Shi Chengdong, Wang Yuxiong, Zeng Guoqiang, Cao Hongliang, Chen Mo, Wang Yuantao
Department of Urology, The First Hospital of Jilin University, Changchun, 130021, China.
Sex Med. 2024 May 22;12(2):qfae026. doi: 10.1093/sexmed/qfae026. eCollection 2024 Apr.
Ovotesticular disorder of sexual development (OT-DSD) is a rare sexual development disorder defined by the simultaneous existence of testicular and ovarian tissues (including follicular) in the same- or opposite-sex glands of an individual, with an incidence rate of about 1 in 100 000.
This report aims to supplement the clinical presentation, pathology, diagnosis, and treatment of OT-DSD and to improve the diagnostic ability of clinicians for modified disease.
This article is a retrospective analysis of a case of OT-DSD at our institution. Additionally, a comprehensive search of the PubMed database with the keywords "ovotesticular disorder of sexual development" or "true hermaphroditism" was conducted between 1956 and 2024, resulting in approximately 250 cases, and the results of the search are summarized.
The patient, a 44-year-old male, sought treatment at our hospital on February 6, 2023, primarily due to "intermittent hematospermia for over a month." He stated that it was discovered during infancy that his right scrotum was empty and lacking a testicle. Due to the low local medical services and the low-income family's economic conditions, he did not seek further diagnosis and treatment. After admission, the patient underwent computed tomography and magnetic resonance imaging and decided to undergo robot-assisted pelvic mass resection, which was pathologically confirmed as OT-DSD.
The patient's definitive diagnosis was provided by postoperative pathology, and although the patient ultimately had a favorable outcome, diagnosis and treatment were delayed due to his atypical clinical presentation.
This is a single case report; however, uncommon clinical presentations of rare diseases were identified, and a literature review was conducted. Unfortunately, there are some important missing data in the patient's medical history, including hormone assessment (testosterone, luteinizing hormone, follicle-stimulating hormone), tumor marker examination, semen analysis, scrotal ultrasound, and chromosomal analysis.
Patients with OT-DSD have diverse types of gonads, chromosomal karyotypes, and phenotypes of external genitalia, and further exploration and research are needed for early diagnosis and treatment. In addition, cases of OT-DSD with fertility and no ambiguous genitalia are even rarer. This case guides us for adult patients with no ambiguous genitalia: if there is an inability to palpate 1 or both gonads and there is intermittent hematospermia, the possibility of OT-DSD should be suspected.
卵睾性发育障碍（OT-DSD）是一种罕见的性发育障碍，定义为个体同一或异性性腺中同时存在睾丸和卵巢组织（包括卵泡），发病率约为十万分之一。
本报告旨在补充OT-DSD的临床表现、病理学、诊断和治疗，提高临床医生对该疾病的诊断能力。
本文是对我院1例OT-DSD病例的回顾性分析。此外，于1956年至2024年间在PubMed数据库中使用关键词“卵睾性发育障碍”或“真两性畸形”进行全面检索，共检索到约250例病例，并对检索结果进行了总结。
患者为44岁男性，于2023年2月6日因“间断血精1月余”来我院就诊。患者自述婴儿期发现右侧阴囊空虚，未触及睾丸。因当地医疗条件差及家庭经济条件差，未进一步诊治。入院后，患者接受了计算机断层扫描和磁共振成像检查，并决定接受机器人辅助盆腔肿物切除术，术后病理确诊为OT-DSD。
患者的最终诊断由术后病理提供，尽管患者最终预后良好，但因其临床表现不典型，诊断和治疗有所延迟。
这是一篇单病例报告；然而，识别出了罕见疾病的不常见临床表现，并进行了文献综述。遗憾的是，患者病史中存在一些重要的缺失数据，包括激素评估（睾酮、黄体生成素、卵泡刺激素）、肿瘤标志物检查、精液分析、阴囊超声和染色体分析。
OT-DSD患者的性腺类型、染色体核型和外生殖器表型多样，需要进一步探索研究以实现早期诊断和治疗。此外，具有生育能力且外生殖器无歧义的OT-DSD病例更为罕见。该病例为无外生殖器歧义的成年患者提供了指导：如果触诊不到一侧或双侧性腺且存在间断血精，应怀疑OT-DSD的可能性。
