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The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2020

Sipilä P, Junnila A, Hakkarainen J, Huhtaniemi R, Mairinoja L, Zhang F P, Strauss L, Ohlsson C, Kotaja N, Huhtaniemi I, Poutanen M

Abstract excerpt

Hydroxysteroid (17β) dehydrogenase type 3 (HSD17B3) deficiency causes a disorder of sex development in humans, where affected males are born with female-appearing external genitalia, but are virilized during puberty. The hormonal disturbances observed in the Hsd17b3 knockout mice (HSD17B3KO), generated in the present study, mimic those found in patients with HSD17B3 mutations. Identical to affected humans, serum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32190925
DOI: 10.1096/fj.201902384R

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