Clinical, endocrine, and molecular findings in 17β-hydroxysteroid dehydrogenase type 3 deficiency
MF Faienza, L Giordani, M Delvecchio… - Journal of …, 2008 - Springer
Abstract The 17β-hydroxysteroid dehydrogenases (17βHSD) gene family comprises
different enzymes involved in the biosynthesis of active steroid hormones. The 17βHSD type …
different enzymes involved in the biosynthesis of active steroid hormones. The 17βHSD type …
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect
BB Rhouma, F Kallabi, N Mahfoudh… - The Journal of steroid …, 2017 - Elsevier
Abstract 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost
exclusively in the testis and converts Δ4-androstene-3, 17-dione to testosterone. Mutations …
exclusively in the testis and converts Δ4-androstene-3, 17-dione to testosterone. Mutations …
Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD17B3)
abstract Isozymes of 17β-hydroxysteroid dehydrogenase (17βHSD) regulate levels of
bioactive androgens and estrogens in a variety of tissues. For example, the 17βHSD type 3 …
bioactive androgens and estrogens in a variety of tissues. For example, the 17βHSD type 3 …
Diagnosis of 17β-hydroxysteroid dehydrogenase deficiency
S Bertelloni, E Dati, O Hiort - Expert Review of Endocrinology & …, 2009 - Taylor & Francis
17β-hydroxysteroid dehydrogenase deficiency is a rare autosomal recessive inherited
disorder of sex development, affecting only 46, XY individuals. It is due to mutations in the …
disorder of sex development, affecting only 46, XY individuals. It is due to mutations in the …
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
A Khattab, T Yuen, M Yau, S Domenice… - Journal of Pediatric …, 2015 - degruyter.com
Steroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal
recessive disorder that usually presents in patients with a 46, XY karyotype with ambiguous …
recessive disorder that usually presents in patients with a 46, XY karyotype with ambiguous …
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations …
CI Gonçalves, J Carriço, M Bastos… - International Journal of …, 2022 - mdpi.com
The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts
androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or …
androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or …
17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene
A Alikasifoglu, O Hiort, N Gonc… - Journal of Pediatric …, 2012 - degruyter.com
β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) converts Δ4 androstenedione (A) to
testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is …
testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is …
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up
MF Faienza, F Baldinotti, G Marrocco… - Journal of …, 2020 - Springer
Background Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is a rare
autosomal recessive 46, XY disorder of sex development (DSD). It is due to pathogenetic …
autosomal recessive 46, XY disorder of sex development (DSD). It is due to pathogenetic …
46, XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
BB Mendonca, NL Gomes, EMF Costa, M Inacio… - The Journal of steroid …, 2017 - Elsevier
Abstract 17β-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last
phase of steroidogenesis, in which androstenedione is converted into testosterone and …
phase of steroidogenesis, in which androstenedione is converted into testosterone and …
A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty
Deficiency of 17β-hydroxysteroid dehydrogenase type3 (17β-HSD3) isoenzyme which
catalyzes the synthesis of testosterone from Δ4-androstenedione, is the cause of 46, XY …
catalyzes the synthesis of testosterone from Δ4-androstenedione, is the cause of 46, XY …