Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.
Horm Res
; 70(2): 124-8, 2008.
Article
em En
| MEDLINE
| ID: mdl-18547961
ABSTRACT
BACKGROUND:
Persistentmullerian duct syndrome (PMDS) is characterized by the presence of uterus, fallopian tubes and the upper part of the vagina in 46,XY patients with perfectly virilized external genitalia. It is mostly caused by mutations of the AMH or AMH type 2 receptor (AMHR2) gene. The AMH serum level is very often low or undetectable in the AMH gene defect and normal in the AMHR2 gene defect.AIM:
We investigate an Italian patient, genotypically and phenotypically male, observed at 1 month of age for a right inguinal hernia that at surgery showed the presence of both testes in the same hernial sac and uterus and fallopian tubes in the abdomen.RESULTS:
Genetic tests first showed the absence of the common 27-bp deletion in the AMHR2 gene, then the presence of three new sequence variations in the AMH geneleading to the following variants the p.A405P carried by the paternal allele; the p.G326V plus the p.V508A carried by the maternal allele.CONCLUSIONS:
The determination of serum AMH, performed after the genetic analysis, showed a normal level for age, suggesting that these mutations may affect the function and the bioactivity of the hormone and not the secretion rate.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Hormônio Antimülleriano
/
Ductos Paramesonéfricos
Limite:
Child, preschool
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Horm Res
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Itália