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...

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Bibliographic Details
Published in:Molecular and cellular endocrinology 2019-06, Vol.489, p.3-8
Main Authors: Folsom, Lisal J., Hjaige, Mariam, Liu, Jiayan, Eugster, Erica A., Auchus, Richard J.
Format: Article
Language:English
Subjects:
17-Hydroxysteroid Dehydrogenases - deficiency
17-Hydroxysteroid Dehydrogenases - metabolism
17β-hydroxysteroid dehydrogenase type 3 deficiency
46XY disorder of sex development
biosynthesis
Dihydrotestosterone - metabolism
enzymes
female genitalia
females
genes
genetic analysis
germ cells
gonadectomy
Humans
males
masculinization
mutation
Mutation - genetics
Mutations
neoplasms
Neoplasms, Germ Cell and Embryonal - enzymology
Neoplasms, Germ Cell and Embryonal - genetics
Neoplasms, Germ Cell and Embryonal - pathology
Neoplasms, Germ Cell and Embryonal - physiopathology
patients
phenotype
Puberty
risk
testes
Testosterone
Virilization
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Summary: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. •The etiologies of 46,XY DSD with masculinization at puberty is limited.•A T/A ratio
ISSN:0303-7207
1872-8057
DOI:10.1016/j.mce.2018.11.014