A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
J Sex Med
; 10(10): 2586-9, 2013 Oct.
Article
en En
| MEDLINE
| ID: mdl-22594312
ABSTRACT
INTRODUCTION:
17ß-hydroxysteroid dehydrogenase type 3 (HSD17B3) isoenzyme is present almost exclusively in the testes and converts delta 4 androstenedione to testosterone. Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46,XY Disorders of Sex Development (46,XY DSD).AIM:
This study aimed to present the clinical and biochemical features of a Tunisian patient who presented a sexual ambiguity orienting to HSD17B3 deficiency and to search for a mutation in the HSD17B3 gene by DNA sequencing.METHODS:
Polymerase chain reaction (PCR) amplification and subsequent sequencing of all the coding exons of HSD17B3 gene were performed on genomic DNA from the patient, her family, and 50 controls.RESULTS:
Genetic mutation analysis of the HSD17B3 gene revealed the presence of a novel homozygous nonsense mutation in the exon 9 (c.618 C>A) leading to the substitution p.C206X. The mutation p.C206X in the coding exons supports the hypothesis of HSD17B3 deficiency in our patient.CONCLUSION:
The patient described in this study represented a new case of a rare form of 46,XY DSD, associated to a novel gene mutation of HSD17B3 gene. The screening of this mutation is useful for confirming the diagnosis of HSD17B3 deficiency and for prenatal diagnosis.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Codón sin Sentido
/
Errores Congénitos del Metabolismo Esteroideo
/
Trastorno del Desarrollo Sexual 46,XY
/
Ginecomastia
/
17-Hidroxiesteroide Deshidrogenasas
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
J Sex Med
Asunto de la revista:
GINECOLOGIA
/
MEDICINA REPRODUTIVA
/
UROLOGIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Túnez