Division of Endocrinology, Diabetes, and Metabolism University of Louisville, Louisville, KY, USA; Division of Pediatric Endocrinology, University of Louisville, Louisville, KY, USA.
Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Mol Cell Endocrinol. 2019 Jun 1;489:3-8. doi: 10.1016/j.mce.2018.11.014. Epub 2018 Nov 30.
17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is an autosomal recessive disorder of male sex development that results in defective testosterone biosynthesis. Although mutations in the cognate HSD17B3 gene cause a spectrum of phenotypic manifestations, the majority of affected patients are genetic males having female external genitalia. Many cases do not present until puberty, at which time peripheral conversion of androgen precursors causes progressive virilization. Measurement of the testosterone-to-androstenedione ratio is useful to screen for 17βHSD3 deficiency, and genetic analysis can confirm the diagnosis. As some individuals with 17βHSD3 deficiency transition from a female sex assignment to identifying as males, providers should ensure stable gender identity prior to recommending irreversible treatments. Gonadectomy is indicated to prevent further virilization if a female gender identity is established. The risk of testicular neoplasia is unknown, a point which should be discussed if patients elect to transition into a male gender role.
17β-羟类固醇脱氢酶 3 型（17βHSD3）缺陷是一种常染色体隐性遗传性男性性别发育障碍，导致睾酮生物合成缺陷。尽管 HSD17B3 基因的突变导致一系列表型表现，但大多数受影响的患者为具有女性外生殖器的遗传男性。许多病例直到青春期才出现，此时雄激素前体的外周转化会导致进行性男性化。睾酮-雄烯二酮比值的测量可用于筛查 17βHSD3 缺陷，基因分析可确诊。由于一些 17βHSD3 缺陷患者从女性性别分配转变为男性认同，因此在推荐不可逆治疗之前，提供者应确保稳定的性别认同。如果建立了女性性别认同，则需要进行性腺切除术以防止进一步的男性化。如果患者选择过渡到男性性别角色，则应讨论睾丸肿瘤的风险。
