Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant
Sign Up to like & getrecommendations! Published in 2021 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2021.1908253
Abstract: Abstract Introduction Persistent müllerian duct syndrome (PMDS) is a rare form of 46, XY disorder of sex development characterized by the persistence of the müllerian structures (uterus, fallopian tubes, the upper part of the vagina)… read more here.
Keywords: persistent llerian; llerian duct; duct syndrome; one novel ... See more keywords
Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.
Sign Up to like & getrecommendations! Published in 2020 at "Human reproduction"
DOI: 10.1093/humrep/deaa014
Abstract: The persistent Müllerian duct syndrome (PMDS) is defined by the persistence of Müllerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-Müllerian hormone (AMH) or AMH… read more here.
Keywords: persistent llerian; anti llerian; llerian hormone; llerian duct ... See more keywords
Persistent Müllerian duct syndrome: A novel mutation in the Anti-Müllerian Hormone gene
Sign Up to like & getrecommendations! Published in 2017 at "Hormones"
DOI: 10.14310/horm.2002.1735
Abstract: BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life.… read more here.
Keywords: persistent llerian; duct; llerian duct; gene ... See more keywords
Persistent Mü̈llerian duct syndrome in a beluga whale Delphinapterus leucas.
Sign Up to like & getrecommendations! Published in 2019 at "Diseases of aquatic organisms"
DOI: 10.3354/dao03418
Abstract: This case study describes a persistent Mü̈llerian duct syndrome (PMDS), a rare form of XY disorder of sex development (DSD), in a mature (>15 yr) beluga whale Delphinapterus leucas. The phenotypically and genetically male beluga… read more here.
Keywords: persistent llerian; beluga whale; llerian duct; duct syndrome ... See more keywords
Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13010159
Abstract: Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (AMH) and AMH… read more here.
Keywords: persistent llerian; amh amhr2; llerian duct; duct syndrome ... See more keywords