Re: auto-salpingo-oophorectomy?

From: T-H Bui, Clinical Genetics, Karolinska Hospital (bui@gen.ks.se)
Mon Oct 2 10:58:54 1995


Dr Pastorek and others have discussed patients with a missing adnexa with possibly a genetic component involving other urogenital structures. They wondered whether this is a recognised entity.

Hereditary urogenital adysplasia also called hereditary renal adysplasia was so called, for the first time I think by Buchta et al in 1973, combining the term renal hypoplasia or aplasia. Although the condition has been described in both sexes, it is more severe in the male and often associated with other urogenital anomalies in the female including vaginal atresia (von Mayer-Rokitansky-Kuster syndrome) and lack of a fallopian tube. The evidence at this time is that it is inherited as an autosomal dominant trait with variable expression. Further refs can be obtained through OMIM (online Mendelian Inheritance in Man) or the MIM Book of Victor McKusick (MIM #191830) that every clinical/medical geneticist should have available.

Best wishes.

Date: 2 Oct 1995 15:53:18 -0400 From: "Joshua Copel" <Joshua.Copel@QuickMail.Yale.edu> Subject: AIUM online

Subject: Time: 3:56 PM OFFICE MEMO AIUM online Date: 10/2/95

For those of you interested in ultrasound, the American Institute of Ultrasound in Medicine now has a web page with lots of useful information at URL

http://www.well.com/user/aium/

Josh Copel Yale Ob-Gyn, MFM Joshua.Copel@Yale.edu





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