• PMID: 18547961
• Gene Name: AMH
• Condition: Male infertility
• Association: 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.
• PMID: 18547961
• Gene Name: AMH
• Condition: Persistent mullerian duct syndrome
• Association: 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.
• Mutation: 27-bp deletion in the AMHR2 gene, p.A405P, p.G326V, p.V508A
• Population size: 1
• Population details: 1 Persistentmullerian duct syndrome (PMDS)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AMH, AMHR2
• Other associated phenotypes: Persistent mullerian duct syndrome

Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage

Menabò S, Balsamo A, Nicoletti A, Gennari M, Pirazzoli P, Cicognani A, Baldazzi L.

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. CI - Copyright 2008 S. Karger AG, Basel. FAU - Menabò, Soara AU - Menabò S AD - Department of Pediatrics, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy. FAU - Balsamo, Antonio AU - Balsamo A FAU - Nicoletti, Annalisa AU - Nicoletti A FAU - Gennari, Monia AU - Gennari M FAU - Pirazzoli, Piero AU - Pirazzoli P FAU - Cicognani, Alessandro AU - Cicognani A