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Case History

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Image not available. A 19-year-old student presents to her new general practitioner having never had a period. She is otherwise completely well. She is 172 cm tall and weighs 60 kg (body mass index 20 kg/m2). She has never been troubled by her lack of periods, but wonders whether she needs to take contraception.

What further investigations should she have?

What management should you offer?

How would you advise her about her future fertility and her long-term health?

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Background

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Image not available. Primary amenorrhoea is the failure to establish normal menstruation.1,2 Defining the age for investigation is difficult and one could argue that if a young woman is concerned about delay then it should be investigated at that time. In Western society, the majority of girls start menstruating by the age of 13 years and periods usually begin within two years of the development of secondary sexual characteristics. Primary amenorrhoea may be diagnosed when no menstruation has occurred by age 16 years in the presence of normal secondary sexual characteristics. These involve breast development and pubic and axillary hair growth and can be classified using the Tanner system. Oestrogen is required for breast development. Some androgen is required to develop pubic and axillary hair. If, however, there is no secondary sexual development, primary amenorrhoea may be investigated at age 14 years. It is estimated that 0.3% of girls experience primary amenorrhoea.3

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By far the commonest cause for a delay in the onset of menstruation is constitutional delay; this is often familial. However, it can be reassuring to arrange initial investigations to reassure the patient and her family that all appears normal. To achieve puberty, the hypothalamus starts to release gonadotrophin-releasing hormone (GnRH) in a pulsatile fashion. Several factors may contribute to a delay in this development such as low weight, excessive exercise (particularly endurance sport such as running) or stress.4,5 It may be helpful to address these issues directly.

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What further investigations should she have?

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The initial categorization of primary amenorrhoea (see Table 7.1) depends on the presence or absence of secondary sexual characteristics and the presence of short stature.

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Table Graphic Jump Location
Table 7.1Causes of primary amenorrhoea
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If the patient also has short stature, specialist referral should be considered. In the history, there may be pointers towards hypothalamic damage from trauma or hydrocephalus secondary to infection. Chromosomal abnormality such as Turner's syndrome is associated with short stature and other physical ...

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