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
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

114-122

Informations 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.

Auteurs

Simon Guignard (S)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.

Christina Guillaume (C)

Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.

Laurie Tornero (L)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.
Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.

Jessika Moreau (J)

Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.

Manon Carles (M)

Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.
DEFE (Développement Embryonnaire, Fertilité, Environnement - Embryonic Development, Fertility, Environment), UMR1203, INSERM - Universities of Toulouse and Montpellier, Paule de Viguier Hospital, Toulouse, France.

François Isus (F)

Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.

Éric Huyghe (É)

Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.
DEFE (Développement Embryonnaire, Fertilité, Environnement - Embryonic Development, Fertility, Environment), UMR1203, INSERM - Universities of Toulouse and Montpellier, Paule de Viguier Hospital, Toulouse, France.

Célia Ravel (C)

Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France.

Nathalie Vergnolle (N)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.

Céline Deraison (C)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.

Chrystelle Bonnart (C)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.

Nicolas Gatimel (N)

IRSD, Université de Toulouse, INSERM, INRAE, ENVT, Univ Toulouse III - Paul Sabatier (UPS), Toulouse, France.
Department of Reproductive Medicine, Paule de Viguier Hospital, Toulouse Teaching Hospital Group Toulouse, France.
DEFE (Développement Embryonnaire, Fertilité, Environnement - Embryonic Development, Fertility, Environment), UMR1203, INSERM - Universities of Toulouse and Montpellier, Paule de Viguier Hospital, Toulouse, France.

Classifications MeSH