9.3.1 Clinical appearance and examination

While infertility as such is usually not accompanied by any characteristic clinical appearance of the patient, depending on the degree of testosterone deficiency, hypogonadism leads to distinct symptoms, which—if fully expressed—can be easily recognized. Testosterone is necessary throughout life and creates identifiable phenotypical expressions in the various phases of life.

The onset of lack of testosterone can be estimated from the clinical appearance of the patient. Concerning clinical symptomatology, some androgen-determined phenotypical features require continuous androgen action (for example, beard growth, haematopoiesis, and libido), while others, once induced by testosterone, may be maintained without the continuous support of testosterone (for example, size of larynx and penis). Intrauterine lack of testosterone at the time of sexual differentiation may lead to various disorders of sexual differentiation (DSD). Postnatally, the clinical appearance of hypogonadism depends on whether the lack of testosterone becomes manifest before or after puberty (Table 9.3.1.1). While lack of testosterone before and during puberty may lead to the full picture of eunuchoidism, after regular completion of puberty its symptoms may remain relatively hidden.

If testosterone deficiency exists at the time of normal onset of puberty, then a eunuchoid tall stature results. This occurs because of delayed or absent epiphyseal closure, which is normally facilitated by increasing testosterone levels. Consequently, the arm span exceeds the body length and the legs become longer than the trunk. These measurements must be taken carefully and special equipment may be required for measuring the arm span, reaching from the tip of the right to the tip of the left middle finger. If the span exceeds height by 5 cm, and the lower body segment exceeds the upper by a similar amount, then the patient has eunuchoid proportions. Because of these characteristic body proportions, the patients are short when sitting (‘sitting dwarfs’) and tall while standing (‘standing giants’). Patients may remain short if other central disorders are present, especially those affecting thyroid function or growth factors. However, bodily proportions develop similarly to those seen in eunuchoid tall stature.

Onset of testosterone deficiency after puberty does not result in a change of body proportions, although musculature can be atrophic depending on the duration and degree of androgen deficiency.

Early testosterone deficiency leads to narrow shoulders and a broad pelvis so that the eunochoid habitus lacks the typical male V-shape of the body. Fat distribution shows female characteristics emphasizing hips, buttocks and lower abdomen. Exact measurement of abdominal circumference (by tape measure) is part of every medical status, as it not only correlates with testosterone levels (1), but also with life expectancy (2).

Long-standing androgen deficiency leads to osteoporosis, which may cause a round back, usually only seen in old men (and women), even at a younger age. Osteoporosis may also cause severe lumbago and pathological bone fractures, especially of the spine and hips.

Mutation of the voice is a characteristic of normal puberty. The growth of the larynx and the timing of voice deepening correlate with testicular growth and depend on the rise of biologically active testosterone during puberty (3, 4). Lack of testosterone prevents mutation of the voice, and patients with testosterone deficiencies can easily be recognized by their high-pitched voices. In rare cases, if musical, they may become sought-after soprano singers, but most patients are significantly inconvenienced by this lack of masculinity. If hypogonadism develops after puberty, no change of the already mutated voice occurs. It should be mentioned that countertenors intentionally modify their voices into the alto or mezzo-soprano range, while their testicular and reproductive functions are normal.

In early onset hypogonadism, the frontal hair line remains straight, beard growth is lacking or sparse, shaving is seldom or never necessary, and the upper pubic hairline remains horizontal. If hypogonadism develops after puberty, temporal hair recession and balding remain unaffected, but secondary sexual hair and body hair becomes sparser (5). When evaluating hair distribution, ethnic differences have to be considered. For example, Eastern Asian men have less facial and body hair than Caucasians without biochemical signs of different testosterone levels and metabolism (6). The length of the androgen receptor gene’s CAG repeats appears to be responsible for this phenomenon, as it is for male baldness (7).

Due to lack of sebaceous gland stimulation by testosterone the skin remains dry (8) and acne rarely develops. Light anaemia and decreased blood circulation of the skin cause pallor. Exposure to sun leads to little pigmentation. These features may give the patients a young appearance and their real age is often underestimated. However, hypogonadal men develop fine wrinkles of the periorbital and perioral skin relatively early in life. Postpubertal androgen deficiency may cause hot flashes.

Gynaecomastia is an important diagnostic finding in hypog-onadism. The reader is referred to Chapter 9.7 for a complete evaluation.

The existence of hyposmia or anosmia, both important diagnostic indicators of Kallman’s syndrome, is recorded following directed questioning and systematic examination. Patients with Kallman’s syndrome are unable to perceive aromatic substances (e.g. vanilla, lavender); however, substances irritating to the trigeminal nerve (e.g. ammonia) are recognized.

Palpation is performed with the patient standing. A supine position is chosen if a testis is not palpable or is difficult to palpate. Cold and excitement of the patient are to be avoided since they can induce a cremasteric reflex and thus cause retraction of the testis. The normal testis has a firm consistency. When gonadotropin stimulation is absent, the testes are soft. Small (less than 6 ml) and firm testes are typical of Klinefelter’s syndrome. A fluctuating to tightly elastic consistency indicates a hydrocoele, which is confirmed through ultrasonography. Differences in testicular consistency between the two sides, a very hard testis, or an uneven surface raise suspicion of a testicular tumour. Testicular size is determined by palpation and comparison to testis-shaped models of defined sizes (orchidometer). A healthy European man has an average testicular volume of 18 ml per testis; the normal range is between 12 and 30 ml. A higher testicular volume is known as a megalotestis (9). Testicular volume should be measured accurately by ultrasonography, which also reveals intratesticular pathologies (Chapter 9.3.4). Normal testicular volume in combination with azoospermia indicates an obstruction of the seminal duct, as testicular volume is correlated with sperm production, albeit within wide margins.

The presence of maldescended testes or unilateral/bilateral anorchia should be recorded. In the case of cryptorchidism, the testis lies intra-abdominally or retroperitoneally above the inguinal canal and cannot be palpated. The inguinal testis is fixed in the inguinal canal. The retractile testis is located at the orifice of the inguinal canal and can be temporarily moved into the scrotum, or migrates spontaneously between the scrotum and the inguinal canal, for example, in response to cold or coitus. In the case of an ectopic testis, the testis lies outside the normal path of descent and is mostly not palpable.

The normal epididymis can be palpated as a soft organ in a craniodorsal position relative to the testis. Smooth cystic distensions indicate a distal obstruction; indurations indicate an obstruction caused by diseases such as epididymitis, and sexually transmitted infections including gonorrhoea. Spermatocoeles appear as firm, elastic spherical formations, mainly in the area of the head of the epididymis. Painful swelling of the epididymis indicates acute or chronic inflammation; soft tumourous swelling of the epididymis can be found in cases of a rare tuberculoma.

With the patient standing upright the deferent duct can be palpated between the vessels of the spermatic chord as a firm thin tube. It is important to ascertain its full length since complete or partial absence may be a cause of azoospermia (Chapter 9.4.10).

A varicocoele, a distension of the venous pampiniform plexus usually appearing on the left side, is diagnosed by careful palpation of the standing patient. The veins distend with increasing abdominal pressure during the Valsalva manoeuvre. Depending on the results of inspection and palpation, the varicocoele is assigned to one of the following grades:

While grade III varicocoeles can be diagnosed easily, the diagnosis of smaller varicocoeles depends largely on the experience of the investigator. In addition, palpation can be complicated by previous surgery, hydrocoeles, or maldescended testes. Ultrasound examination is the best method for objective diagnosis (Chapter 9.3.4).

The penis remains infantile if hypogonadism becomes manifest before onset of normal puberty. If hypogonadism appears after puberty, changes in penile size do not occur. Among Europeans, the erect penis is between 11 and 15 cm long. During examination of the penis, the urethral orifice must be localized, as even minor forms of hypospadias can lead to infertility. Phimosis is diagnosed by the inability to retract the prepuce. Deviations of the penis during erection and resulting problems in cohabitation should be described by the patient, and deviations documented by autophotography.

Rectal examination reveals the normal prostate gland to have a smooth surface and to be the size of a horse chestnut. In cases of hypogonadism, prostate volume remains small and the normal age-dependent increase in volume is not seen. A doughy, soft consistency points to prostatitis, general enlargement to benign prostatic hyperplasia, knobby surface and hard consistency to a carcinoma. More information can be obtained through transrectal ultrasonography of the prostate and seminal vesicles (Chapter 9.3.4). If ejaculates can be produced, the volume is low due to the lack of testosterone (less than 1.5 ml).