Pathak Swasti, Raj Gaurav, Pratap Rishabh, Singh Shivam
Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Radiol Case Rep. 2023 Jul 12;18(9):3295-3298. doi: 10.1016/j.radcr.2023.06.061. eCollection 2023 Sep.
Swyer syndrome-a rare syndrome associated with complete gonadal dysgenesis-is seen in phenotypically female patients with 46-XY karyotype. They usually present with primary amenorrhea or delayed puberty. The dysgenetic gonad, which is nonfunctional, is prone to undergo malignant transformation such as dysgerminoma, gonadoblastoma, etc. Timely diagnosis helps in deciding appropriate management strategies for the patient such as hormone replacement therapy and gonadectomy. Thirty-year-old patient with a female external phenotype presented to us with complaints of primary amenorrhea. There was no similar family history of infertility, amenorrhea, abnormal external genitalia development, or cryptorchidism. On physical examination, the breast development of the patient was within normal limits for her age (Tanner stage 5), however; the axillary and pubic hair were underdeveloped (Tanner stage 2). Pelvic and inguinal ultrasound of the patient showed a hypoplastic uterus along with a cystic structure in left pelvis with no evidence of any testes like structure in inguinal region, pelvis, or abdomen. The patient was further evaluated with MRI of pelvis which confirmed the ultrasound findings of a hypoplastic uterus along with a dysplastic cystic left gonad with no evidence of any ovary or ovary-like structure/testes/testes-like structure in abdomen. Possibility of complete gonadal dysgenesis was given which was further confirmed by the hormonal assay that showed hypergonadotropic-hypogonadism with raised serum follicular stimulating hormone (FSH) and serum luteinizing hormone (LH) levels and a low estradiol, low testosterone, and low anti-Mullerian hormone (AMH) levels. Serum prolactin (PRL), serum thyroid stimulating hormone (TSH), and serum beta human chorionic gonadotropin (beta hCG) levels were within normal range. The cytogenetic report of the patient showed a 46-XY karyotype confirming our diagnosis. The patient was advised to undergo prophylactic gonadectomy for the left gonad. Swyer syndrome is a rare disorder of sexual development which needs vigorous clinical, laboratory, and radiological evaluation. Ultrasound is the primary investigation of choice whereas MRI is used as a problem-solving tool in localizing the streak gonads. Early diagnosis is crucial in these patients since prophylactic gonadectomy reduces the risk of developing germ cell tumor.
斯维尔综合征——一种与完全性性腺发育不全相关的罕见综合征——见于表型为女性但核型为46,XY的患者。她们通常表现为原发性闭经或青春期延迟。发育不全的性腺无功能，易于发生恶性转化，如无性细胞瘤、性腺母细胞瘤等。及时诊断有助于为患者确定合适的治疗策略，如激素替代疗法和性腺切除术。一名30岁、具有女性外表型的患者因原发性闭经前来就诊。家族中无类似的不孕、闭经、外生殖器发育异常或隐睾病史。体格检查时，患者的乳房发育与其年龄相符（坦纳5期），然而；腋窝和阴毛发育不良（坦纳2期）。患者的盆腔和腹股沟超声显示子宫发育不全，左侧盆腔有一个囊性结构，腹股沟区、盆腔或腹部未发现任何睾丸样结构。对患者进行了盆腔MRI进一步评估，结果证实了超声检查结果，即子宫发育不全，左侧性腺发育异常呈囊性，腹部未发现任何卵巢或卵巢样结构/睾丸/睾丸样结构。考虑了完全性性腺发育不全的可能性，激素检测进一步证实了这一点，检测显示为高促性腺激素性性腺功能减退，血清卵泡刺激素（FSH）和血清黄体生成素（LH）水平升高，雌二醇、睾酮和抗苗勒管激素（AMH）水平降低。血清催乳素（PRL）、血清促甲状腺激素（TSH）和血清β人绒毛膜促性腺激素（β-hCG）水平在正常范围内。患者的细胞遗传学报告显示核型为46,XY，证实了我们的诊断。建议患者对左侧性腺进行预防性性腺切除术。斯维尔综合征是一种罕见的性发育障碍，需要进行全面的临床、实验室和影像学评估。超声是首选初步检查，而MRI用作定位条索状性腺的问题解决工具。对这些患者而言，早期诊断至关重要，因为预防性性腺切除术可降低发生生殖细胞肿瘤的风险。
