Associated Papers
Unmasking a rare variant: 17β-HSD3 deficiency in a male infant with disorders of sex development.
Ali K et al.
Bmj Case Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
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
17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
Krishnappa B et al.
Clinical Endocrinology, 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
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
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
Phelan N et al.
European Journal of Endocrinology, 2015
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
46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.
Inacio M et al.
Advances in Experimental Medicine and Biology, 2011
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
Bertelloni S et al.
Journal of Endocrinological Investigation, 2009
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
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
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Bertelloni S et al.
Minerva Pediatrica, 2003
17beta-hydroxysteroid dehydrogenases: physiological roles in health and disease.
Moghrabi N et al.
Trends in Endocrinology and Metabolism: Tem, 1998