Dane Cem, Karaca Aysegul, Karaca Ender, Dane Banu
Department of Gynecology and Obstetrics, Haseki Training and Research Hospital, Istanbul, Turkey.
J Pediatr Adolesc Gynecol. 2013 Feb;26(1):19-21. doi: 10.1016/j.jpag.2011.12.066. Epub 2012 Feb 21.
46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue.
Here we report a case of a 17-year-old with clinical features of 46,XY complete gonadal dysgenesis including external female genitalia, hypoplastic uterus, hypergonadotrophic hypogonadism, incomplete secondary sex characterics, primary amenorrhea, and normal male karyotype. In addition, she had mild mental retardation, severe rotoscoliosis, pectus excavatus, spina bifida occulta, hip dislocation, and long, slender extremities. She had a rudimentary uterus and streak gonads; after giving her cyclic estrogen and progesterone pills, she was able to menstruate.
In this report, a Swyer syndrome case was discussed regarding clinical features, especially those are not characteristic for Swyer syndrome after a review of the literature.
46,XY，即斯维尔综合征，是一种完全性性腺发育不全。患者通常表现为原发性闭经，第二性征发育不全。这些患者的表型为女性。在本报告中，报道了一例具有被归类为结缔组织疾病的新临床特征的斯维尔综合征病例。该病例以及其他2例先前报道的伴有升主动脉瘤和膈疝的斯维尔综合征病例提示，Y染色体在结缔组织结构中具有重要作用。
我们在此报告一例17岁患者，具有46,XY完全性性腺发育不全的临床特征，包括女性外生殖器、子宫发育不全、高促性腺激素性性腺功能减退、不完全性第二性征、原发性闭经以及正常男性核型。此外，她有轻度智力发育迟缓、严重脊柱侧凸、漏斗胸、隐性脊柱裂、髋关节脱位以及四肢细长。她有一个发育不全的子宫和条索状性腺；给予她周期性雌激素和孕激素片后，她能够月经来潮。
在本报告中，在回顾文献后讨论了一例斯维尔综合征病例的临床特征，尤其是那些非斯维尔综合征典型特征的表现。
