Orphanet journal of rare diseases · 2025
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Cavadias Iphigénie, Viaud Magali, Falampin Marie, Cheikhelard Alaa, Gueniche Karinne, Ouallouche Chloé, Samara-Boustani Dinane, Bonnet Damien, Bahi-Buisson Nadia, Quartier-Dit-Maire Pierre, Hadj-Rabia Smaïl, Heidet Laurence, Allali Slimane, de Lonlay Pascale, Amiel Jeanne, Nabbout Rima, Moshous Despina, Cormier-Daire Valérie, Picard Arnaud, Desguerre Isabelle, Sermet-Gaudelus Isabelle, Pinto Graziella, Bremond-Gignac Dominique, Ruemmele Frank, Girard Muriel, Abadie Véronique, James Syril, Harroche Annie, Polak Michel, Da Costa Sabrina
Аннотация
BACKGROUND: The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population and in patients with rare diseases. In France, the referral center for rare gynecological diseases specializes in four major types of conditions, namely, uterovaginal malformations, hereditary hemorrhagic diseases, rare benign breast diseases, and gynecological repercussions of rare chronic diseases.
OBJECTIVE: To describe consecutive patients who had a first visit in 2018-2023 at the referral center for rare gynecological diseases at the Necker Pediatric University Hospital in Paris, France, and who were diagnosed with a condition in any of the four categories listed above.
MATERIAL AND METHODS: For this single-center retrospective observational cohort study, data from the referral-center database were collected and reviewed. These data included year of birth, age at and reason for first gynecology visit, and rare chronic disease and referring rare-disease center for patients seen for gynecological repercussions of rare chronic diseases.
RESULTS: The 704 included patients had a median age of 15.2 years (interquartile range 3.8) at the first visit. Among them, 100 (14.2%) had uterovaginal malformations, 32 (4.6%) hereditary hemorrhagic diseases, 17 (2.4%) rare benign breast diseases, and 555 (78.8%) gynecological repercussions of rare chronic diseases. The leading reasons for the visit were dysmenorrhea (15.6%), menorrhagia (15.5%), uterovaginal malformations (15.2%), and irregular periods (14.9%).
CONCLUSION: Repercussions of rare chronic diseases managed at rare-disease referral centers were by far the leading reason for seeking gynecological expertise in rare diseases. In this complex situation, the underlying disease and its treatments interact with the gynecological manifestations and their treatment, requiring close collaboration among all specialists caring for each patient.
OBJECTIVE: To describe consecutive patients who had a first visit in 2018-2023 at the referral center for rare gynecological diseases at the Necker Pediatric University Hospital in Paris, France, and who were diagnosed with a condition in any of the four categories listed above.
MATERIAL AND METHODS: For this single-center retrospective observational cohort study, data from the referral-center database were collected and reviewed. These data included year of birth, age at and reason for first gynecology visit, and rare chronic disease and referring rare-disease center for patients seen for gynecological repercussions of rare chronic diseases.
RESULTS: The 704 included patients had a median age of 15.2 years (interquartile range 3.8) at the first visit. Among them, 100 (14.2%) had uterovaginal malformations, 32 (4.6%) hereditary hemorrhagic diseases, 17 (2.4%) rare benign breast diseases, and 555 (78.8%) gynecological repercussions of rare chronic diseases. The leading reasons for the visit were dysmenorrhea (15.6%), menorrhagia (15.5%), uterovaginal malformations (15.2%), and irregular periods (14.9%).
CONCLUSION: Repercussions of rare chronic diseases managed at rare-disease referral centers were by far the leading reason for seeking gynecological expertise in rare diseases. In this complex situation, the underlying disease and its treatments interact with the gynecological manifestations and their treatment, requiring close collaboration among all specialists caring for each patient.