Fine Samantha, Ford Kenneth, Trotter Bradley, Le Hoang-Kim, Crisp Matthew, Santiago Jose, Birkemeier Krista
College of Medicine, Texas A&M Health Science Center, Temple, Texas.
Department of Radiology, Baylor Scott and White Medical Center, Temple, Texas.
Proc (Bayl Univ Med Cent). 2021 Jul 23;34(6):739-741. doi: 10.1080/08998280.2021.1951052. eCollection 2021.
Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. Also known as 45XO/46XY mosaicism, MGD is characterized by highly variable sexual phenotypes and an increased risk of gonadal malignancy. Patients with MGD often have a unilateral descended gonad and contralaterally either a streak gonad or no gonad. We present the case of a patient with a dysgenetic, nonpalpable gonad with imaging features of an ovotestis. These imaging features are generally more indicative of ovotesticular disorder of sexual development (previously true hermaphrodite), which is a condition with low risk of gonadal malignancy. Further evaluation with histology and genetic analysis confirmed the diagnosis of MGD. It is important to diagnose MGD to allow for early operative intervention and screening for malignancy.
混合性性腺发育不全（MGD）是一种罕见的性发育障碍。MGD也被称为45XO/46XY嵌合体，其特征是性表型高度可变且性腺恶性肿瘤风险增加。MGD患者通常有一侧睾丸已降入阴囊，而对侧则为条索状性腺或无性腺。我们报告了一例性腺发育异常、触诊不到且具有卵睾影像学特征的患者。这些影像学特征通常更提示性发育的卵睾障碍（以前称为真两性畸形），这是一种性腺恶性肿瘤风险较低的情况。通过组织学和基因分析进行的进一步评估证实了MGD的诊断。诊断MGD对于尽早进行手术干预和恶性肿瘤筛查很重要。
