Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
Arch Gynecol Obstet
; 269(4): 270-3, 2004 May.
Article
em En
| MEDLINE
| ID: mdl-15221321
INTRODUCTION: Müllerian agenesis, also named the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or vaginal aplasia, is the second most common cause of primary amenorrhea. It is characterized by the congenital absence of the Müllerian structures including the Fallopian tubes, the uterus, and the internal portion of the vagina in an otherwise normally feminized 46,XX subject. Most cases are sporadic in inheritance, but the occurrence of some patients with chromosomal translocations or even familial aggregates suggest a genetic basis for the disease, although the etiology of the disease is still unknown. It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect. METHODS: In this study we describe the molecular analysis of both the AMH and AMHR genes in a group of 15 patients with Müllerian agenesis. After sequencing all exons and exon/intron junctions of both genes, we were not able to detect any deleterious mutation. RESULTS: Five new polymorphisms, 2 of them in the AMHRII gene and 3 of them in the AMH gene, were identified. No significant differences between patients and controls were observed in the frequency of a given polymorphism. CONCLUSION: This work reinforces the view that molecular defects in the AMH or AMHR are unlikely sources for the MRKHS syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Ductos Paramesonéfricos
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
Arch Gynecol Obstet
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Alemanha