Trends in Endocrinology & Metabolism
Brief review17β-Hydroxysteroid dehydrogenase 3 deficiency
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Cited by (60)
Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population
2023, Journal of Steroid Biochemistry and Molecular BiologyCitation Excerpt :17β-HSD3 is predominantly expressed in the testes and uses NADPH as cofactor to catalyze the conversion of Δ4-androstene-3,17-dione (androstenedione) to testosterone, which is essential for the normal fetal development of male genitalia [2]. 17β-HSD3 deficiency is characterized by a spectrum of clinical phenotypes due to a complete loss or residual activity of mutant 17β-HSD3 enzyme in the testes [3,4]. The onset of the extra-testicular conversion of androstenedione to testosterone by 17β-HSD5 (also known as AKR1C3) is mainly responsible for the observed virilization during puberty of patients with 17β-HSD3 deficiency [4].
Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency
2019, Molecular and Cellular EndocrinologyCitation Excerpt :Thus, this disorder often does not become clinically apparent until the time of puberty, when affected patients present with either primary amenorrhea or sudden onset of virilization (Andersson et al., 1996a). This abrupt virilization is thought to be secondary to increased testicular androstenedione synthesis as a result of increased pituitary gonadotropin secretion with subsequent conversion to testosterone and DHT in peripheral tissues via extragonadal 17βHSD enzymatic activity (Boehmer et al., 1999; Andersson et al., 1996b; Andersson and Moghrabi, 1997). Unless transition to a male gender is desired, gonadectomy is necessary to prevent further virilization (Minto et al., 2005).
Lucky, times ten: A career in Texas science
2018, Journal of Biological Chemistry17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review
2017, Journal of Steroid Biochemistry and Molecular BiologyBiochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development
2016, Journal of Steroid Biochemistry and Molecular BiologyAssessment of steroidogenesis and steroidogenic enzyme functions
2013, Journal of Steroid Biochemistry and Molecular Biology