Case Study Azoospermia

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Case Study Azoospermia

Case Study Azoospermia

Possible Causes of Azoospermia

Genetic factors can cause pretesticular, testicular, and posttesticular azoospermia (or oligospermia) and include the following situations: The frequency of chromosomal abnormalities is inverse proportional to the semen count, thus males with azoospermia are at risk to have a 10-15% abnormalities on karyotyping versus about <1 % in the fertile male population.

Pretesticular azoospermia may be caused by congential hypopituitarism, Kallmann syndrome, Prader-Willi syndrome and other genetic conditions that lead to Gnrh or gonadotropin deficiency. Testicular azoospermia is seen in Klinefelter syndrome(XXY) and the XX male syndrome. In addition, 13 % of men with azoospermia have a defective spermatogenesis that is linked to defects of the Y chromosome. Such defects tend to be de novo micro-deletions and affect usually the long arm of the chromosome. A section of the long arm of the Y chromosome has been termed Azoospermia Factor (AZF) at Yq11 and subdivided into AZFa, AZFb, AZFc and possibly more subsections. Defects in this area can lead to oligospermia or azoospermia, however, a tight genotype-phenotype correlation has not been achieved. Spermatogenesis is defective with gene defects for the androgen receptor. (Toulis 2010 713-724)

Posttesticular azoospermia can be seen with certain point mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene commonly associated with congenital vas deferens abnormalities. Genetic counselling is indicated for men with genetic causes of azoospermia. In terms of reproduction, it needs to be considered if the genetic defect could be transmitted to the offspring. Following is a list of causes or underlying conditions that could possibly cause Azoospermia includes:

High fever - causing temporary lack of sperm

Undescended testicle

Testicle conditions

Obstructions of seminal passages

Testicle infection

Certain hormonal disorders (Schlegel 2004 561-72)

Likely Cause of Roberts' Azoospermia

I think, the likely cause of Roberts' azoospermia is Cystic Fibrosis. Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body. (Poongothai 2009 336-47)

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance. CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.

The World Health Organization states that "In the European Union 1 ...