The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay

Amenorrhoea, or the absence or interruption of menstrual periods, can be classified as primary or secondary. Primary amenorrhoea occurs when a female has not established menarche before 16 years of age, however often has normal growth and secondary sexual characteristics. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay. Secondary amenorrhoea occurs when a female who has previously established menarche does not have a menstrual period for 6 months or more. The primary focus of this report will be primary amenorrhoea, and will discuss the causes, management, diagnosis and complications.

Normal Menstrual Cycle

Menstruation is the process whereby the lining of the uterus is shed, as a result of the interactions of hormones secreted by the hypothalamus, pituitary gland and ovaries. More specifically, the hypothalamus secretes gonadotropin releasing hormone which acts on the anterior pituitary to produce luteinising hormone and follicle stimulating hormone, which in turn enable the ovaries to produce oestradiol and progesterone. A negative and positive feedback mechanism occurs to regulate this process. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay. The menstrual cycle is occurs in two phases – the follicular phase and the luteal phase. The follicular phase is characterised by the development of ovarian follicles, and occurs from day 1 of the menstrual cycle until ovulation (usually 14 days if the cycle is regular. The luteal phase is characterised by the development of the corpus luteum and ends with either fertilisation resulting in pregnancy, or luteolysis resulting in a menstrual period.

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Prevalence and Epidemiology

In the general population, the rate of primary amenorrhoea is around 0. 3%. Although menarche has been shown to occur at varying ages depending on ethnic origin and region, there is no evidence to connect the occurrence of primary amenorrhoea to ethnicity. The prevalence of amenorrhoea in the absence of pregnancy, lactation or menopause is around 3-4%.

Causes

Once physiological causes, such as pregnancy and constitutional delay have been excluded, it is important to investigate the pathological causes of primary amenorrhoea. Causes of primary amenorrhoea can be split into three categories: hypergonadotropic hypogonadism (48. 5% of cases), hypogonadotropic hypogonadism (27. 8% of cases) and eugonadism (23. 7% of cases). Hypergonadotropic hypogonadism patients may have chromosomal abnormalities such as Turner’s syndrome, which is associated with ovarian failure.  The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.Hypogonadotropic hypogonadism patients may express congenital abnormalities, such as isolated GnRH deficiency or hypopituitarism. Hypogonadotropic hypogonadism may also be associated with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and Cushing’s syndrome. Certain tumours, such as prolactinomas, may be present in this category of patients. It is also important to rule out other factors such as systemic illness or eating disorders in this group of women.

Eugonadism, in the presence of secondary sexual characteristics, may be a result of anatomical abnormalities, such as imperforate hymen, transverse vaginal septum, vaginal atresia or absent uterus – which may be associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (also known as Müllerian agenesis). These patients may also express intersex disorders, such as 17-ketoreductase deficiency, or inappropriate feedback.

Diagnostic Approach

It is important to obtain an adequate history from the patient in order to establish what may be causing her presentation with primary amenorrhoea. This should include:

• Gynaecological history – duration of amenorrhoea, sexual and contraceptive history, presence or absence of premenstrual symptoms and history of cyclical abdominal pain (may suggest haematocolpos caused by a genital tract abnormality);
• Lifestyle/social factors – (may suggest hypothalamic dysfunction) level of exercise undertaken, significant weight loss or gain, any recent events that may cause stress and history of illicit drug use;
• Family history – age of menarche of female first degree relatives (if family history of late menarche, may suggest constitutional delay), family history of genetic abnormalities and family history of infertility;
• Past medical history – any history of chronic illness, and medication history (particularly antipsychotics, chemotherapy and radiation exposure);
• Review of systems – including presence of headaches and galactorrhoea (which may suggest prolactinoma), hirsutism, acne and symptoms of thyroid disease. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.

It is then good practice to measure height and body weight to establish the patient’s body mass index prior to clinical examination, as well as ensuring pregnancy has been ruled out in those patients who have been sexually active. Clinical examination should follow, and should include:

• Evaluating the presence or absence of secondary sexual characteristics;
• Examining for features consistent with Turner’s syndrome, such as webbed neck, short stature, widely spaced nipples and scoliosis;
• Examining for features of polycyctic ovary syndrome, such as hirsutism, acne and weight gain;
• Assessing for features of androgen insufficiency, such as absence of axillary and pubic hair in the presence of normal development;
• Pelvic examination is not appropriate in patients presenting at a younger age who have not been sexually active, however may be of use in older patients to evaluate the presence or absence of a uterus. It may also reveal a transverse vaginal septum, imperforate hymen, or clitoromegaly (which may indicate virilisation if there is presence of an androgen-secreting tumour).

Following the history and physical examination, various biochemical and imaging investigations may be appropriate, the order of which depends on the clinical picture. These include:

• Pelvic ultrasonography (indicated if the presence or absence of a vagina and uterus cannot be determined by physical examination); The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.
• Follicle-stimulating hormone and luteinising hormone;
• Serum prolactin (after 48 hours if the breasts have been examined, as this may affect the result);
• Thyroid profile;
• Total testosterone (if features of androgen excess are present).

Interpretation of Investigations

• Pelvic Ultrasound: Pelvic ultrasonography will demonstrate presence or absence of a uterus. If the uterus is seen, and secondary sexual characteristics have developed, causes include outflow obstruction (which may be caused by an imperforate hymen or transverse vaginal septum) or polycystic ovarian syndrome. If the uterus is not seen, and secondary sexual characteristics have not developed, causes include Turner’s syndrome and gonadal agenesis. If the uterus is not seen or is abnormal on pelvic ultrasound, but there is presence of secondary sexual characteristics, this may indicate androgen insensitivity or Müllerian agenesis as the cause of the patient’s presentation (depending on karyotype).
• Serum Follicle-Stimulating Hormone and Luteinising Hormone: If there is absence of secondary sexual characteristics: The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.
• Serum follicle-stimulating hormone (FSH) and luteinising hormone (LH) should be obtained- If these levels are low (<5 IU per L), this indicates hypogonadotropic hypogonadism. – If these levels are high (FSH >20 IU per L and LH >40 IU per L), this is suggestive of hypergonadotropic hypogonadism and karyotype analysis is indicated – 46, XX suggests premature ovarian failure and 45, XO suggests Turner’s syndrome.
• Serum Prolactin Levels: High prolactin levels (>1000mIU/L) may indicate pituitary adenoma, hypothyroidism or medication use (in particular antipsychotics). This should be followed by prompt referral to an endocrinologist and magnetic resonance imaging may be indicated for further analysis. If the prolactin level lies between 500 and 1000, repeat sampling should be considered as, as mentioned above, recent breast examination can have an effect on the result. Persistent results of this level should warrant consideration of a pituitary adenoma. Other causes may be stress, medications (including antipsychotics, opiates and illicit drugs), renal or hepatic impairment, hypothyroidism and polycystic ovarian syndrome.
• Total Testosterone Levels: Elevated levels (>5. 0 nm/L) may indicate androgen insensitivity (particularly 46XY genontype, female phenotype), late-onset congenital adrenal hyperplasia, Cushing’s syndrome or an androgen-secreting tumour. Moderately elevated testosterone levels (usually between 2. 5 and 5 nm/L) may indicate polycystic ovarian syndrome. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.

Management

Treatment is ultimately directed at the underlying cause of the patient’s presentation with primary amenorrhoea, and will vary depending on the patient. Management should be initiated by referral to an appropriate specialty in secondary care, usually a gynaecologist, endocrinologist or geneticist, as well as offering counselling and psychological support if necessary. Referral to a secondary care specialist is usually indicated regardless of the patient’s age at presentation – it is generally appropriate to refer all patients who present with primary amenorrhoea to a gynaecologist. Endocrinology opinion should be sought for patients who have signs of hyperprolactinaemia, thyroid dysfunction or excess androgens.

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Lifestyle factors should be addressed if the patient’s presentation is likely due to weight loss, excessive exercise or stress.

Surgical management may be indicated for patients with anatomical abnormalities, such as an imperforate hymen, or those with prolactinoma or other pituitary tumour. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.

If the patient has hyperprolactinaemia confirmed, there is role for the use of dopamine agonists, which have been shown to re-establish normal ovulation and endocrine function.

Hormone replacement therapy is necessary to restore optimum bone density in patients with irreversible underlying pathology where normal endocrine function cannot be restored, particularly in those where oestrogen deficiency is evident.

Pulsatile gonadotropin releasing hormone therapy has been demonstrated to initiate ovulation in infertile patients with irreversible underlying pathology. The Evaluation Of A Patient Presenting With Primary Amenorrhoea Essay.