermia and primary ciliary dyskinesia. Further Semen parameter and morphology analysis demonstrate that the novel LRRC6 mutation leads to a significant reduction in sperm flagella length, a decrease in sperm progressive motility parameters, and abnormalities of sperm ultrastructure. Specifically, the absence of outer dynein arms and inner dynein arms, and incomplete mitochondrial sheath in the flagellar mid‐piece were observed by transmission electron microscopy. In addition, tandem mass tagging proteomics analysis revealed that spermatozoa obtained from patients harboring the LRRC6 mutation exhibited a significant decrease in the expression levels of proteins related to the assembly and function of dynein axonemal arms. Functional analysis revealed that this novel LRRC6 mutation disrupted the function of the leucine‐rich repeat containing 6 protein, which in turn affects the expression of the dynein arm proteins and leucine‐rich repeat containing 6‐interacting proteins CCDC40, SPAG1, and ZMYND10. Finally, we reported a successful pregnancy through assisted reproductive technology with intracytoplasmic sperm injection in the female partner of the proband.Discussion and conclusionThis study highlights the identification of a novel homozygous LRRC6 mutation in a consanguineous family and its impact on sperm progressive motility, morphology, and sperm kinetics parameters, which could facilitate the genetic diagnosis of asthenozoospermia and offer valuable perspectives for future genetic counseling endeavors.

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A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia

Cited by 3 publications

References 15 publications

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans

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