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Article ; Online: La prolactine et son récepteur : Des modèles animaux à la physiopathologie hypophysaire.

Begon, Emmanuelle / Bernard, Valérie

Biologie aujourd'hui

2023 Volume 216, Issue 3-4, Page(s) 105–110

Abstract: Prolactin (PRL) is a polypeptide hormone that is mainly synthesized and secreted by lactotroph cells of the anterior pituitary gland. The actions of prolactin are mediated by its transmembrane receptor, PRLR. The principal role attributed to PRL is to ... ...

Title translation	Prolactin and its receptor: From animal models to pituitary pathophysiology.
Abstract	Prolactin (PRL) is a polypeptide hormone that is mainly synthesized and secreted by lactotroph cells of the anterior pituitary gland. The actions of prolactin are mediated by its transmembrane receptor, PRLR. The principal role attributed to PRL is to stimulate the proliferation and differentiation of the mammary cells required for lactation, but studies of animal models have assigned more than 300 separate actions to this hormone in various species. Hyperprolactinaemia is the prototypical pathological state associated with this hormone. Indeed, hyperprolactinaemia is the most common cause of amenorrhoea due to hypogonadotropic anovulation and is one of the most prevalent endocrine causes of infertility in women. In recent years, the study of conditional or complete Prlr
MeSH term(s)	Animals ; Female ; Humans ; Mice ; Hyperprolactinemia/complications ; Kisspeptins ; Models, Animal ; Prolactin/genetics ; Receptors, Prolactin/genetics
Chemical Substances	Kisspeptins ; Prolactin (9002-62-4) ; Receptors, Prolactin
Language	French
Publishing date	2023-02-06
Publishing country	France
Document type	English Abstract ; Journal Article
ISSN	2105-0686
ISSN (online)	2105-0686
DOI	10.1051/jbio/2022019
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Article ; Online: Gonad differentiation toward ovary.

Lamothe, Sophie / Bernard, Valérie / Christin-Maitre, Sophie

Annales d'endocrinologie

2020 Volume 81, Issue 2-3, Page(s) 83–88

Abstract: Gonad differentiation depends on a set of cellular and hormonal signals interacting in a specific order, with very precise windows of action, to contribute to the establishment of the genital tract and a male or female phenotype. Research initially ... ...

Abstract	Gonad differentiation depends on a set of cellular and hormonal signals interacting in a specific order, with very precise windows of action, to contribute to the establishment of the genital tract and a male or female phenotype. Research initially focused on the stages of gonad differentiation toward testis, in particular following the identification in 1990 of the SRY factor on chromosome Y. The mechanisms involved in gonad differentiation toward ovary took longer to identify. Thanks to patients with different sexual development (DSD) and animal knock-out models, description of the cascades involved in the activation and maintenance of ovarian development has progressed considerably in recent years.
MeSH term(s)	Animals ; Cell Differentiation/genetics ; Female ; Gene Expression Regulation, Developmental ; Gonads/embryology ; Gonads/growth & development ; Gonads/physiology ; Humans ; Male ; Ovary/embryology ; Ovary/growth & development ; Ovary/physiology ; Phenotype ; Sex Determination Processes/physiology ; Sex Differentiation/genetics ; Sexual Development/genetics ; Sexual Development/physiology
Language	English
Publishing date	2020-04-15
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2020.04.004
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Uh III Zs.132: Show issues

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Article ; Online: Contraception œstroprogestative et spironolactone dans l’hirsutisme: efficacité et impact sur la qualité de vie.

Lefoulon, Nina / Begon, Emmanuelle / Perrissin-Fabert, Marie / Grouthier, Virginie / Hocke, Claude / Bernard, Valérie

Gynecologie, obstetrique, fertilite & senologie

2022 Volume 50, Issue 9, Page(s) 591–599

Abstract: Objectives: Combined oral contraceptives (COC) and spironolactone are the first and second-line treatments of mild hirsutism, since the use of cyproterone acetate was restricted to the treatment of severe hirsutism by the French guidelines for ... ...

Title translation	Impact of combined oral contraceptives and spironolactone on hirsutism and quality of life.
Abstract	Objectives: Combined oral contraceptives (COC) and spironolactone are the first and second-line treatments of mild hirsutism, since the use of cyproterone acetate was restricted to the treatment of severe hirsutism by the French guidelines for hyperandrogenism published in May 2020. Because spironolactone was until now barely used in France, the aim of this study was to evaluate the indication, efficacy and impact on quality of life of COC and spironolactone treatments on mild hirsutism in non-menopausal women. Methods: This retrospective monocentric study was conducted between June 2020 and October 2021. It included patients with mild hirsutism who received a prescription of COC or/and spironolactone. Modified Ferriman and Gallwey score (FGm) was performed by clinicians and self-rated by patients during the follow-up. Hirsutism-related quality of life was assessed using the Dermatology Life Quality Index (DLQI) and a visual analog scale. Results: A total of 44 patients were included, but only 30 patients received the treatment for 6 months. 70% of patients were free of side effects. Clinically we observed a decrease of 26% in the FGm score rated by clinicians and patients after 6 months of treatment (P<0,01). This was not correlated with an improvement in quality of life. Conclusions: The data collected showed the clinical efficacy of both COC and spironolactone in the treatment of mild hirsutism. These two treatments were well-tolerated. However, the quality of life scores did not improve after 6 months. These treatments should be evaluated after a longer period.
MeSH term(s)	Contraceptives, Oral, Combined/therapeutic use ; Female ; Hirsutism/drug therapy ; Humans ; Quality of Life ; Retrospective Studies ; Spironolactone/therapeutic use
Chemical Substances	Contraceptives, Oral, Combined ; Spironolactone (27O7W4T232)
Language	French
Publishing date	2022-06-10
Publishing country	France
Document type	Journal Article
ZDB-ID	2887456-0
ISSN	2468-7189
ISSN (online)	2468-7189
DOI	10.1016/j.gofs.2022.06.001
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Article ; Online: Using serum anti-Müllerian hormone levels to predict the chance of live birth after spontaneous or assisted conception: a systematic review and meta-analysis.

Peigné, Maeliss / Bernard, Valérie / Dijols, Laura / Creux, Hélène / Robin, Geoffroy / Hocké, Claude / Grynberg, Michaël / Dewailly, Didier / Sonigo, Charlotte

Human reproduction (Oxford, England)

2023 Volume 38, Issue 9, Page(s) 1789–1806

Abstract: Study question: Is serum anti-Müllerian hormone (AMH) level predictive of cumulative live birth (CLB) rate after ART or in women trying to conceive naturally?: Summary answer: Serum AMH level is linked to CLB after IVF/ICSI but data are lacking after ...

Abstract	Study question: Is serum anti-Müllerian hormone (AMH) level predictive of cumulative live birth (CLB) rate after ART or in women trying to conceive naturally? Summary answer: Serum AMH level is linked to CLB after IVF/ICSI but data are lacking after IUI or in women trying to conceive without ART. What is known already: Serum AMH level is a marker of ovarian reserve and a good predictor of ovarian response after controlled ovarian stimulation. It is unclear whether AMH measurement can predict CLB in spontaneous or assisted conception. Study design, size, duration: A systematic review and meta-analysis was undertaken to assess whether serum AMH level may predict chances of CLB in infertile women undergoing IVF/ICSI or IUI and/or chances of live birth in women having conceived naturally. Participants/materials, setting, methods: A systematic review and meta-analysis was performed using the following keywords: 'AMH', 'anti-mullerian hormone', 'live-birth', 'cumulative live birth'. Searches were conducted from January 2004 to April 2021 on PubMed and Embase. Two independent reviewers carried out study selection, quality, and risk of bias assessment as well as data extraction. Odds ratios were estimated using a random-effect model. Pre-specified sensitivity analyses and subgroup analyses were performed. The primary outcome was CLB. Main results and the role of chance: A total of 32 studies were included in the meta-analysis. Overall, 27 articles were included in the meta-analysis of the relation between AMH and CLB or AMH and LB after IVF/ICSI. A non-linear positive relation was found in both cases. A polynomial fraction was the best model to describe it but no discriminant AMH threshold was shown, especially no serum AMH level threshold below which live birth could not be achieved after IVF/ICSI. After IVF-ICSI, only four studies reported CLB rate according to AMH level. No statistically significant differences in mean serum AMH levels were shown between patients with and without CLB, but with a high heterogeneity. After exclusion of two studies with high risks of bias, there was no more heterogeneity [I2 = 0%] and the mean AMH level was statistically significantly higher in women with CLB. There were not enough articles/data to assess the ability of AMH to predict CLB rate or find an AMH threshold after IUI or in women without history of infertility trying to conceive without ART. Limitations, reasons for caution: The systematic review and meta-analysis had some limitations owing to the limits and bias of the studies included. In the present meta-analysis, heterogeneity may have been caused by different baseline characteristics in study participants, different stimulating protocols for ART, different serum AMH level thresholds used and the use of various assays for serum AMH. This could explain, in part, the absence of a discriminating AMH threshold found in this analysis. Wider implications of the findings: Serum AMH level is linked to CLB rate after IVF/ICSI but no discriminating threshold can be established, therefore low serum AMH level should not be used as the sole criterion for rejecting IVF treatment, especially in young patients. Data are lacking concerning its predictive value after IUI or in women trying to conceive without ART. Our findings may be helpful to counsel candidate couples to IVF-ICSI. Study funding/competing interests: No external funding was obtained for this study. There are no conflicts of interest. Registration number: PROSPERO CRD42021269332.
MeSH term(s)	Pregnancy ; Humans ; Female ; Infertility, Female/therapy ; Pregnancy Rate ; Anti-Mullerian Hormone ; Live Birth ; Fertilization in Vitro/methods ; Birth Rate ; Retrospective Studies
Chemical Substances	Anti-Mullerian Hormone (80497-65-0)
Language	English
Publishing date	2023-07-20
Publishing country	England
Document type	Meta-Analysis ; Systematic Review ; Journal Article
ZDB-ID	632776-x
ISSN	1460-2350 ; 0268-1161 ; 1477-741X
ISSN (online)	1460-2350
ISSN	0268-1161 ; 1477-741X
DOI	10.1093/humrep/dead147
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Article ; Online: Prolactin - a pleiotropic factor in health and disease.

Bernard, Valérie / Young, Jacques / Binart, Nadine

Nature reviews. Endocrinology

2019 Volume 15, Issue 6, Page(s) 356–365

Abstract: The principal role of prolactin in mammals is the regulation of lactation. Prolactin is a hormone that is mainly synthesized and secreted by lactotroph cells in the anterior pituitary gland. Prolactin signalling occurs via a unique transmembrane ... ...

Abstract	The principal role of prolactin in mammals is the regulation of lactation. Prolactin is a hormone that is mainly synthesized and secreted by lactotroph cells in the anterior pituitary gland. Prolactin signalling occurs via a unique transmembrane prolactin receptor (PRL-R). The structure of the PRL-R has now been elucidated and is similar to that of many biologically fundamental receptors of the class 1 haematopoietic cytokine receptor family such as the growth hormone receptor. The PRL-R is expressed in a wide array of tissues, and a growing number of biological processes continue to be attributed to prolactin. In this Review, we focus on the newly discovered roles of prolactin in human health and disease, particularly its involvement in metabolic homeostasis including body weight control, adipose tissue, skin and hair follicles, pancreas, bone, the adrenal response to stress, the control of lactotroph cell homeostasis and maternal behaviour. New data concerning the pathological states of hypoprolactinaemia and hyperprolactinaemia will also be presented and discussed.
MeSH term(s)	Animals ; Female ; Genetic Pleiotropy/physiology ; Health Status ; Homeostasis/physiology ; Humans ; Hyperprolactinemia/genetics ; Hyperprolactinemia/metabolism ; Osteoporosis/genetics ; Osteoporosis/metabolism ; Prolactin/deficiency ; Prolactin/genetics ; Prolactin/metabolism ; Receptors, Prolactin/genetics ; Receptors, Prolactin/metabolism
Chemical Substances	Receptors, Prolactin ; Prolactin (9002-62-4)
Language	English
Publishing date	2019-03-19
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2489381-X
ISSN	1759-5037 ; 1759-5029
ISSN (online)	1759-5037
ISSN	1759-5029
DOI	10.1038/s41574-019-0194-6
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Zs.A 6336: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: How can we make pregnancy safe for women with Turner syndrome?

Donadille, Bruno / Bernard, Valérie / Christin-Maitre, Sophie

American journal of medical genetics. Part C, Seminars in medical genetics

2019 Volume 181, Issue 1, Page(s) 100–107

Abstract: Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal ...

Abstract	Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal mortality rate that is higher than in the general population. It is related to cardiovascular anomalies and particularly aortic dissection. TS, per se, is not a contraindication for pregnancy, but a multidisciplinary screening is mandatory before initiating a pregnancy. It includes repeated aortic diameters evaluation, blood pressure measurement and biological testing evaluating thyroid and liver functions, as well as blood glucose level. In order to make the pregnancy safe, contraindications of pregnancy should be respected and identification of high-risk patients for cardiovascular events should be performed. Hypertension and pre-eclampsia prevention may benefit from beta-blockers and aspirin, respectively. Collaborations between endocrinologists, cardiologists, and obstetricians are mandatory during pregnancy and even in the postpartum period. Counseling the patients about the risks of pregnancy, screening them and spreading the international guidelines to physicians taking care of patients with TS are the three pillars of a safe pregnancy.
MeSH term(s)	Female ; Humans ; Oocyte Donation ; Pregnancy ; Pregnancy Complications, Cardiovascular ; Risk Assessment ; Turner Syndrome/complications ; Turner Syndrome/physiopathology
Language	English
Publishing date	2019-02-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31682
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Article ; Online: Gynaecological follow-up for women of reproductive age with multiple sclerosis: The GYNESEP study.

Renaud, Juliette / Buissonnière, Pauline / Dulau, Cécile / Deloire, Mathilde / Hontarrede, Florian / Montcuquet, Alexis / Chansel-Debordeaux, Lucie / Hocké, Claude / Ouallet, Jean-Christophe / Ruet, Aurélie / Bernard, Valérie

Multiple sclerosis and related disorders

2024 Volume 83, Page(s) 105448

Abstract: Background: The gynaecological care of women with Multiple Sclerosis has received little attention; most reports focussed on pregnancy or sexuality. The objective of the present study was to evaluate if gynaecological follow-up for women of reproductive ...

Abstract	Background: The gynaecological care of women with Multiple Sclerosis has received little attention; most reports focussed on pregnancy or sexuality. The objective of the present study was to evaluate if gynaecological follow-up for women of reproductive age with Multiple Sclerosis was adequate. Methods: We performed a cross-sectional study on a large cohort of women with Multiple Sclerosis aged 18-40 years. All participants completed online questionnaires on general health status, gynaecological follow-up, and sexuality. Expanded Disability Status Scale (EDSS) scores were extracted from medical records. The study was registered in clinicaltrials.gov with the number NCT05248438, and in the European database ID-RCB with the number 2021-A02912-39. Results: Of the 192 patients who completed questionnaires, 157 (82.2%) reported gynaecological follow-up. Of the 155 patients on immunosuppressive treatments, only 31 (20%) underwent annual cervical screening. Of the 140 patients who met the French papillomavirus vaccination age recommendations, only 50 (35.7%) were vaccinated. A total of 128 (66.7%) patients used contraception. However, 16 (8.3%) patients reported unplanned pregnancies since the time of diagnosis. Conclusion: Women with Multiple Sclerosis require more information on reproductive health and prevention of cancer. Better contraceptive advice would reduce the number of unplanned pregnancies and avoid foetal exposure to potentially teratogenic treatment.
MeSH term(s)	Pregnancy ; Humans ; Female ; Cross-Sectional Studies ; Multiple Sclerosis/epidemiology ; Early Detection of Cancer ; Follow-Up Studies ; Papillomavirus Infections ; Papillomavirus Vaccines ; Uterine Cervical Neoplasms
Chemical Substances	Papillomavirus Vaccines
Language	English
Publishing date	2024-01-14
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2645330-7
ISSN	2211-0356 ; 2211-0348
ISSN (online)	2211-0356
ISSN	2211-0348
DOI	10.1016/j.msard.2024.105448
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Article ; Online: Fertility Outcomes after Surgical Management of Colorectal Endometriosis: A Single-center Retrospective Study.

Hezer, Sophie / Chauvin, Géraldine / Klein, Clément / Bernard, Valérie / Brun, Jean-Luc / Launay-Savary, Marie-Véronique / Hocke, Claude

Journal of minimally invasive gynecology

2022 Volume 30, Issue 3, Page(s) 230–239

Abstract: Study objective: To assess the pregnancy rate after surgery for colorectal endometriosis.: Design: A retrospective, single-center study performed from January 2014 to December 2019.: Setting: A university tertiary referral center.: Patients: ... ...

Abstract	Study objective: To assess the pregnancy rate after surgery for colorectal endometriosis. Design: A retrospective, single-center study performed from January 2014 to December 2019. Setting: A university tertiary referral center. Patients: Patients with the intention to get pregnant younger than the age of 43 years, with or without a history of infertility and who were surgically managed for colorectal endometriosis. Interventions: Complete excision of deeply infiltrating endometriosis. Measurements and main results: The postoperative pregnancy rate was assessed. Seventy-seven patients had surgery; their mean age was 32.5 ± 4.4 years. Preoperative documented infertility was present in 77.9% of patients (n = 60). The mean length of history of infertility was 36.2 ± 24.9 months. The procedure was performed by laparoscopic surgery in 92.2% of patients (n = 71). Nonconservative, conservative, and mixed treatment were performed in 66.2% (n = 51), 29.9% (n = 23), and 3.9% of patients (n = 3), respectively. According to the Clavien-Dindo classification, the 3B complication rate was 6.5% (n = 5). The mean follow-up was 46.7 ± 20.6 months. Clinical pregnancies were defined by the presence of intrauterine pregnancy with an embryo with cardiac activity. The postoperative pregnancy rate was 62.3% (n = 48), and 54.2% (n = 26) were spontaneous. The mean number of pregnancies was 1.2 ± 0.4 per patient. In addition, 18.7% of patients (n = 9) got pregnant twice. The mean time from surgery to pregnancy was 13.8 ± 13.1 months. The live birth rate was 89.1% (n = 41). There were no significant differences concerning the prognostic criteria reported in the literature (antimüllerian hormone level, age, presence of adenomyosis). There were no predictive criteria for live births. Conclusion: According to this study, surgery for colorectal endometriosis results in a high postoperative pregnancy rate. Studies with a high level of evidence are needed to determine good candidates for this type of surgery.
MeSH term(s)	Pregnancy ; Female ; Humans ; Adult ; Endometriosis/complications ; Endometriosis/surgery ; Retrospective Studies ; Fertility ; Infertility, Female/surgery ; Infertility, Female/complications ; Pregnancy Rate ; Laparoscopy/methods ; Colorectal Neoplasms/complications ; Colorectal Neoplasms/surgery ; Treatment Outcome
Language	English
Publishing date	2022-12-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	2186934-0
ISSN	1553-4669 ; 1553-4650
ISSN (online)	1553-4669
ISSN	1553-4650
DOI	10.1016/j.jmig.2022.12.005
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Article ; Online: Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Clinical genetics

2024

Abstract: Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular ... ...

Abstract	Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR. We studied the whole coding region of the FOXL2 gene using next-generation sequencing in 1282 patients with non-syndromic POI/DOR. Each identified FOXL2 variant was compared to its frequency in the general population, considering ethnicity. Screening of the entire coding region of the FOXL2 gene allowed us to identify 10 different variants, including nine missense variants. Of the patients with POI/DOR, 14 (1%) carried a FOXL2 variant. Significantly, six out of nine missense variants (67%) were overrepresented in our POI/DOR cohort compared to the general or specific ethnic subgroups. Our findings strongly suggest that five rare missense variants, mainly located in the C-terminal region of FOXL2 are high-risk factors for non-syndromic POI/DOR, though FOXL2 gene implication accounts for approximately 0.54% of non-syndromic POI/DOR cases. These results support the implementation of routine genetic screening for patients with POI/DOR in clinical settings.
Language	English
Publishing date	2024-04-01
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14526
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Article ; Online: MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Bernard, Valérie / Donadille, Bruno / Le Poulennec, Tiphaine / Nedelcu, Mariana / Martinerie, Laetitia / Christin-Maitre, Sophie

European journal of endocrinology

2019 Volume 180, Issue 1, Page(s) R1–R7

Abstract: Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease ... ...

Abstract	Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality. The loss to follow-up rate, during transition, between children and adult units, remains a crucial issue. This review focusses on the adolescent and young adult patients with TS. The different goals of TS transition are presented as well as some of the tools available in order to improve this transition. The involvement of the patient’s family, advocacy groups and therapeutic educational programs are discussed. A specificity concerning TS transition, as compared to other chronic diseases, relies on the fact that patients with TS may present a peculiar neurocognitive profile. They are in general more anxious than the general population. Therefore, psychological support should be offered to optimize transition. Data illustrating the beneficial impact of an organised transition of TS, from paediatric units to multidisciplinary adult care systems, within the same reference centre are presented. Further studies are required to evaluate the mid-to-long-term transition of paediatric patients with TS referred to adult units.
Language	English
Publishing date	2019-02-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1183856-5
ISSN	1479-683X ; 0804-4643
ISSN (online)	1479-683X
ISSN	0804-4643
DOI	10.1530/EJE-18-0238
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