Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M Jetha, Elizabeth T Rosolowsky
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引用次数: 6
摘要
背景:17β-羟基类固醇脱氢酶3型(17βHSD3)缺乏是一种罕见的性发育障碍(DSD)的原因，由于雄烯二酮向睾酮的转化受损。传统上，诊断是通过β hcg刺激睾丸激素:雄烯二酮的比率来确定的病例表现:另一种表型的女性婴儿表现为双侧腹股沟肿块，核型为46,xy。βHCG刺激(1500 IU IM, 2天)提示17βHSD3缺乏，尽管雄烯二酮仅轻度刺激(4.5 ~ 5.4 nmol/L)。便捷的HSD17B3基因基因检测提供了明确的诊断。结论:我们提倡对罕见原因的DSD进行紧急基因检测，因为不确定的激素结果会延误诊断和延长干预时间。
46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.
Background: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8.
Case presentation: An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis.
Conclusion: We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.
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