Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
Int. braz. j. urol
;
45(5): 1064-1070, Sept.-Dec. 2019. tab, graf
Article
in English
| LILACS
| ID: biblio-1040062
ABSTRACT
ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Phenotype
/
Disorder of Sex Development, 46,XY
/
Homozygote
/
Mutation
Limits:
Adult
/
Humans
/
Male
Country/Region as subject:
South America
/
Colombia
Language:
English
Journal:
Int. braz. j. urol
Journal subject:
Urology
Year:
2019
Type:
Article
Affiliation country:
Colombia
Institution/Affiliation country:
Hospital Universitario San Ignacio/CO
/
Pontificia Universidad Javeriana/CO
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