A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome.
Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.
Department of Pediatric Endocrinology, Sophia Children's Hospital, Rotterdam, The Netherlands.
Y G
YG
van der Zwan
H T
HT
Brüggenwirth
S L S
SL
Drop
K P
KP
Wolffenbuttel
G C
GC
Madern
L H J
LH
Looijenga
J A
JA
Visser
D000595:Amino Acid Sequence; D054304:Anti-Mullerian Hormone / Q000097:blood / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D058490:Disorder of Sex Development, 46,XY / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007265:Inhibins / Q000097:blood; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013093:Spermatogonia / Q000473:pathology; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000097:blood
C422364:inhibin B; D013739:Testosterone; D007265:Inhibins; D054304:Anti-Mullerian Hormone