关键词: Adolescent Disorders of Sex Development (DSD) Histology Karyotype Ovotestis

Mesh : Adolescent Female Humans Male Karyotype Ovary / pathology Ovotesticular Disorders of Sex Development / complications diagnosis genetics

来  源:   DOI:10.1186/s12905-023-02698-1   PDF(Pubmed)

Abstract:
Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature.
A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development.
Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.
摘要:
背景:Ovotestis是性歧义的一种罕见原因,其特征是患者存在睾丸和卵巢组织,导致男性和女性结构的发展。我们报告了一例在青少年中诊断出的卵睾丸,对文献进行了回顾。
方法:一名15岁患者出现右侧阴囊肿胀并伴有男性乳房发育症。组织学显示卵巢基质与卵泡和生精小管并列。核型显示男性受试者(XY)。因此,我们保留了性发育的睾丸疾病的诊断。
结论:Ovotestis是一个罕见的发现,其遗传病因和临床表现具有异质性。虽然许多患者在婴儿期或儿童期被诊断,我们介绍了一个诊断为15岁青少年的病例。
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