دورية أكاديمية
أعرض في EDS

Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.

التفاصيل البيبلوغرافية
العنوان: Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.
المؤلفون: Le Poulennec T; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: tiphaine.lepoulennec@aphp.fr., Dubreuil S; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Grynberg M; Departement of Reproductive Medicine Clamart, hôpital Béclère, AP-HP, France; Hôpital Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France., Chabbert-Buffet N; Departement of Obstetrics Gynecology and Reproductive Medicine, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France., Sermondade N; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Departement of Reproductive Biology, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France., Fourati S; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France; Departement of Endocrine Biochemistry and oncology, hôpital Pitié-Salpêtrière-Charles-Foix, AP-HP, Paris, France., Siffroi JP; Genetics Departement, Inserm UMR_S_933, hôpital Armand-Trousseau, AP-HP, Paris, France; Hôpital Armand-Trousseau, 26, avenue du Dr Arnold-Netter, 75012 Paris, France., Héron D; Genetics Department, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Bachelot A; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
المصدر: Annales d'endocrinologie [Ann Endocrinol (Paris)] 2024 Jul; Vol. 85 (4), pp. 269-275. Date of Electronic Publication: 2024 May 01.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: France NLM ID: 0116744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-3941 (Electronic) Linking ISSN: 00034266 NLM ISO Abbreviation: Ann Endocrinol (Paris) Subsets: MEDLINE
أسماء مطبوعة: Publication: <1990- >: Paris : Elsevier
Original Publication: Paris, Masson.
مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/physiology , Ovarian Reserve*/genetics , Primary Ovarian Insufficiency*/genetics , Fertility Preservation*/methods, Humans ; Female ; Adult ; Retrospective Studies ; Pregnancy ; Mutation ; Fragile X Syndrome/genetics ; Fragile X Syndrome/epidemiology ; Infertility, Female/genetics ; Infertility, Female/etiology ; Infertility, Female/therapy ; Cohort Studies ; Anti-Mullerian Hormone/blood
مستخلص: Introduction: Women with premutation (PM) of the FMR1 gene may suffer from reduced ovarian reserve or even premature ovarian insufficiency (POI). We studied hormonal and ultrasound ovarian reserve, fertility and fertility preservation outcomes in these patients.
Patients and Method: Retrospective cohort study of 63 female FMR1 premutation carriers.
Results: Sixty-three female patients bearing an FMR1 premutation were included. Median age was 30 years [26.5-35]. Median number of CGG triplets was 83 [77.2-92]. Before diagnosis of PM, 19 women (30%) had had in all 35 pregnancies, resulting in 20 births, including 7 affected children. After diagnosis of PM, 17 women (26.1%) had in all 23 pregnancies, at a median age of 34.5 years [32.2-36.0]: 2 after pre-implantation genetic diagnosis, 3 after oocyte donation, 18 spontaneously, and 5 ending in medical termination for fragile X syndrome. Thirty-three patients (52.4%) had POI diagnosis (median age, 30 years [27-34]) with median FSH level 84 IU/L [50.5-110] and median AMH level 0.08ng/mL [0.01-0.19]. After POI diagnosis, 8 women had in all 9 pregnancies: 3 following oocyte donation, and 6 spontaneous in 5 women (15.1%). Eight of the 9 pregnancies resulted in a live birth (including 2 affected children) and 1 in medical termination for trisomy 13. The median age of the 30 patients without POI was 31 years [25.2-35.0]. Thirteen women (20.6%) underwent fertility preservation, at a median age of 29 years [24-33]: FSH 7.7 IU/L [6.8-9.9], AMH 1.1ng/mL [0.95-2.1], antral follicle count 9.5 [7.7-14.7]. A median 15 oocytes [10-26] were cryopreserved in a median 2 cycles [1-3]. At the time of writing, no oocytes had yet been thawed for in-vitro fertilization.
Conclusions: This study shows the importance of early fertility preservation after diagnosis of FMR1 premutation in women, due to early deterioration of ovarian reserve. Genetic counseling is essential in these patients, as spontaneous pregnancies are not uncommon, even in cases of impaired ovarian reserve, and can lead to birth of affected children.
(Copyright © 2024 Elsevier Masson SAS. All rights reserved.)
فهرسة مساهمة: Keywords: FXDOR; FXPOI; Fertility preservation; Fragile X syndrome; Primary ovarian insufficiency
المشرفين على المادة: 139135-51-6 (Fragile X Mental Retardation Protein)
0 (FMR1 protein, human)
80497-65-0 (Anti-Mullerian Hormone)
تواريخ الأحداث: Date Created: 20240503 Date Completed: 20240715 Latest Revision: 20240717
رمز التحديث: 20240717
DOI: 10.1016/j.ando.2024.04.004
PMID: 38702011
قاعدة البيانات: MEDLINE
الوصف
تدمد:2213-3941
DOI:10.1016/j.ando.2024.04.004