Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
J Clin Endocrinol Metab
; 86(2): 921-3, 2001 Feb.
Article
em En
| MEDLINE
| ID: mdl-11158067
ABSTRACT
The 17 beta-hydroxysteroid dehydrogenase (HSD) type 3 isozyme catalyzes the conversion of androstenedione to testosterone in the testis. Deleterious mutations in the HSD17B3 gene cause undermasculinization in genetic males attributable to impaired testosterone biosynthesis. Hence, a hallmark of this autosomal recessive disorder is a decreased plasma testosterone-to-androstenedione ratio. Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported. Reconstitution experiments with recombinant protein reveal that substitution of tyrosine for cysteine at position 268 of 17 beta-HSD type 3 abrogates the enzymatic activity. This finding brings to 20 the number of mutations in the HSD17B3 gene that cause male undermasculinization.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
17-Hidroxiesteroide Desidrogenases
/
Hipogonadismo
Tipo de estudo:
Etiology_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA