French national reference center for rare gynecological pathologies (PGR)
The coordinating center for rare gynecological pathologies (PGR) at Necker-Enfants malades hospital is renowned for its care of girls and young women with uterovaginal malformations, in particular Rokitansky syndrome.
Multidisciplinary medical, surgical and, if necessary, psychological care is offered by healthcare professionals who know these particularities inside out. Research is also underway to understand the genetic mechanisms behind these malformations.
We also support young girls already being treated for rare diseases that may have gynecological repercussions. This is the case for young girls suffering from hemostasis pathologies, who are at risk of genital hemorrhage, and whose care is provided jointly by hematologists and gynecologists.
Our gynecologists provide gynecological care for young girls with rare diseases that can have an impact on pubertal development, ovarian function, sexual function and body image, and who require specific expertise for hormone treatment or contraception.
Some breast pathologies appear during puberty, so our center also treats rare breast pathologies.
This reference center is affiliated with the FIRENDO rare diseases healthcare network and the ENDO-ERN European reference network.
Key words: Rokitansky, genital malformation, hemostasis disease, breast pathology, gynecological repercussions, puberty, hemorrhagic periods, contraception, sexuality.
Press review
Lack of a uterus and vagina: Rokitansky syndrome
Doctissimo | 2.28.2020
One in 4,500 women worldwide is born without a uterus and a vagina – this is called Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), or Rokitansky syndrome. Read more in French >>
Medical
team
Pr Michel Polak
MD, PhD
Contact us
Phone. +33 (0)1 44 48 17 96 or +33 (0)1 44 49 48 02
Regarding the care of Rokitansky syndrome, please contact Magali Viaud directly (coordinator of the rare disease center)
Phone. +33 (0)1 71 19 64 38
In case of emergency
I am under a regular care for a pathology of hemostasis: my periods are heavy:
> When to worry? How to proceed?
> How do I complete my Higham scorecard?
Doctors files
> Monitoring and care of ovarian function in galactosemic patients
> Management of adolescent menometrorrhagias known for an abnormal hemostasis
Rare benign breast pathologies
- giant fibroadenoma
- mammary polyadenomatosis
- gigantomastia
- rare breast malformation
Utero-vaginal malformations
- utero-vaginal aplasia or Rokitansky-Kuster-Hauser syndrome (MRKH)
> frequently asked questions - utero-vaginal duplicity with blind hemivagina
- …
Gynecological repercussions of hereditary hemorrhagic diseases exposing to severe genital hemorrhages
- prevention
- care
Gynecological repercussions of rare chronic diseases
- on puberty
- ovarian function
- sexual initiation
- the prescription of a contraception or a replacement hormonal therapy …
FREQUENTLY ASKED QUESTIONS
Therapeutic education program for young girls with Rokitansky syndrome
Care of menstruation in young girls with a pathology of hemostasis
National diagnostic and care protocols (PNDS) (in French)
- Utero-vaginal aplasias – Mayer-Rokitansky-Kuster-Hauser syndrome (2021)
- European Consensus Statement on congenital hypogonadotropic hypogonadism (2015)
- Recommandations de prise en charges des premières règles des jeunes filles atteintes d’une pathologie hémorragique de l’hémostase (2014)
- Annonce diagnostique d’un syndrome d’insensibilité complète aux androgènes (2014)
- Hyperplasie congénitale des surrénales, information aux couples à risques (2014)
- Thrombose artérielle et veineuse dans le cadre de l’AMP : prévention et prise en charge : reconnaissance par consensus formalisée (2013)
- Annonce diagnostique d’une insuffisance ovarienne prématurée (2013)
- Annonce diagnostique d’hypogonadisme hypogonadotrophique congénital (2013)
- Reprise de l’annonce diagnostique à l’âge adulte forme classique d’hyperplasie congénitale des surrénales (2012)
- Annonce diagnostique du syndrome de Turner en service adulte (2012)
- Recommandations pour annonce diagnostique du risque hémorragique lié aux règles chez les patientes atteinte d’une pathologie de l’hémostase (2012)
- Recommandations pour annonce diagnostique une insuffisance ovarienne prématurée dans le cadre de la galactosémie (2012)
- Recommandations pour annoncer le syndrome de Rokitansky (2011)
- Consensus insuffisances surrénaliennes, hyperplasie congénitale des surrénales (2011)
- Consensus syndrome de Turner (2008)
- Contraception et pathologies cardiaques congénitales
Procedures to be followed (in French)
Pr Michel Polak, medical manager of the pediatric endocrinologist reference center
Dr Maud Bidet, medical gynecologist
Dr Sabrina Da Costa, medical gynecologist
Dr Alaa Cheikhelard, surgeon (specialized in gynecological surgery)
Chloé Ouallouche, psychologist
Karinne Gueniche, psychologist
Magali Viaud, coordinator of rare disease centers – clinical research
Research
Molecular genetics of Rokitansky syndrome (Clinical trial: NCT01911884). Pr Stanislas Lyonnet / Pr Michel Polak. (inclusion in progress)
Education
Inter-university diploma in childhood and adolescent gynecology
Medicine faculty of Paris-Descartes jointly with the universities of Montpellier, Lille and Toulouse
Publications
2021
– Puberty and fertility in classic galactosemia.
Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, Michel Polak
Endocr Connect, 2021 Feb, PMID: 33491660 PMCID: PMC7983486 DOI: 10.1530/EC-21-0013
– Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Na Chen, Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan, Shaoke Chen, André Koch 8, Congcong Ma, Weijie Tian, Ziqi Jia, Jia Kang, Lina Zhao, Chenglu Qin et al.
Am J Hum Genet, 2021 Feb 4, PMID: 33434492 PMCID: PMC7896104 DOI: 10.1016/j.ajhg.2020.12.014
– Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Sophie Christin-Maitre, Maria Givony, Frédérique Albarel, Anne Bachelot, Maud Bidet, Jean Victor Blanc, Claire Bouvattier, Aude Brac de la Perrière, Sophie Catteau-Jonard, Nicolas Chevalier et al.
Ann Endocrinol (Paris), 2021 Dec, PMID: 34508691 DOI: 10.1016/j.ando.2021.09.001
– SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Sophie Lambert, Matthieu Peycelon, Dinane Samara-Boustani, Capucine Hyon, Laurence Dumeige, Michel Peuchmaur, Elodie Fiot, Juliane Léger et al.
Clin Endocrinol (Oxf), 2021 Apr, PMID: 33296530 DOI: 10.1111/cen.14389
– Transition of young adults with endocrine and metabolic diseases: the »TRANSEND » cohort.
Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Léger, Stephane Hatem, Michel Polak, Christine Poitou, Philippe Touraine
Endocr Connect, 2021 Jan, PMID: 33263561 PMCID: PMC7923139 DOI: 10.1530/EC-20-0520
2020
– Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Lijun Fan, Yanning Song, Michel Polak, Lele Li, Xiaoya Ren, Beibei Zhang, Di Wu,Chunxiu Gong
Mol Genet Genomic Med, 2020 Oct, PMID: 32713132 PMCID: PMC7549558 DOI: 10.1002/mgg3.1431
2017
– Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency
Bachelot A, Nicolas C, Bidet M, Dulon J, Leban M, Golmard JL, Polak M, Touraine P
Clin Endocrinol (Oxf), 2017 Feb, PMID: 27177971 DOI: 10.1111/cen.13105
2016
– Fertility preservation in Turner syndrome
Grynberg M, Bidet M, Benard J, Poulain M, Sonigo C, Cédrin-Durnerin I, Polak M.
Fertil Steril, 2016 Jan, PMID: 26677790 DOI: 10.1016/j.fertnstert.2015.11.042
Contact information
Necker-Enfants malades university hospital
> Pediatric endocrinology, diabetology and gynecology department
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the reference center for rare gynecological pathologies (PGR) in brief …
* data valid for 2022
