Involvement of
CATSPER
calcium channel
case report
fertilization
hearing loss
spermatozoa
Journal
F&S reports
ISSN: 2666-3341
Titre abrégé: F S Rep
Pays: United States
ID NLM: 101766618
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
received:
23
08
2023
revised:
15
12
2023
accepted:
15
12
2023
medline:
25
3
2024
pubmed:
25
3
2024
entrez:
25
3
2024
Statut:
epublish
Résumé
To explore the functional implications of a homozygous Case report. Two twin brothers aged 30 years with hearing loss and unexplained infertility. Molecular genetic diagnosis of deafness. Evaluation of the acrosome reaction and calcium mobilization assays after induction by progesterone and ionomycin on spermatozoa of the Fertilization rate during conventional in vitro fertilization. Molecular genetic test. Percentage of acrosome-reacted spermatozoa with peanut agglutinin lectin staining. Recording of progesterone and ionomycin-induced intracellular calcium signals with a fluorescent probe. Mr. S and his brother have normal, conventional sperm parameters. Both brothers have had repeated intrauterine insemination failures and one fertilization failure after conventional in vitro fertilization. Mr. S obtained 2 healthy babies after intracytoplasmic sperm injection. Genetic analysis found a homozygote deletion of the We demonstrate the absence of a calcium signal and acrosome reaction after progesterone in our patient with a
Identifiants
pubmed: 38524220
doi: 10.1016/j.xfre.2023.12.003
pii: S2666-3341(23)00135-6
pmc: PMC10958707
doi:
Types de publication
Journal Article
Langues
eng
Pagination
114-122Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
S.G. reports that the doctoral salary was supported by Medical Research Foundation (FRM – FDT202204014931) and the National Research Institute for agriculture, feed and environment (INRAE). C.G. has nothing to disclose. L.T. has nothing to disclose. J.M. has nothing to disclose. M.C. has nothing to disclose. F.I. has nothing to disclose. É.H. has nothing to disclose. C.R. has nothing to disclose. N.V. has nothing to disclose. C.D. has nothing to disclose. C.B. has nothing to disclose. N.G. has nothing to disclose.