Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
Horm Res Paediatr
; 75(1): 70-7, 2011.
Article
en En
| MEDLINE
| ID: mdl-20861607
BACKGROUND: Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described. METHODS: clinical and mutational analysis of the SF-1 gene in 9 subjects of two families. RESULTS: family 1 had 2 affected 46,XY DSD subjects. One, born with severe perineal hypospadias, was raised as a male, and presented normal adolescence. The other, born with ambiguous genitalia, uterus, and mild testicular dysgenesis, was raised as a female. A W279X heterozygous mutation and an intronic deletion (g3314-3317delTCTC (IVS 4 + 8) was found in the SF-1 gene. In family 2, 4/6 affected siblings had 46,XY DSD or hypospadias. An affected 46,XX sister had normal sexual development but increased FSH levels. The 37-year-old affected mother had entered menopause. An Y183X heterozygous mutation was detected. CONCLUSION: an extreme within-family phenotypic variability, ranging from severe prenatal undervirilization to normal pubertal development, was observed in 46,XY-affected siblings, indicating that other unknown factors might be involved in the phenotype. Low ovarian reserve and preserved fertility in 46,XX subjects can be observed in heterozygous SF-1 gene mutations.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
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Insuficiencia Ovárica Primaria
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Factor Esteroidogénico 1
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Trastornos del Desarrollo Sexual 46, XX
/
Trastorno del Desarrollo Sexual 46,XY
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
Idioma:
En
Revista:
Horm Res Paediatr
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Argentina
Pais de publicación:
Suiza