Associated Papers
Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.
Palui R et al.
Indian Journal of Pediatrics, 2025
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.
Ng HY et al.
Hgg Advances, 2025
[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E et al.
Endocrine Connections, 2023
Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
Zhu H et al.
The Journal of Steroid Biochemistry and Molecular Biology, 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
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
Ben Rhouma B et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
Hiort O et al.
Hormone Research in Paediatrics, 2017
Biochemical 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.
Engeli RT et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.
Grimbly C et al.
International Journal of Pediatric Endocrinology, 2016
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
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Bertelloni S et al.
Minerva Pediatrica, 2003
Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
Twesten W et al.
Hormone Research, 2000
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
Boehmer AL et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
17beta-hydroxysteroid dehydrogenases: physiological roles in health and disease.
Moghrabi N et al.
Trends in Endocrinology and Metabolism: Tem, 1998
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
Moghrabi N et al.
The Journal of Clinical Endocrinology and Metabolism, 1998