A couple presents with infeility. On investigating, the husband is found to have azoosermia on semen analysis. Vas was not palpable on perrectal examination. Semen had low volume, high viscosity and fructose was present. What will you do next ?

Correct Answer: CFTR gene mutation analysis
Description: Next line of management is CFTR gene mutation analysis MALE FACTOR INFEILITY For couples of unknown feility status, approximately 15% are unable to achieve a pregnancy within 1 year. The inability to conceive may be due to female factor infeility, male factor infeility or a combination of these two factors and approximately 20% of cases of infeility are caused entirely by the male factor. Aetiology The two main causes of male factor infeility are either primary testicular causes or obstruction at the level of either the vas or the epididymis. A few cases reflect endocrinological abnormalities such as hypogonadism or hyperprolactinaemia. Testicular causes include chromosomal problems (e.g. Klinefelter's syndrome), microdeletions of the Y chromosome, cryptorchidism, mumps orchitis, drugs and radiation damage. In most cases however, the cause is unclear. In these cases, there may be reduced numbers of sperm in the ejaculate (oligozoospermia) or a complete absence of sperm in the ejaculate (azoospermia). Obstructive causes include congenital absence of the vasa (often in association with cystic fibrosis), surgical damage to the vasa and epididymitis. Azoospermia is inevitable in these cases. Assessment and investigation Given the interplay between male and female factors, the man should not be investigated in isolation from his female paner. A careful history is the mainstay of the assessment with a careful search for aetiological factors. Physical examination is usually normal, but occasionally the testes may feel small (suggestive of a testicular cause), the vasa may be absent, there may be evidence of endocrine abnormalities(gynaecomastia or abnormal hair distribution) or there may be a varicocoele. The relation of any varicocoele to the infeility is controversial and treatment is not usually indicated. The woman should be also be assessed. It is impoant to remember that female feility declines from the age of 35 years in a way that is not true of men. The age of the woman is therefore impoant and the regularity of menstruation should be confirmed either by temperature testing or by endocrinological testing. The assessment of the man includes semen analysis, which should be tested within 2 hours of the semen being produced. Two or three samples should be tested. The volume of the ejaculate, the numbers of sperm, their motility and the percentage of abnormal or damaged sperm are all predictive of male feility. An endocrine screen should be performed including serum testosterone, prolactin, follicle-stimulating hormone (FSH) and luteinising hormone (LH). Ref: Bailey and love 27th edition Pgno : 1511
Category: Surgery
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