Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency.

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.

Molecular and cellular endocrinology. 2018 Nov 30 [Epub ahead of print]

Lisal J Folsom, Mariam Hjaige, Jiayan Liu, Erica A Eugster, Richard J Auchus

Division of Endocrinology, Diabetes, and Metabolism University of Louisville, Louisville, KY, USA; Division of Pediatric Endocrinology, University of Louisville, Louisville, KY, USA. Electronic address: ., Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA., Section of Pediatric Endocrinology, Riley Hospital for Children, Indiana University, Indiana, IN, USA., Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA; Department of Pharmacology, University of Michigan, Ann Arbor, MI, USA.

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