OMIM - The Peyronie Discussion

OMIM, the "online mendelian inheritance in man" NIH database, published out of Johns Hopkins, is a formidable reference source. The discussion of "Peyronie Disease", however, is a bit eccentric. For example: "An anonymous nongeneticist suggested to me in 1980 that Peyronie disease is 'sex-linked with reduced penetrance.'" Cough. That doesn't show up in most of the OMIM posts, I get a feeling this one is under-edited.

Even so, I've excerpted and bolded some sections.

OMIM - PEYRONIE DISEASE

... Bias et al. (1982) concluded that this phenotype is a male-limited, autosomal dominant trait. They traced Peyronie disease through several families. Dupuytren contracture was often present in both males and females. In 1 kindred, males in 3 successive generations had Peyronie disease and Dupuytren contractures, and the latter was present in a fourth generation. Close linkage with HLA (see 142800) was excluded. Chromosomal abnormalities were described by Somers et al. (1987) and by Guerneri et al. (1991).

In Rome, Carrieri et al. (1998) performed a case-control study of 134 men with Peyronie disease and 134 male controls. Men who had undergone invasive procedures on the penis (e.g., urethral catheterization, cystoscopy, and transurethral prostatectomy) had a 16-fold increased risk of Peyronie disease, while a nearly 3-fold increase was observed among men who had genital and/or perineal trauma. ...

... Dupuytren contracture was found in 21% of cases and none of the controls, and 4% of the cases and none of the controls reported familial history for Peyronie disease.

Note that the key research on the genetics of Peyronie's was done twenty-five years ago, and yet it's omitted from most discussions of the disorder (I'll be adding it to Wikipedia.) I was very surprised by the 16-fold increase with urethral catheterization.

If I were a urologist, I would routinely ask prior to any urologic procedure whether the patient had any relatives with Dupuytren's contracture. If they did, I'd reconsider the need for the procedure. A 16-fold increase is enormous.

It's most likely that Peyronie's Disease is a pathologic reaction to common micro-trauma of the penile vasculature. Men who don't carry* the gene may develop small scars or non-significant plaques, men who carry the gene* develop plaques and pathologic scarring.

* Genetics is far more complex than it once was. Now when we say "carry" we mean something like "a complex of interacting genetic material" with one or more interacting mutations.