Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

Autor: Régis Coutant, Maud Bidet, Sophie Catteau-Jonard, Geneviève Plu-Bureau, Anne Bachelot, Lise Duranteau, Phillipe Touraine, Aude Brac de la Perriere, Juliane Léger, Justine Hugon-Rodin, Jean-Pierre Siffroi, Jean Victor Blanc, Véronique Kerlan, Michael Grynberg, Micheline Misrahi, Muriel Houang, Sophie Christin-Maitre, Jean Claude Carel, Michel Polak, Charlotte Sonigo, Delphine Zenaty, B. Donadille, Claire Bouvattier, Laïla El-Khattabi, Frédérique Albarel, Nicolas Chevalier, Maria Givony, Rachel Reynaud, Catherine Pienkowski
Přispěvatelé: Couvet, Sandrine, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre de référence des Maladies Endocriniennes Rares de la Croissance [CHU Saint-Antoine AP-HP] (CRMERC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Pitié-Salpêtrière [AP-HP], Clinique mutualiste La Sagesse, Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre [Lille], Université Côte d'Azur (UCA), Hôpital Robert Debré, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier Saint-Joseph [Paris], CHU Trousseau [APHP], AP-HP - Hôpital Antoine Béclère [Clamart], Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Robert Debré Paris, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Necker - Enfants Malades [AP-HP], Hôpital de la Timone [CHU - APHM] (TIMONE), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau]
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Adult
Anti-Mullerian Hormone
Pediatrics
medicine.medical_specialty
Hormone Replacement Therapy
Endocrinology
Diabetes and Metabolism

medicine.medical_treatment
[SDV]Life Sciences [q-bio]
Primary ovarian insufficiency
Premature ovarian insufficiency
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
MESH: Fragile X Mental Retardation Protein
X chromosome
Fragile X Mental Retardation Protein
Endocrinology
Turner syndrome
MESH: Follicle Stimulating Hormone
medicine
Hormonal replacement therapy
Humans
Chemotherapy
MESH: Humans
business.industry
Oocyte donation
MESH: Hormone Replacement Therapy
MESH: Adult
General Medicine
MESH: Primary Ovarian Insufficiency
medicine.disease
FMR1
Radiation therapy
[SDV] Life Sciences [q-bio]
MESH: France
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Transgender hormone therapy
Etiology
MESH: Anti-Mullerian Hormone
Female
France
Follicle Stimulating Hormone
business
FMR1 premutation
MESH: Female
Hormone
Zdroj: Annales d'Endocrinologie
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
ISSN: 0003-4266
2213-3941
DOI: 10.1016/j.ando.2021.09.001⟩
Popis: International audience; Premature ovarian insufficiency (POI) is a rare pathology affecting 1-2% of under-40 year-old women, 1 in 1000 under-30 year-olds and 1 in 10,000 under-20 year-olds. There are multiple etiologies, which can be classified as primary (chromosomal, genetic, auto-immune) and secondary or iatrogenic (surgical, or secondary to chemotherapy and/or radiotherapy). Despite important progress in genetics, more than 60% of cases of primary POI still have no identifiable etiology; these cases are known as idiopathic POI. POI is defined by the association of 1 clinical and 1 biological criterion: primary or secondary amenorrhea or spaniomenorrhea of>4 months with onset before 40 year of age, and elevated follicle-stimulating hormone (FSH)>25IU/L on 2 assays at>4 weeks' interval. Estradiol level is low, and anti-Müllerian hormone (AMH) levels have usually collapsed. Initial etiological work-up comprises auto-immune assessment, karyotype, FMR1 premutation screening and gene-panel study. If all of these are normal, the patient and parents may be offered genome-wide analysis under the "France Génomique" project. The term ovarian insufficiency suggests that the dysfunction is not necessarily definitive. In some cases, ovarian function may fluctuate, and spontaneous pregnancy is possible in around 6% of cases. In confirmed POI, hormone replacement therapy is to be recommended at least up to the physiological menopause age of 51 years. Management in a rare diseases center may be proposed.
Databáze: OpenAIRE