Introduction

Hair follicles are stimulated by androgens to either enlarge on the face and body or to shrink on the vertex of the scalp. These changes occur in the female after puberty and probably develop to a small extent in all women. A small number of women develop excessive changes in hair, prompting advice from beauty therapists or physicians. The heaviness of facial or body hair growth that is necessary for a woman to consider herself to be hirsute is dependent on racial, cultural, social and economic factors. Although the pattern of hair growth is similar in all races, there is a variation in the heaviness of growth between ethnic groups. Furthermore, Shah (1957) in India and Lunde and Grottum (1984) in Norway have both stressed that women are more likely to consider themselves to be hirsute if they have significant growth on the upper lip, chin, chest and upper back.

The problem with defining hirsutism is that all measurements are subjective (Barth 1997). Large studies of unselected women in the USA (DeUgarte et al 2006) and Scandinavia (Lunde and Grottum 1984) have shown that it is impossible to separate hirsute from non-hirsute women on the basis of hair scoring scales, as women with similar hair scores may or may not consider that they have excessive hair growth. The problem with physician scales is that they do not consider the effect of hair localization. Is a women with facial hair but no body and limb hair more or less hirsute than a woman with a hairless face but a hairy trunk and limbs?

The standard scoring scale designed by Ferriman and Gallwey (1961) (Figure 26.1) defined 1.2% of females as hirsute, but this was based purely on mathematical grounds (i.e. 2 standard deviations from the mean). This contrasts with women’s perspectives. A study of 400 unselected students, 60% of whom were Welsh, showed that 9% considered themselves to be disfigured by their facial hair growth (McKnight 1964). A study of unselected women in the USA found that approximately 20% of women had modified Ferriman and Gallwey scores greater than 3, and of these women, 70% considered themselves to have excessive facial and body hair. Furthermore, women with hirsutism give their hair growth a higher score than their physicians (Kozloviene et al 2005).

Figure 26.1 The hirsuties scoring scale designed by Ferriman and Gallwey. The body is dived into 11 zones as illustrated, and each zone is scored 0–4 giving a maximum score of 44. Ferriman and Gallwey excluded the lower arm and leg, and defined hirsuties as a score of >8. Unfortunately, there is considerable interobserver variation in scoring, so all investigators need to standardize their individual score rates.

The subjectivity in the concept of hirsuties can be simplified by accepting that any woman who complains of excessive hair is hirsute. It then follows that the physician’s role is to determine whether invasive investigations (see below) are required, and what sort of therapy is most appropriate for the degree of hair growth.

Hirsuties or hypertrichosis?

Hirsutism is a purely clinical diagnosis which is based on the growth and pattern of hair on the face and body of women. The pattern of hair growth in hirsute women is assumed to follow a similar pattern to that which develops on males after puberty. Hair first appears on the upper lip, followed by the chin and cheeks, and then the lower legs, thighs, forearms, abdomen, buttocks, chest, back, upper arms and shoulders. The hair shafts themselves are coarse, curly and tend to rise above the skin surface, rather than lying flush with the skin as in hypertrichosis.

Hypertrichosis needs to be differentiated as it is not androgen mediated and therefore does not respond to antiandrogen therapy. The onset of hair growth is not related to puberty; there is no hair growth pattern but there is a uniform diffuse growth of hair over the body. The individual hair shafts tend to be finer and lie flat against the skin, rather than being coarse, curly and rising above the skin surface. Hypertrichosis may be congenital or acquired due to drug therapy and some metabolic disorders (Table 26.1).

Table 26.1 Aetiology of hirsuties and hypertrichosis

Causes of hirsutism	Causes of hypertrichosis
Ovarian, e.g. polycystic ovary syndrome, ovarian tumours Adrenal, e.g. congenital adrenal hyperplasia, adrenal tumours Cushing’s syndrome Gonadal dysgenesis Androgen therapy Valproate therapy for epilepsy Obesity (due to consequent PCO) Prolactinoma (due to consequent PCO) Stress Idiopathic	Drug therapy, e.g. cyclosporin, diazoxide, minoxidil, penicillamine etc. Congenital disorders, e.g. hypertrichosis lanuginosa and other syndromes often associated with mental retardation Acquired hypertrichosis lanuginosa as a paramalignant condition Metabolic disorders, e.g. lipodystrophy, mucopolysaccharidoses, malnutrition

PCO, polycystic ovaries.

Investigation

A diagnosis of hirsutism is based purely on the patient’s history and clinical examination. The purpose of investigation is to determine if there is any significant underlying condition which will influence further management. The majority of patients will have underlying polycystic ovary syndrome, and any investigative strategy should be designed to select those subjects who have a significant endocrinopathy that requires specific therapy.

Diagnostic approach to the hirsute woman

The history of the duration and severity of hirsutism is helpful if there is suspicion of a serious underlying cause:

• longstanding mild hirsutism with regular cycles and no features of systemic virilization; these women require no further investigation;

• longstanding moderate hirsuties with or without menstrual cycle disturbances. Most of these patients will have polycystic ovaries. Further investigation is only required if serum testosterone is elevated or if the patient seeks therapy for another symptom related to hyperandrogenism, such as infertility; and

• recent-onset hirsuties and virilization, or very severe hirsuties with a long history. Features of systemic virilism include: cliteromegaly, deepening of the voice, recent-onset temporal balding, increasing muscle bulk and decrease in breast size. These women require a comprehensive endocrine evaluation for an androgen-secreting tumour (Figure 26.2).

Figure 26.2 Diagnostic approach for a woman complaining of excess facial and/or body hair. PCO, polycystic ovaries; LH, luteinizing hormone.

What is the evidence for this approach?

There have been two large studies to support this approach. Both confirmed the very low prevalence of serious endocrine disease, and it is clear that with the evidence of clinical case histories, these conditions are largely apparent on history and clinical examination.

Moran et al (1994) reported on 250 premenopausal (<38 years) women presenting with various symptoms who were noted to be hirsute. Ninety-six percent were diagnosed with polycystic ovaries, idiopathic hirsuties or obesity; 2% were diagnosed with congenital adrenal hyperplasia (CAH); and 1.6% were either iatrogenic (one case) or due to an ovarian tumour (two cases) or Cushing’s syndrome (one case).

O’Driscoll et al (1994) reported a series of 350 consecutive patients who had presented with either hirsuties or androgenic alopecia. They identified eight women from this series with clear endocrine diseases; two had pituitary tumours (prolactinoma and acromegaly). The others were identified by a grossly elevated serum testosterone (>5 nmol/l). In total, 13 women had elevated testosterone; six had polycystic ovaries, two had late-onset CAH, one had virilizing CAH that had been ignored in childhood, one had an adrenal carcinoma, one had a postmenopausal Leydig cell tumour, one had corticosteroid 11-reductase deficiency, and the diagnosis in one hyperandrogenized postmenopausal woman was not elucidated. On the basis of the clinical details given in the report, only two diagnoses of late-onset CAH would have been missed by clinical evaluation alone (one had regular cycles and two children, the other had a long history of oligomenorrhoea; both had polycystic ovaries on ultrasound examination).

Arguably, the most important purpose for investigation is to identify those women with androgen-secreting tumours, since they require different therapy. Derksen et al (1994) reported a series of two adrenal adenomas and 12 carcinomas in which hirsutism was the presenting symptom. The women with adenomas were described as being severely virilized. Six of the women with carcinoma had clinical signs of Cushing’s syndrome; of the remaining six cases, four were severely virilized and the other two women presented with abdominal pain.

Functioning ovarian tumours which secrete androgens and therefore cause virilization are rare and represent only 1% of all ovarian tumours. In these cases, hirsuties is a nearly universal feature. Amenorrhoea develops rapidly in all premenopausal patients, and systemic virilization with alopecia, cliteromegaly, deepening of the voice and a male habitus develops in approximately half of patients. Meldrum and Abraham (1979) reviewed the literature of 43 women with virilizing ovarian tumours; seven had a serum testosterone level below 7.0 nmol/l but all were clinically virilized, and one 65-year-old woman was reported as not virilized but her serum testosterone level was more than 12 nmol/l.

In conclusion, the vast majority of hirsute women have polycystic ovaries, and those women with androgen-secreting tumours can be identified by clinical evaluation and a single serum testosterone estimation (Figure 26.3).