17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Because of a low T/Δ4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17βHSD-3 deficiency was made which was confirmed after genetic analysis of the HSD17B3 gene of the patient.
|
28739554 |
2018 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive form of 46, XY Disorders of Sex Development (46, XY DSD).
|
26956191 |
2017 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
These novel mutations may expand the mutation database of HSD17B3 gene and provide us new insights into the molecular mechanism of 17β-HSD3 deficiency.
|
28774765 |
2017 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
This study aimed at the detection of HSD17B3 gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations.
|
27073926 |
2016 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
26545797 |
2016 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing of the HSD17B3 gene confirmed 17β-HSD3 deficiency in both patients.
|
25536660 |
2015 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with a novel mutation in HSD17B3 gene leading to 17β-HSD3 deficiency.
|
25064799 |
2015 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
|
24025597 |
2013 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
|
23295294 |
2012 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The novel large duplication spanning exons 3-10 of the HSD17B3 gene that we report here in compound heterozygosity with the known p.R80Q leads to 17β-HSD-3 deficiency presenting as 46,XY Disorder of Sex Development.
|
22445608 |
2012 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
|
22212252 |
2011 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
|
21214500 |
2011 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
|
19498320 |
2009 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
|
17509588 |
2008 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD17B3 gene are associated with a rare form of 46,XY disorder of sex development referred to as 17betaHSD3 deficiency (or as 17-ketosteroid reductase deficiency), due to impaired testicular conversion of Delta4-A into T. 46,XY patients with 17betaHSD3 deficiency are usually classified as female at birth, raised as such, but develop secondary male features at puberty.
|
18296911 |
2008 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
BEFREE |
Due to an increased basal serum ratio of androstenedione/testosterone, 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD 3) deficiency was initially suspected.
|
15745934 |
2005 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported.
|
11158067 |
2001 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
|
10599740 |
1999 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
|
9758445 |
1998 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
|
9758445 |
1998 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
|
9709959 |
1998 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
8550739 |
1996 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
8550739 |
1996 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
|
8075637 |
1994 |