دورية أكاديمية
أعرض في EDS

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.

التفاصيل البيبلوغرافية
العنوان: Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.
المؤلفون: Yu T; Department of Gynecology and Obstetrics, West China Xiamen Hospital of Sichuan University, Xiamen, China., Liu L; Department of Emergency, The First Affiliated Hospital of Jiamusi University, Jiamusi, Heilongjiang, China.
المصدر: Medicine [Medicine (Baltimore)] 2024 Jun 21; Vol. 103 (25), pp. e38297.
نوع المنشور: Journal Article; Case Reports
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
مواضيع طبية MeSH: Androgen-Insensitivity Syndrome*/genetics , Androgen-Insensitivity Syndrome*/diagnosis , Androgen-Insensitivity Syndrome*/complications , Gonadal Dysgenesis, 46,XY*/genetics , Gonadal Dysgenesis, 46,XY*/diagnosis, Humans ; Male ; Female ; Gonadoblastoma/genetics ; Gonadoblastoma/diagnosis ; Gonadoblastoma/surgery
مستخلص: Background: Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
Methods: We present 2 rare cases of 46, XY DSD, specifically XY pure gonadal dysgenesis and complete androgen insensitivity syndrome.
Results: Both cases underwent prophylactic gonadectomy due to the elevated risk of gonadal malignancy. Bilateral gonadoblastoma and dysgerminoma were diagnosed on one side, while Leydig cell hyperplasia and only Sertoli cells were diagnosed in the seminiferous tubules on both sides. The normal menstruation for the pure gonadal dysgenesis patient only as CAIS patients never menstruate. Estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation in pure gonadal dysgenesis case, as well as to prevent osteoporosis. Follow-up examinations revealed no tumor recurrence, and the patient with Swyer syndrome had regular menstrual cycles.
Conclusion: Laparoscopic bilateral prophylactic gonadectomy and long-term hormone therapy with patient counseling and support are recommended.
Competing Interests: All authors have no funding and conflicts of interest to disclose.
(Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)
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تواريخ الأحداث: Date Created: 20240621 Date Completed: 20240621 Latest Revision: 20240623
رمز التحديث: 20240623
مُعرف محوري في PubMed: PMC11191977
DOI: 10.1097/MD.0000000000038297
PMID: 38905377
قاعدة البيانات: MEDLINE
الوصف
تدمد:1536-5964
DOI:10.1097/MD.0000000000038297