PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■性发育性睾丸障碍（OT-DSD）是一种罕见的性发育障碍，其定义为睾丸和卵巢组织（包括卵泡）同时存在于同一或异性腺体中。发病率约为1/100000。
■本报告旨在补充临床表现，病理学,诊断,以及OT-DSD的治疗，提高临床医生对改良疾病的诊断能力。
■本文是对我们机构的OT-DSD病例的回顾性分析。此外,在1956年至2024年之间，对PubMed数据库进行了全面搜索，关键字为“性发育的卵睾丸障碍”或“真正的雌雄同体”，导致大约250例病例，并对搜索结果进行了总结。
■病人,一名44岁的男性,2023年2月6日在我们医院寻求治疗，主要原因是间歇性血精症超过一个月。“他说，在婴儿期发现他的右阴囊是空的，没有睾丸。由于当地医疗服务水平低和低收入家庭的经济条件,他没有寻求进一步的诊断和治疗。入院后,患者接受了计算机断层扫描和磁共振成像，并决定接受机器人辅助的盆腔肿块切除术，经病理证实为OT-DSD。
■患者的明确诊断是由术后病理提供的，尽管患者最终获得了良好的结果，由于其不典型的临床表现,延误了诊断和治疗.
■这是单例报告；然而，发现罕见疾病的罕见临床表现，并进行了文献综述。不幸的是,在患者的病史中有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患者有不同类型的性腺，染色体核型,外生殖器的表型，早期诊断和治疗需要进一步的探索和研究。此外,有生育能力和没有模糊生殖器的OT-DSD病例甚至更罕见。这个案例指导我们对于没有模糊生殖器的成年患者：如果无法触诊1或两个性腺并且有间歇性血精症，应该怀疑OT-DSD的可能性。
■本报告旨在补充临床表现，病理学,诊断,以及OT-DSD的治疗，提高临床医生对改良疾病的诊断能力。
■本文是对我们机构的OT-DSD病例的回顾性分析。此外,在1956年至2024年之间，对PubMed数据库进行了全面搜索，关键字为“性发育的卵睾丸障碍”或“真正的雌雄同体”，导致大约250例病例，并对搜索结果进行了总结。
■病人,一名44岁的男性,2023年2月6日在我们医院寻求治疗，主要原因是间歇性血精症超过一个月。“他说，在婴儿期发现他的右阴囊是空的，没有睾丸。由于当地医疗服务水平低和低收入家庭的经济条件,他没有寻求进一步的诊断和治疗。入院后,患者接受了计算机断层扫描和磁共振成像，并决定接受机器人辅助的盆腔肿块切除术，经病理证实为OT-DSD。
■患者的明确诊断是由术后病理提供的，尽管患者最终获得了良好的结果，由于其不典型的临床表现,延误了诊断和治疗.
■这是单例报告；然而，发现罕见疾病的罕见临床表现，并进行了文献综述。不幸的是,在患者的病史中有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患者有不同类型的性腺，染色体核型,外生殖器的表型，早期诊断和治疗需要进一步的探索和研究。此外,有生育能力和没有模糊生殖器的OT-DSD病例甚至更罕见。这个案例指导我们对于没有模糊生殖器的成年患者：如果无法触诊1或两个性腺并且有间歇性血精症，应该怀疑OT-DSD的可能性。
