Virilization and hyperandrogenism in Turner syndrome without Y mosaicism: a case report and review of the literature.

IF 1.8 4区 医学 Q3 OBSTETRICS & GYNECOLOGY
Jacquelyn R Evans, Jennifer M Ladd, Miriam R Conces, Scott E Hickey, Daniel C Koboldt, Y Frances Fei
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引用次数: 0

Abstract

Background: Up to 10-12% of individuals with Turner Syndrome (TS) have Y chromosome material (e.g. 45,X/46,XY), which can lead to virilization. We present the case of a patient with TS who developed virilization due to ovarian hilus cell (OHC) hyperplasia.

Clinical case: An 11-year-old with TS presented with clitoromegaly, hyperandrogenism, and primary ovarian insufficiency (POI). Thorough work up was unable to identify the source of hyperandrogenism. She underwent laparoscopic bilateral gonadectomy and was diagnosed with OHC hyperplasia on pathologic evaluation. Hyperandrogenism resolved post-operatively.

Conclusion: OHC hyperplasia is a rare, but important diagnosis to consider. Laparoscopic bilateral gonadectomy is both diagnostic and therapeutic and should be considered a first-line treatment for patients with POI and virilization in the absence of other diagnosed etiology.

特纳综合征无Y嵌合体的男性化和高雄激素症:1例报告和文献回顾。
背景:高达10-12%的特纳综合征(TS)患者具有Y染色体物质(例如45、X/46、XY),这可能导致男性化。我们提出的情况下,患者与TS谁发展男性化由于卵巢门细胞(OHC)增生。临床病例:一名11岁的TS患者,表现为阴蒂肿大、雄激素分泌过多和原发性卵巢功能不全(POI)。彻底的工作无法确定高雄激素症的来源。她接受了腹腔镜双侧性腺切除术,病理评估诊断为OHC增生。高雄激素症术后消退。结论:OHC增生是一种罕见但重要的诊断。腹腔镜双侧性腺切除术具有诊断和治疗的双重作用,在没有其他病因诊断的情况下,应考虑将其作为POI和男性化患者的一线治疗。
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来源期刊
CiteScore
3.90
自引率
11.10%
发文量
251
审稿时长
57 days
期刊介绍: Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology. The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.
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