Manhood: The Rise and Fall of the Penis (43 page)

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Echography is a painless form of examination using sound waves, with which organs and blood vessels can be examined. Echography in the case of a subfertile man concerns mainly the contents of the scrotum, the groin, the prostate and the seminal glands. An echo can give indications of abnormalities in the testicle (inflammation, tumours), the epididymsis (engorgement, inflammation) and in the membranes surrounding the testicle (hydrocele). In combination with a measurement of the flow speed (colour Doppler echography), examination of the seminal cord can help locate a varicose vein quickly.

Echography of the prostate and seminal glands is called for if there is a suspicion of inflammation or if the volume of sperm is repeatedly too low. This examination is performed by the rectal insertion of an echo sensor, which is placed against the prostate. This is not painful and can be carried out in an outpatient department. In this way abnormalities of the prostate (inflammation, calcification, enlargement, cancer) and the seminal glands (engorgement, or absence) can be brought to light.

The level of hormones like lh, fsh, inhibine and testosterone in the blood can be measured. With the passage of time there is a clear reduction in inhibine concentration and an increase in fsh. Both phenomena point to reduced sperm production. This loss begins shortly after the age of 21. This is not, though, the first sign of aging: that has to be the loss of one’s milk teeth.

Heredity

In about 20 per cent of men with fewer than 20 million sperm cells per millimetre a genetic abnormality is found. A genetic investigation is called for if during a physical examination abnormalities are found which might be consonant with a genetic disorder (for example, the absence of seminal ducts or certain genetic disorders occurring in the family). Investigation of genetic abnormalities in subfertile men has only taken off in the last few decades, partly as a result of new reproduction techniques. Genetic investigation consists of two parts: karyo -

typing and dna examination. In karyotyping, all the chromosomes in a cell, generally a blood cell, are coloured and counted under the microscope and subsequently examined separately. The main abnormalities that may be found are: an abnormal number of chromosomes (46 is the norm) or an abnormality in one or more chromosomes, like the lack of a section of chromosome. The section may have transferred to another chromosome (translocation) or been lost (deletion). Kline -

felter’s syndrome is the best-known example of an abnormal number.

At least 1 in every 1,000 newborn boys have this syndrome. In the great majority of cases these men are infertile.

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vo l u n ta ry a n d i n vo l u n ta ry s t e r i l i t y One of the most striking phenomena in Klinefelter’s syndrome is the marked underdevelopment of the testicles, which usually do not grow beyond the size of a pea. Other characteristics are a relatively short penis, the formation of mammary glands, greater than average height, sparse beard growth and little pubic hair, which in addition often has a female growth pattern, namely with a horizontal upper limit. A man with an extra x chromosome is bound to be effeminate, would seem to be the obvious assumption, but that is totally wrong.

And it is equally wrong to imagine that such a man is necessarily bisexual. If boys with Klinefelter’s syndrome receive testosterone treatment in puberty, they grow into very masculine men, quite able to hold their own sexually!

dna diagnosis

In recent years dna diagnosis has become a rapidly developing field: more and more syndromes are being shown to be genetically determined and in a number of diseases it has become clear that a small part of the chromosome, the gene, is not functioning properly. An example of this is cystic fibrosis, a genetic disorder affecting a gene of chromosome number seven. This poorly functioning gene causes thick sticky mucus in, for example, the airways and the pituitary gland. Blockages of these organs lead to chronic airway infections and growth problems.

In many cases the epididymides, the seminal duct and the seminal glands are affected by this ailment. Because sperms are actually being produced in the testicles it is sometimes possible for a sufferer of cystic fibrosis and his partner to achieve a pregnancy through icsi, though a child fathered in this way risks developing a form of cystic fibrosis. For this reason examination of the man and if necessary of the woman is necessary prior to such treatment.

Recently the gene important in sperm production, the azf gene, was found in the male chromosome. Minor writing errors in the order of the dna molecules lead to disruptions in sperm cell production.

Mutations in the azf gene are found in between 5 and 15 per cent of all men with poor sperm quality. In the event of successful assisted reproduction these will be passed on to male descendants. This is yet another reason in cases of very poor sperm quality to consult a clinical geneticist.

Azoospermia and Sertoli cell only

When investigating infertility one regularly encounters azoospermia, the condition where no sperm cells at all are present in the ejaculate.

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The number of new cases per year in the Netherlands is estimated at 300 to 400, of which two-thirds are caused by abnormalities in the production of sperm cells and about a third by a ‘kink’ in the duct system, or an obstruction.

The firm diagnosis of ‘obstructive azoospermia’ is made by microscopic examination of a section the size of a grain of rice from the larger of the two testicles. A Johnsen score is given, which is obtained by assessing the sperm-cell forming tubules for the degree of maturation from stem cell to ‘mature’ sperm cells. The presence of fully grown sperm cells gives a score of ten, nine or eight, the presence of spermatids, sperm cells that are not quite mature, gives a score of seven or six, spermatocytes five or four and only spermatogonia, sperm cells that are far from mature, a score of three. The Johnsen score has a strong correlation with the quality of the spermatogenesis. With a normal spermatogenesis the average score is 9.4.

The Sertoli cell-only syndrome is one of the commonest causes of non-obstructive azoospermia. ‘Sertoli cell-only’ refers to what the pathologists see on microscopic examination of a section of testicular tissue, that is sperm-cell forming tubules that are too small, have a thickened wall and are coated only with Sertoli cells. No germinating sperm cells are found, let alone fully mature ones. Patients with Sertoli cell-only have a normal male body, but often rather small testicles. With them the level of fsh, the hormone that from the hypophysis prompts the testicles to produce sperm cells, is too high. The cause of the syndrome is unknown. Very exceptionally in the testicular biopsy small areas of normal sperm cell production are found alongside the Sertoli cell-only picture.

Nowadays sperm cells can be obtained directly from the testicle or the epididymis, so that no spermatozoa need be present in the ejaculate.

Because of these new options it is necessary for the pathologist to make a careful distinction between a ‘complete’ and an ‘incomplete’ Sertoli cell-only syndrome. For this reason several biopsies are done in dif ferent directions. In Belgium by doing several ‘open’ testicular biopsies doctors succeeded in obtaining sperm cells from a third of these patients, which means that even with a serious disruption of sperm cell production, icsi (see below) is sometimes possible.

Defying Darwin

The oldest form of assisted reproduction is artificial insemination, in which a syringe or a pipette is used to bring the sperm into close proximity with the mouth of the womb. In 1780 the Italian scientist Spallanzini was the first to do this successfully, with a bitch. In 1799

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vo l u n ta ry a n d i n vo l u n ta ry s t e r i l i t y John Hunter was the first to carry out the procedure with a woman.

The sperm involved was that of a man with a deformation of the urethra, and Hunter injected it into the vagina of the man’s wife. The technique did not catch on: there was quite simply no one to be found who wanted to take on this ‘blasphemous’ process. It was 1866 before the American gynaecologist J. Marion Sims, later a celebrated figure, took up artificial insemination again, putting sperm directly into the womb. From that time on the treatment was used very sparingly, mostly with married couples where the husband had become infertile because of bilateral gonorrhaeal inflammation of the epididymis.

In his book
Fertility in Marriage and Ways of Influencing It
, Th. H.

van de Velde gives an account of how the pioneering American researcher Robert Latou Dickinson (1861–1950) conveyed the sperm directly to the Fallopian tube via the womb. H. Sellheim constructed an apparatus, the
Tubenbesamer
, with which the sperm could be blown into the Fallopian tubes; G. Fraenkel went even further: his advice was that if for any reason the abdomen had to be opened up, the ejaculate or
punctuate
from the epididymis should be brought into the immediate vicinity of the ovaries . . . Yet another gynaecologist suggested the idea of injecting sperm directly into the abdominal cavity from the back of the vagina, reasoning that by no means all sperm cells would immediately perish and that a few might even reach one of the ovaries.

Today artificial insemination is practised mainly by farmers. Approximately 90 per cent of cows and between 10 and 30 per cent of pigs are artificially inseminated. From the point of view of the breeder artificial insemination has many advantages over natural servicing, including the non-transmission of sexually transferable diseases.

Up to the mid-1970s artificial insemination was the only method of assisted reproduction available to help those suffering from involuntary childlessness. However, in the 1970s researchers and doctors developed a totally new kind of assisted fertilization: in-vitro fertilization (ivf). Two countries played a pioneering role – Australia and Great Britain – and four men are regarded as
the
founding fathers: the Britons Patrick Steptoe and Robert Edwards and the Australians Alan Troun-son and Carl Wood.

Ultimately it was the British pair who took the crown: in 1978

Steptoe and Edwards were able to present the first ‘test-tube baby’ to the world. The miracle baby’s name was Louise Brown. Incidentally, her sister Natalie, four years younger, was to be the first woman conceived by ivf herself to become a mother, only this time in the natural way. icsi is a complementary technique developed by Dr Gianpiero Palermo at the Free University of Brussels. In icsi a single living sperm cell is introduced into the ovum with a micropipette. The 229

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first experiments were carried out on mice, and in 1991 the first pregnancy was induced in a woman using icsi. By 2005 more than 400,000

had been born through icsi worldwide.

As of 2007 in Western Europe it is estimated that one in forty children were born with the help of the test tube – over one million babies worldwide – and if one includes other fertility-enhancing treatments, the proportion rises to one in twenty: these figures are hard to dismiss.

Women not eligible for test-tube fertilization are those who are obese, those over the age of forty and those with ‘bad’ ovaries. The last condition can be tested by determining the level of fsh in the blood.

Assisted fertilization methods include iui, icsi, pesa, tese, tesa. The table below gives an overview.

Treatment

What exactly is it?

iui

Intrauterine insemination

The injecting of sperm cells

into the uterus

ivf

In-vitro fertilization

Fertilization in the test tube

icsi

Intracytoplasmatic sperm

Injecting a sperm cell into an

injection

ovum

pesa

Percutaneous epididymal

Aspiration via the skin of

sperm aspiration

sperm cells from the epididymis

tese

Testicular sperm extraction

Obtaining sperm cells from

testicular tissue

One of the biggest problems in assisted reproduction techniques is the occurrence of multiple pregnancies. The risk of course increases in proportion to the number of embryos replaced. With multiple births delivery carries higher risks and there are frequent premature births, meaning that the babies not only spend a long period in hospital but also run the risk of, for example, retarded development. Doctors usually aim to replace as few embryos as possible.

Intracytoplasmatic sperm injection (icsi) is nothing more than a complement to in-vitro fertilization (ivf). In icsi a single living sperm cell is introduced into the ovum with a micropipette. Through the microscope the analyst selects a suitably mobile sperm cell, gives it a tap on the tail so that it is stunned for a second, then picks it up with a pipette and injects it into the ovum. As a potential parent you naturally hope that a Rolls Royce sperm cell is picked up, but the fact remains that you are defying Charles Darwin . . . In icsi at least, processes that play a part in natural fertilization are bypassed. In con-230