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Persistence of müllerian derivatives in males

Persistence of müllerian derivatives in males The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives—uterus and fallopian tubes—in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti‐müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely low in the great majority of patients, even before puberty, when AMH levels are normally high. Single‐strand conformation polymorphism (SSCP)–polymerase chain reaction (PCR) was a very effective screening method. In 39% of families, characterized by an AMH level normal for the age of the patient, a mutation of the type II receptor of AMH was detected by automatic sequencing, because SSCP‐PCR was not very effective. Forty‐eight percent of the mutations were homozygous. A 27‐base‐pair deletion in exon 10 was noted in 45% of the families. When this very common mutation is not taken into account, the proportion of recurrent mutations is 42% for the AMH gene and 33% for the AMH receptor type II gene. In 16% of families, no mutation of either the AMH or the AMH receptor gene was detectable; this group may correspond to mutations of unknown genes involved in AMH processing or in downstream AMH transduction. Am. J. Med. Genet. (Semin. Med. Genet.) 89:218–223, 1999. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Persistence of müllerian derivatives in males

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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(19991229)89:4<218::AID-AJMG6>3.3.CO;2-5
Publisher site
See Article on Publisher Site

Abstract

The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives—uterus and fallopian tubes—in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti‐müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely low in the great majority of patients, even before puberty, when AMH levels are normally high. Single‐strand conformation polymorphism (SSCP)–polymerase chain reaction (PCR) was a very effective screening method. In 39% of families, characterized by an AMH level normal for the age of the patient, a mutation of the type II receptor of AMH was detected by automatic sequencing, because SSCP‐PCR was not very effective. Forty‐eight percent of the mutations were homozygous. A 27‐base‐pair deletion in exon 10 was noted in 45% of the families. When this very common mutation is not taken into account, the proportion of recurrent mutations is 42% for the AMH gene and 33% for the AMH receptor type II gene. In 16% of families, no mutation of either the AMH or the AMH receptor gene was detectable; this group may correspond to mutations of unknown genes involved in AMH processing or in downstream AMH transduction. Am. J. Med. Genet. (Semin. Med. Genet.) 89:218–223, 1999. © 2000 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics – Wiley

Published: Dec 29, 1999

Keywords: anti‐müllerian hormone; müllerian inhibiting substance; mutations; persistent müllerian duct syndrome; intersex

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