Çatlı Gönül, Alparslan Caner, Can P Şule, Akbay Sinem, Kelekçi Sefa, Atik Tahir, Özyılmaz Berk, Dündar Bumin N
Tepecik Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey Phone: +90 232 469 69 69-3817 E-mail:
J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):159-62. doi: 10.4274/jcrpe.1919.
46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.
46,XY单纯性腺发育不全（斯维尔综合征）的特征是出生时生殖器为正常女性外观。通常在青春期首次表现出来，伴有青春期延迟和闭经。极少数情况下，患者可能会出现自发性乳房发育和/或月经。一名15岁女孩因原发性闭经前来我院就诊。体格检查发现其外生殖器完全为女性特征。乳房发育和阴毛情况与坦纳五期相符。激素评估显示，尽管雌激素水平正常，但处于高促性腺激素状态。染色体分析显示核型为46,XY。盆腔超声检查显示性腺较小，子宫大小与年龄相符。通过多重聚合酶链反应证实了SRY基因的表达。对基因组DNA进行直接测序未发现SRY、SF1和WT1基因存在突变。诊断为斯维尔综合征后，该患者开始出现自发性月经周期，因此未参加后续随访。9个月后，患者接受了诊断性腹腔镜检查。对性腺组织进行的多次活检冰冻检查显示为性腺母细胞瘤。通过本报告，我们强调在所有原发性或继发性闭经病例中，即使存在正常乳房发育，进行核型分析（对斯维尔综合征具有诊断意义）的重要性。我们还提出，斯维尔综合征患者的正常青春期发育可能与存在具有激素活性的肿瘤有关。
