Urban Aleksandra, Knap-Wielgus Weronika, Grymowicz Monika, Smolarczyk Roman
Students' Scientific Association, Department of Gynaecological Endocrinology, Medical University of Warsaw, Warsaw, Poland.
Department of Gynaecological Endocrinology, Medical University of Warsaw, Warsaw, Poland.
Prz Menopauzalny. 2021 Sep;20(3):158-161. doi: 10.5114/pm.2021.109361. Epub 2021 Sep 21.
Diagnosis of complete XY gonadal dysgenesis exposes the patient to the prospect of infertility and many years of medical treatment in order to avoid the development of diseases associated with this condition. However, sufficiently early diagnosis followed by the implementation of proper therapy improves the prognosis for enabling future pregnancies after IVF through the development of reproductive organs and prevention of health complications of hypoestrogenism such as cardiovascular problems and osteoporosis. This syndrome is very rare and affects 1 in 80,000 women. Due to the high risk of developing a gonadal tumour, prophylactic bilateral gonadectomy is one of the main procedures performed in a relatively brief time after diagnosis. Unfortunately, despite characteristic symptoms like primary amenorrhoea and underdeveloped breasts, the diagnosis is often made quite late. We report the case of a 45-year-old woman who had been diagnosed with Swyer syndrome at the age of 16 years. The patient underwent bilateral gonadectomy one year after the diagnosis due to the associated risk of developing malignancy and was treated since with hormone replacement therapy. At the age of 32 and 34 years, 2 successful IVF procedures were performed with oocyte donations. The pregnancies proceeded without any complications and both were resolved by caesarean section. The healthy sons' weights were 3600 g and 3700 g, respectively.
完全性XY性腺发育不全的诊断使患者面临不孕的前景以及多年的药物治疗,以避免与这种情况相关的疾病发展。然而,足够早的诊断并随后实施适当的治疗,通过生殖器官的发育和预防低雌激素血症的健康并发症(如心血管问题和骨质疏松症),可改善体外受精后未来怀孕的预后。这种综合征非常罕见,每80000名女性中就有1人受影响。由于发生性腺肿瘤的风险很高,预防性双侧性腺切除术是诊断后相对较短时间内进行的主要手术之一。不幸的是,尽管有原发性闭经和乳房发育不全等特征性症状,但诊断往往很晚。我们报告一例45岁女性,她在16岁时被诊断为斯维尔综合征。由于存在发生恶性肿瘤的相关风险,患者在诊断后一年接受了双侧性腺切除术,此后一直接受激素替代治疗。在32岁和34岁时,患者接受了2次成功的卵母细胞捐赠体外受精手术。妊娠过程没有任何并发症,均通过剖宫产结束。健康儿子的体重分别为3600克和3700克。