- Persistent Mullerian duct syndrome
Infobox_Disease
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DiseasesDB = 33868
ICD10 =
ICD9 =
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OMIM = 261550
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MeshID =Persistent Müllerian duct syndrome (PMDS), an
autosomal recessive [cite journal |pmid=8872466 |year=1996 |month=Sep |author=Imbeaud, S; Belville, C; Messika-Zeitoun, L; Rey, R; Di, Clemente, N; Josso, N; Picard, Jy |title=A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome |volume=5 |issue=9 |pages=1269–77 |issn=0964-6906 |journal=Human molecular genetics |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=8872466 |format=Free full text]congenital disorder , refers to the presence of auterus and sometimes otherMüllerian duct derivatives in a male.Typical features include undescended testes (
cryptorchidism ) and the presence of a small, underdeveloped uterus in a male infant or adult. This condition is usually caused by deficiency of fetalanti-Müllerian hormone (AMH) effect due tomutation s of thegene for AMH or theanti-Müllerian hormone receptor .Presentation
Because both the
Wolffian duct s andMüllerian duct s begin to develop, the tissues are often intertwined, resulting in obstruction or nonpatency of thevas deferens or other parts of the male excretory ducts. This can result ininfertility , the most serious potential problem caused by this condition.Cryptorchidism in AMH deficiency suggests that AMH may play a role in transabdominal testicular descent, perhaps by facilitating contraction of the
gubernaculum .Other Müllerian derivatives which may be present in at least a rudimentary form are the
cervix , upper part of thevagina , andfallopian tube s.The condition can come to attention because of a bulge in the
inguinal canal of a male infant due tohernia tion of the uterus. The presence of a uterus may be noticed if anultrasound or MRI of thepelvis is performed to locate the testes or for other reasons. Occasionally the uterus is discovered during abdominalsurgery for some other purpose in later childhood or adult life.Although persistent Müllerian duct syndrome is classified as an
intersex condition, it does not involve ambiguity or malformation of the externalgenitalia .Treatment
Surgery (
orchiopexy ) to retrieve the testes and position them in thescrotum is the primary treatment. Occasionally they are unsalvageable if located high in theretroperitoneum . During this surgery, the uterus is usually removed and attempts made to dissect away Müllerian tissue from thevas deferens andepididymis for the purpose of improving the chance of fertility.Testosterone replacement will be necessary atpuberty if the testes cannot be rescued.Molecular genetics and inheritance
PMDS type I results from
mutation s of the gene ("AMH") for AMH onchromosome 19p3.3. OMIM|600957]PMDS type II results from mutations of the gene ("AMH-RII") for the AMH receptor on 12q13. OMIM|600956]
Both types of disorders are inherited as
autosomal recessive conditions with expression limited to males (as females with AMH deficiency have no identified problems).References
ee also
*
Intersex
*Sexual differentiation
*Cryptorchidism
*Anti-müllerian hormone
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