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  1. Fulltext Role of laparoscopy and ultrasound in the management of "impalpable testis" in children
    Budianto IR, Tan HL, Kinoshita Y, Tamba RP, Leiri S, Taguchi T
    Asian J Surg, 2014 Oct;37(4):200-4.
    PMID: 24661449 DOI: 10.1016/j.asjsur.2014.01.013
    Undescended testes is one of the most common congenital abnormalities in boys. In cases of impalpable testes, ultrasound is often used to find the testis, which frequently provides false-negative results. Recently, laparoscopy has become popular in the management of impalpable testes.
    Matched MeSH terms: Gonadal Dysgenesis, 46,XY/diagnosis*; Gonadal Dysgenesis, 46,XY/ultrasonography*
  2. Prophylactic gonadectomy in 46 XY females; why, where and when?
    Basri NI, Soon CH, Ali A, Abdul Ghani NA, Zainuddin AA
    Horm Mol Biol Clin Investig, 2021 Mar 08;42(3):325-328.
    PMID: 33675193 DOI: 10.1515/hmbci-2021-0001
    OBJECTIVES: We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy.

    CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.

    CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

    Matched MeSH terms: Gonadal Dysgenesis, 46,XY/diagnosis; Gonadal Dysgenesis, 46,XY/surgery*
  3. Fulltext Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus
    Azidah A, Nik Hazlina N, Aishah M
    Malays Fam Physician, 2013;8(2):58-61.
    PMID: 25606286 MyJurnal
    Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they have streak gonads. We are reporting a case of Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. The patient was treated with hormonal therapy and few years after her presentation, breast and uterine development were noted. In view that the patient is already married, the option of fertility was discussed with her. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counseling on the options of treatment, especially regarding fertility.
    Matched MeSH terms: Gonadal Dysgenesis, 46,XY
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