title: Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
abstract: OBJECTIVE
  What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)?
  
  
  CONCLUSIONS
  Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women.
  
  
  BACKGROUND
  Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients.
  
  
  METHODS
  The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014.
  
  
  METHODS
  A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort.
  
  
  RESULTS
  There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection were observed. The median birthweight was 3030 g (range 2020-3460). Two cases of TS were identified in the 17 daughters issued from this cohort.
  
  
  CONCLUSIONS
  It would have been interesting to evaluate AMH levels and SP occurrence, as a predictive factor. Unfortunately, hormonal measurements were missing for some patients. Prospective studies are necessary to display prognostic values of AMH for SP and thus better target fertility preservation programmes in TS patients.
  
  
  CONCLUSIONS
  This study suggests that pregnancy outcomes in SPs are more favourable than those after oocyte donation in TS patients. However, the risk of fetal chromosomal abnormalities remains high. Our study will be useful in order to give patients with TS, their families, paediatricians and physicians involved in reproduction, better counselling concerning their fertility.
  
  
  BACKGROUND
  Funding was provided by the Association pour la recherche Claude Bernard, Paris France All authors claim no competing interests.
  
  
  BACKGROUND
  NA.
authors.affiliation: Université Pierre et Marie Curie, F-75012 Paris, France Service d'Endocrinologie et Maladies de la Reproduction, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Bernard
authors.affiliation: Université Pierre et Marie Curie, F-75012 Paris, France Service d'Endocrinologie et Maladies de la Reproduction, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Donadille
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, F-75019 Paris, France AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019 Paris, France Institut National de la Santé et de la Recherche Médicale U1141, F-75019 Paris, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Zenaty
authors.affiliation: Service d'Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, Hôpitaux Universitaires Pitié-Salpêtrière - Charles Foix, Paris, France.
authors.forename: Carine
authors.initials: C
authors.lastname: Courtillot
authors.affiliation: Service d'Endocrinologie et Maladies de la Reproduction, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, CHU de Bicêtre, le Kremlin-Bicêtre, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Salenave
authors.affiliation: Hospices civils de Lyon, Fédération d'Endocrinologie, Groupement hospitalier Est, Bron, France.
authors.forename: Aude
authors.initials: A
authors.lastname: Brac de la Perrière
authors.affiliation: Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344 cedex 15, Marseille, France APHM, Hôpital Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, 13385 cedex 15, Marseille, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Albarel
authors.affiliation: Service d'Endocrinologie Diabète et Nutrition, CHU de Reims, Reims, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Fèvre
authors.affiliation: Service d'Endocrinologie, Diabétologie et Maladies métaboliques, CHU site de la Cavale-Blanche, Brest, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Kerlan
authors.affiliation: Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344 cedex 15, Marseille, France APHM, Hôpital Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, 13385 cedex 15, Marseille, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Brue
authors.affiliation: Service d'Endocrinologie Diabète et Nutrition, CHU de Reims, Reims, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Delemer
authors.affiliation: Hospices civils de Lyon, Fédération d'Endocrinologie, Groupement hospitalier Est, Bron, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Borson-Chazot
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, F-75019 Paris, France AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019 Paris, France Institut National de la Santé et de la Recherche Médicale U1141, F-75019 Paris, France.
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Carel
authors.affiliation: Service d'Endocrinologie et Maladies de la Reproduction, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, CHU de Bicêtre, le Kremlin-Bicêtre, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Chanson
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, F-75019 Paris, France AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019 Paris, France Institut National de la Santé et de la Recherche Médicale U1141, F-75019 Paris, France.
authors.forename: Juliane
authors.initials: J
authors.lastname: Léger
authors.affiliation: Service d'Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, Hôpitaux Universitaires Pitié-Salpêtrière - Charles Foix, Paris, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
authors.affiliation: Université Pierre et Marie Curie, F-75012 Paris, France Service d'Endocrinologie et Maladies de la Reproduction, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CRMERC), Assistance Publique - Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France sophie.christin-maitre@aphp.fr.
authors.forename: Sophie
authors.initials: S
authors.lastname: Christin-Maitre
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D005298:Fertility; D005500:Follow-Up Studies; D005602:France / Q000453:epidemiology; D006801:Humans; D008572:Menarche; D008875:Middle Aged; D009030:Mosaicism; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000235:genetics / Q000503:physiopathology*; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D016649:Primary Ovarian Insufficiency / Q000209:etiology*; D012042:Registries; D017584:Reproductive History; D061685:Time-to-Pregnancy; D014424:Turner Syndrome / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult
keywords: Turner syndrome; female infertility; fertility preservation; monosomy X; primary ovarian insufficiency