Tuberous Sclerosis, polycystic kidney disease rises after the age of 29 Paul Turek

"The inherited bleeding disorder, hemophilia A, results from quantitative or qualitative deficiency of coagulation FVIII and affects 1 in 5000 males.
There are approximately 17, 000 patients with hemophilia in the United States, 80% of whom have hemophilia A"




SYNDROMES WITH REPRODUCTIVE DYSFUNCTION
Paul J. Turek M.D.
Associate Professor, Departments of Urology, Obstetrics, Gynecology
and Reproductive Sciences, University of California San Francisco


Table 1. Selected Genetic Disorders Associated with Advanced Paternal Age
Achondroplasias Aniridia
Apert syndrome Bilateral Retinoblastoma
Crouzon syndrome Fibrodysplaisa Ossificans
Hemophilia A Lesch Nyhan syndrome
Marfan syndrome Neurofibromatosis
Oculodentodigital syndrome Polycystic kidney disease
Polyposis coli Progeria
Treacher-Collins syndrome Tuberous sclerosis
Wardenburg syndrome
Formal risk estimates for the contribution that advanced paternal age makes to autosomal
dominant mutations have been calculated. Friedman estimated that in men <29 years old, the risk
of a mutation occurring in offspring is 0.22/1,000. This risk peaks at 4.5/1,000 at paternal ages
40-44 and then drops to 3.7 /1,000 at ages >45 (22). The risk for a father over 40 years old to
have a child with an autosomal dominant mutation equals the risk of Down syndrome for a child
whose mother is 35-40 years old. These risk estimates were corroborated in a study by Lian et al
in which all kinds of birth defects (anatomic and genetic) were assessed against paternal age
using data over 12 years from Atlanta (23). They found no increase in chromosomal disorders
with advanced paternal age, but estimated that fathers over the age of 40 years had a 20% greater
incidence of having a baby born with a serious birth defect. More recently, an indicting
relationship between advanced paternal age and offspring with schizophrenia has become
apparent (24).


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