6.1 Introduction

The polycystic ovary syndrome (PCOS) is a common condition, affecting 10%–15% of women, and is defined by the presence of at least two of the following three criteria (Table 6.1): (1) a menstrual cycle disturbance, that is oligomenorrhoea or amenorrhoea, (2) evidence of hyperandrogenism, as assessed by either physical signs (excess hair growth on the face or body (hirsutism), acne, alopecia) or a biochemical elevation of androgens, and/or (3) polycystic ovaries as seen by ultrasound scan, after appropriate endocrine tests have been carried out to rule out other causes of androgen excess and menstrual cycle irregularity. PCOS therefore encompasses many of the natural features experienced by adolescent girls and so it is important to ensure that an appropriate diagnosis is made. Indeed, for this reason, the current guidelines suggest that the diagnosis of PCOS cannot be made until at least 3 years after menarche and some even suggest that one should wait for 8 years, which is when full reproductive maturity has usually been attained. It is important that adolescents are properly educated about the natural changes during puberty so that they have a full understanding of how their bodies work and their reproductive health and what to do if things are not right.

6.2 Diagnosis of PCOS in Adolescence

The polycystic ovary syndrome (PCOS) is a condition with a heterogeneous collection of signs and symptoms that gathered together form a spectrum of a disorder with a mild presentation in some, whilst in others there may be a severe disturbance of reproductive, endocrine and metabolic function. The aetiology and pathophysiology of PCOS is multifactorial, with genetic and environmental factors that influence in utero development of the hypothalamic–pituitary–ovarian axis, ovarian function, fat deposition and adipocyte function, and insulin metabolism. Furthermore, there are ethnic variations in presentation, with some ethnicities exhibiting a greater degree of hirsutism (e.g. South Asians compared with East Asians).

For most the syndrome usually evolves during adolescence, there is considerable heterogeneity of symptoms in those with PCOS and for an individual these may change over time. Polycystic ovaries can even exist without clinical signs of the syndrome, and this is a common finding during adolescence when the ovaries naturally have a high number of follicles. Using modern, high-resolution ultrasound technology, the consensus for the morphology of the polycystic ovary has been defined as an ovary with 20 or more follicles measuring 2–9 mm in diameter and/or increased ovarian volume (>10 cm³), although this assessment can only realistically be made in adult women and age-specific cut-offs for the definition of the polycystic ovary have not yet been agreed for adolescent girls. Furthermore, an abdominal ultrasound scan rather than a trans-vaginal scan is usually required in adolescent girls, when an ovarian volume of greater than 10 cm³ is considered likely to represent the present of polycystic ovaries.

Menstrual disturbance, usually oligomenorrhea and sometimes primary or secondary amenorrhea, is one of the key features of PCOS in the adult (Table 6.2). However, in adolescence, menstrual irregularities are very common with between 40–85% having anovulatory cycles. There is a progression towards more ovulatory cycles with increasing gynaecological age (that is age after menarche), increasing from 23%–35% during the first year after menarche to 63%–65% by 5 years after menarche. It has been suggested that half of adolescent girls who have persistent oligomenorrhea or secondary amenorrhea beyond 2 years after menarche are affected by a permanent ovulatory disorder. Various factors influence ovarian function, in particular an individual’s body weight and nutritional status.

Acne is common during the adolescent years and in most subjects is a transitory phenomenon that correlates poorly with circulating hormone levels. Hirsutism may be a better marker of hyperandrogenism, and progressive hirsutism during the adolescent years may be an important sign of PCOS. Biochemical markers, predominantly an elevated serum testosterone concentration, may also vary and do not correlate well with clinical signs.

There are a number of interlinking factors that may affect expression of PCOS. For example, a gain in weight is associated with a worsening of symptoms whilst weight loss may ameliorate the endocrine and metabolic profile and symptomatology. The features of obesity, hyperinsulinaemia and hyperandrogenaemia which are commonly seen in PCOS are also known to be factors which confer an increased risk of cardiovascular disease and non-insulin-dependent diabetes mellitus (type 2 DM).

There is no agreement concerning how to diagnose PCOS in adolescence. In fact, during the transition of girls into adulthood, several features may be in evolution or may only be transitory findings. If there are features suggestive of PCOS then a tentative diagnosis may be assumed and discussed with the patient and her parents. Management should be orientated towards the symptoms she is experiencing and lifestyle advice given (see below). When the diagnosis cannot be confirmed, the individual should be followed closely until adulthood, and the diagnosis should be re-considered if the symptoms persist.

6.2.1 Examination

Measurement of height and weight should be performed in order to calculate the patient’s body mass index (BMI). The normal range is 20–25 kg/m², although this is only applicable once adult height has been attained and so may not be appropriate during early adolescence, when paediatric growth charts should be used.

Signs of hyperandrogenism – acne, hirsutism, alopecia – are suggestive of PCOS, and biochemical screening helps to differentiate other causes of androgen excess. It is important to distinguish between hyperandrogenism and virilisation, which also occurs with higher circulating androgen levels than seen in PCOS and leads to deepening of the voice, breast atrophy, increase in muscle bulk and cliteromegaly. A rapid onset of hirsutism suggests the possibility of an androgen-secreting tumour of the ovary or adrenal gland, although these are very rare.

Hirsutism is characterised by terminal hair growth in a male pattern of distribution (Figure 6.1), including the chin, upper lip, chest, upper and lower back, upper and lower abdomen, upper arm, thigh and buttocks. A standardised scoring system, such as the modified Ferriman–Gallwey score (Figure 6.2), may be used, with a level ≥4–6 indicating hirsutism. Such a pictorial score is useful for monitoring the progress of hirsutism, or its response to treatment. It should be remembered, however, that not all hair on the body is necessarily responsive to hormone changes (e.g. the upper thighs). There may also be big ethnic variations in the expression of hirsutism, with women from South Asia and Mediterranean countries often having more pronounced presentation. whereas those from the Far East may not have much in the way of bodily hair. Furthermore, the degree of hirsutism does not correlate that well with the actual levels of circulating androgens.

Figure 6.1 Hirsutism.

Figure 6.2 Ferriman–Gallwey score.

Alopecia is uncommon during adolescence and is a very distressing symptom. It may be associated with iron deficiency and other nutritional deficiencies and so malabsorptive syndromes such as coeliac disease should also be excluded.

Acne is common in adolescents and a pictorial score may also be kept, although there isn’t a universally agreed classification. Acanthosis nigricans is a sign of profound insulin resistance and is usually visible as hyperpigmented thickening of the skin folds of the axilla and neck and is associated with PCOS and obesity

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