© 2018, GENASSIST, Inc.    

By Keith S. Wexler, MBA, CFO, Business Development Director, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital 

Definitions:

  • Azoospermia – No sperm count
  • Oligospermia – Low sperm count

Background:

We were contacted by a patient to have an amniocentesis due to the fact that her husband, who had been in the military, was exposed to an “unknown chemical agent” that left him with Azoospermia for over three years. The family was concerned that the “unknown chemical agent” might increase the chance of a chromosomal abnormality due to abnormal sperm production.

The husband was being followed by a Urologist who would repeat a specimens every 3 months. Spontaneously the husband became Oligospermic which eventually become low normal (less than 15,000,000 sperm per cc.).

Normal sperm volume is estimated between 15,000,000 and 200,000,000 sperm per cc with an average sperm count of 20,000,000 to 40,000,000 sperm.

The Urologist discussed the option of artificial insemination with sperm separation or sperm donation to lower the husband’s risk for an abnormal sperm or a chromosomal abnormality (i.e. abnormal sperm, broken sperm, two headed sperm, two tailed sperm).

The husband and his wife tried to conceive on their own and conceived spontaneously after a few months of trying.

We performed amniocentesis and the baby had a normal 46,XY male karyotype.

The pediatrician followed the child closely due to the concern of the “unknown chemical agent”, and at 6 years of age the son was identified with childhood leukemia. The child was treated and eventually was cleared of the disease.

Analysis:

This case helps illustrate the complexity of identifying prenatal, neonatal and pediatric problems when a patient is exposed to an “unknown chemical agent” and the healthcare provider does not know the risks of this agent.

Azoospermia and Oligospermia can be both genetic and non-genetic. 2% to 20% of men with a low or no sperm count will be found to have a chromosomal abnormality (e.g.. 47,XXY karyotype – Klinefelter Syndrome or Y microdeletions) most commonly.

Males with a sex chromosome abnormality such as 47,XXY are likely to have fertility problems. If their partner is able to conceive, the fetus is usually a normal 46,XY male or 46,XX female there is an increasing risk for child with a chromosomal abnormality with increasing maternal age and a possible increased risk for a child with a new mutation which had not occurred in the family before with increased paternal age.

When a patient is exposed to an “unknown chemical agent” or multiple drugs, chemicals or medications used in combination with one another, we are unable to give an accurate risk to a child since there is no literature that discusses multiple drugs and/or chemicals used in combination with one another.

With the current limits of technology (i.e. Non Invasive Prenatal Testing [NIPT]: 1st Trimester Screen, Maternal Fetal DNA, Microarray, Microdeletions, and ultrasound and Diagnostic Testing: Chorionic Villus Sampling (CVS) and amniocentesis) healthcare providers and families are often left in a “wait and see” mode.

Unfortunately, even knowing the history of the child now, there is no empirical evidence that we can tell the family with certainty that the childhood leukemia was or was not due to the “unknown chemical agent”.

The family does believe that their child would NOT have developed childhood leukemia if the husband had not been exposed to the “unknown chemical agent”.