Associated Papers
Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.
Almulhem B et al.
The American Journal of Case Reports, 2025
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Gonçalves CI et al.
International Journal of Molecular Sciences, 2022
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Copy Number Variations in Female Infertility in China.
Huang W et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.
Yang Z et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.
Ellaithi M et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Castro CC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
Alikasifoglu A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
Mains LM et al.
Fertility and Sterility, 2008
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.
Faienza MF et al.
Journal of Endocrinological Investigation, 2008
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.
Lee YS et al.
Clinical Endocrinology, 2007
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Bertelloni S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006
The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome.
Escobar-Morreale HF et al.
Endocrine Reviews, 2005
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Bertelloni S et al.
Minerva Pediatrica, 2003
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
Lindqvist A et al.
The Journal of Clinical Endocrinology and Metabolism, 2001