罕见病转诊中心所见儿童及青少年的妇科问题：一项观察性回顾性队列研究
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
作者信息
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
机构信息
Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.
Gynecology Department, Port-Royal University Hospital, AP-HP Centre, 75014, Paris, France.
出版信息
Orphanet J Rare Dis. 2025 Mar 11;20(1):117. doi: 10.1186/s13023-025-03618-2.
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.
背景
目前儿童和青少年妇科服务的发展旨在满足普通人群以及罕见病患者的需求。在法国，罕见妇科疾病转诊中心专门诊治四种主要类型的病症，即子宫阴道畸形、遗传性出血性疾病、罕见良性乳腺疾病以及罕见慢性病的妇科影响。
目的
描述2018年至2023年在法国巴黎内克尔儿科大学医院罕见妇科疾病转诊中心首次就诊且被诊断患有上述四类病症中任何一种的连续患者。
材料与方法
对于这项单中心回顾性观察队列研究，收集并审查了转诊中心数据库中的数据。这些数据包括出生年份、首次妇科就诊时的年龄和原因，以及患有罕见慢性病妇科影响的患者的罕见慢性病和转诊罕见病中心。
结果
纳入的704例患者首次就诊时的中位年龄为15.2岁（四分位间距为3.8）。其中，100例（14.2%）患有子宫阴道畸形，32例（4.6%）患有遗传性出血性疾病，17例（2.4%）患有罕见良性乳腺疾病，555例（78.8%）患有罕见慢性病的妇科影响。就诊的主要原因是痛经（15.6%）、月经过多（15.5%）、子宫阴道畸形（15.2%）和月经不规律（14.9%）。
结论
在罕见病转诊中心诊治的罕见慢性病的影响是寻求罕见病妇科专业知识的主要原因。在这种复杂情况下，基础疾病及其治疗与妇科表现及其治疗相互作用，需要所有照顾每位患者的专科医生密切合作。
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