Publications by authors named "Iphigenie Cavadias"
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.
Article Synopsis
- Next-generation sequencing (NGS) has helped uncover genetic causes of primary ovarian insufficiency (POI), while the reasons for diminished ovarian reserve (DOR) are less understood.
- A 14-year-old patient with isolated DOR was found to have two frameshift mutations in the BRCA1 gene, but surprisingly showed no signs of Fanconi anemia (FA).
- Despite the absence of FA symptoms, the patient's cells exhibited high chromosomal fragility, and studies indicated a shortened version of the BRCA1 protein was produced, suggesting that BRCA1 is crucial for ovarian health and functioning.
Article Synopsis
- Craniopharyngioma is a benign brain tumor that often leads to GH deficiency in children, prompting the use of growth hormone replacement therapy (GHRT).
- A study analyzed the timing of GHRT initiation post-treatment in 71 affected patients, grouping them based on whether they started treatment before or after 12 months.
- Results showed no significant difference in the risk of tumor recurrence or progression between patients who started GHRT sooner versus those who waited longer, indicating that the timing of therapy may not impact clinical outcomes.
Differences or Disorders of sex development in Boys: impact on fertility.
Ann Endocrinol (Paris)
June 2022
Differences or disorders of sex development (DSD) include various congenital conditions in which chromosomal, gonadal, or anatomical sex development is atypical. The incidence varies according to the category of DSD but the total incidence is high if hypospadias and undescended testes are included. Fertility prospects may be a concern for DSD patients and their parents.
View Article and Find Full Text PDFBreast cancer is the most frequently diagnosed cancer in women and the first cause of cancer death in France. Among the different subtypes of breast cancer, the predominant form is characterized by positive hormone receptors (more than 70% of breast cancers). Hormone therapy thus plays a key role in the strategy of management of these cancers both in adjuvant and metastatic situations.
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