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

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
JournalMolecular and Cellular Endocrinology
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Germ Cells
Cells
Virilism
Testosterone
Neoplasms
Androstenedione
Biosynthesis
Female Genitalia
Disorders of Sex Development
Androgens
Puberty
Genes
Mutation
17-Hydroxysteroid Dehydrogenase Deficiency
3(17)-hydroxysteroid dehydrogenase
Therapeutics

Keywords

  • 17β-hydroxysteroid dehydrogenase type 3 deficiency
  • 46XY disorder of sex development
  • Mutations
  • Puberty
  • Testosterone
  • Virilization

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology

Cite this

Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency. / Folsom, Lisal J.; Hjaige, Mariam; Liu, Jiayan; Eugster, Erica; Auchus, Richard J.

In: Molecular and Cellular Endocrinology, 01.01.2018.

Research output: Contribution to journalArticle

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