Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Institute of Women's Life Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
Department of Urology and Urological Science Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
J Pediatr Adolesc Gynecol. 2021 Oct;34(5):626-630. doi: 10.1016/j.jpag.2021.02.105. Epub 2021 Mar 2.
To present clinical features that characterize ovotesticular disorder of sex development (OT-DSD) in the Korean population. Among the patient cohort who were initially suspected to have OT-DSD, the actual OT-DSD patients and those of other disorder of sex development were compared.
Retrospective medical chart review of patients who were initially suspected to have OT-DSD from 1984 to 2018 on the basis of clinical examination.
Tertiary care university hospital.
Of 26 patients with initial diagnosis of OT-DSD, 3 were excluded because of incomplete records, and finally, 23 patients were subjected to analysis. Various examinations were performed before the surgical confirmation of gonad histopathology.
Medical records were reviewed for clinical, anatomical, biochemical, and cytogenic characteristics, gender assignment, medical treatment, and histopathologic diagnosis.
Characteristics of OT-DSD in a Korean population.
Among 23 patients suspected to have OT-DSD, 13/23 (56.5%) were diagnosed as OT-DSD after histopathologic confirmation. Of the remaining 10 patients, 5/23 (21.7%) were diagnosed with mixed gonadal dysgenesis, 3 with Turner variant, 1 with 46,XX disorder of sex development, and 1 with Mayer-Rokitansky-Küster-Hauser syndrome. Among the 13 OT-DSD cases, 9 patients presented with the 46,XX karyotype, 1 with the 46,XY, and 3 with the 46,XX/XY karyotype. Nine patients were assigned as male and 4 as female at birth. The most common gonad histology was ovotestis 10/26 (38%), followed by ovary and testis.
OT-DSD is one of the rarest disorders with various clinical presentations. A patient with ambiguous genitalia must be examined with a multidisciplinary approach with clinical suspicion for OT-DSD. Standardized procedure of evaluation and treatment is crucial.
介绍韩国人群中卵睾性性发育障碍（OT-DSD）的临床特征。在最初疑似 OT-DSD 的患者队列中，比较了实际的 OT-DSD 患者和其他性发育障碍患者。
对 1984 年至 2018 年期间基于临床检查初步诊断为 OT-DSD 的患者进行回顾性病历审查。
三级保健大学医院。
26 例初步诊断为 OT-DSD 的患者中，有 3 例因记录不完整而被排除，最终有 23 例患者进行了分析。在手术确认性腺组织病理学之前，进行了各种检查。
回顾性分析了临床、解剖、生化和细胞遗传学特征、性别分配、药物治疗和组织病理学诊断的病历。
韩国人群中 OT-DSD 的特征。
在 23 例疑似 OT-DSD 的患者中，有 13/23（56.5%）例在组织病理学确认后被诊断为 OT-DSD。其余 10 例患者中，5/23（21.7%）例被诊断为混合性性腺发育不良，3 例为 Turner 变异型，1 例为 46，XX 性发育障碍，1 例为 Mayer-Rokitansky-Küster-Hauser 综合征。在 13 例 OT-DSD 病例中，9 例患者的核型为 46，XX，1 例为 46，XY，3 例为 46，XX/XY。9 例患者出生时被分配为男性，4 例为女性。最常见的性腺组织学表现为 10/26（38%）例卵睾，其次为卵巢和睾丸。
OT-DSD 是一种罕见的疾病，临床表现多种多样。对于具有模糊性生殖器的患者，必须通过多学科方法进行检查，并对 OT-DSD 进行临床怀疑。评估和治疗的标准化程序至关重要。
