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Articles/Understanding Amenorrhea: Symptoms, Causes & Treatment

Understanding Amenorrhea: Symptoms, Causes & Treatment

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Dr Len Kliman Associate Professor
15 min mins read April 21st 2023
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Primary Amenorrhea

Primary amenorrhea is the absence of menses or periods by the age of 15. This implies that otherwise the female is developing normally and has what we call secondary sex characteristics such as breast development, pubic hair etc. If secondary sex characteristics are not beginning to develop by the age of 13, this may indicate that investigations to understand why should occur at that stage.

Causes of Primary Amenorrhea

The actual way the human body ovulates and then has a period is determined by an axis of organs releasing controlling hormones. There is a feedback mechanism to this axis where when a certain level of hormone is reached, it feeds back to the main controlling centre in the brain to control the actual level of hormone being produced by the ovaries. This production and feedback mechanism allows all women to control the amount of hormone within their body. As well as this controlling system, there is an actual structural or anatomical development which has allowed the uterus and vagina to develop in such a way that menstrual blood can flow freely to the outside from the uterine cavity.

There are therefore numerous causes of primary amenorrhea that need to be considered.

Constitutional Causes

There is a constitutional component to the commencement of periods. That is, constitutional delay may occur where your periods have not commenced purely because there is a normal variation in all biological events involving the human body. That is as part of a totally normal hormonal and anatomical female body, periods may start earlier or later than normal just as we may be taller or shorter than normal. It has also been shown that you need to have a certain percentage of body fat to allow you to have periods so females that are particularly thin and have a low body mass index may not cycle because of their lack of body fat.

Genetic Causes

There are genetic causes for not having periods, the commonest of these being Turner’s Syndrome which means that you are a female with one X instead of two X chromosomes. This syndrome results in the ovaries being much smaller than normal and failing to make the appropriate amounts of female hormone (ovarian dysgenesis). There are other genetic syndromes or groups of conditions that can be associated with lack of periods.

Hormonal Causes

Hormonal causes of primary amenorrhea may include small benign tumours on the pituitary gland which release excessive amounts of a hormone called prolactin which prevents your periods or polycystic ovary syndrome a syndrome due to an abnormality of the release of a hormone from the middle part of your brain called the hypothalamus (GnRH releasing hormone).

Anatomical Causes

Anatomical obstruction to the normal flow of blood. The uterus and vagina develop in the foetus from two ducts called the Mullerian ducts. Sometimes there is an abnormality in the way the formation of these ducts ultimately result in the structure of the uterus and the vagina. An extreme version of this is agenesis or absence of the uterus and there are lesser versions where sections of the system do not develop or septums or walls develop which prevent the blood from periods being visible on the outside. If the uterus is present, the other structural abnormalities can be surgically dealt with.

Diagnosis And Treatment Of Primary Amenorrhea

A simple examination where the height, weight and presence or absence of secondary sex characteristics are noted is important as well as the history concerning the general health and wellbeing of the female patient. It is important to measure all the necessary hormones present in the human body including the pituitary hormone prolactin, the steroid hormones produced by the adrenal gland (periods can stop from a rare genetic disease called congenital adrenal hyperplasia) and the rest of the female hormones that are produced by the ovaries.

The chromosomes of the patient also need to be ascertained and this can occur via a simple cheek saliva swab.

An abdominal scan can usually indicate the presence of a uterus and a vagina. Sometimes young girls need to be examined under anaesthetic to confirm that they are structurally and anatomically normal. This helps to exclude a genetic cause.

When no cause is found and there is the presence of normal secondary sex characteristics, then it may be a matter of just waiting longer to exclude a simple constitutional cause.

Treatment of Genetic Causes

The treatment involves excluding a genetic cause which may result in the absence of the ovaries to develop (ovarian dysgenesis) as we have mentioned above. The commonest cause of this is Turner Syndrome but there are other genetic causes. In this case, hormone replacement is important to allow for the usual ongoing development of secondary sex characteristics and oestrogen also serves to keep female skin and bones strong, is cardioprotective and is involved in the normal maturation and function of other organ systems. Fertility is obviously a problem as these ovaries do not produce eggs and other options such as donor eggs may need to be discussed.

Treatment of Hormonal Causes

Hormonal causes such as an elevated prolactin level from the pituitary gland or polycystic ovary syndrome or adrenal gland causes can all be treated using the appropriate hormonal manipulation or treatment.

Treatment of Structural Causes

Structural causes such as Mullerian duct abnormalities (that is the actual uterus and vagina do not develop normally) may be treated surgically to allow the normal outflow of menstrual blood. Agenesis or absence of the uterus is obviously a difficult problem and there have been a number of recent articles concerning uterine transplantation from a donor as a successful procedure.

Secondary Amenorrhea

Secondary amenorrhea usually implies the absence of periods for 6 months after having had a regular or occasionally an irregular menstrual cycle. There are numerous causes that need to be evaluated.

Causes Of Secondary Amenorrhea

The most common cause of secondary amenorrhea is pregnancy, which must always be considered and ruled out as a diagnosis. Other common causes include conditions that affect the control center in the brain, such as:

  • Stress
  • Significant weight gain or loss
  • Use of oral contraceptives or progesterone-releasing IUDs
  • Medications like antidepressants

These situations can disrupt the feedback loop that regulates the menstrual cycle, leading to the absence of periods.

There are also other medical causes that can result in cessation of periods, these include:

  • An underactive thyroid gland
  • Adrenal gland disease
  • Pituitary disease (characterized by elevated prolactin hormone levels)
  • Chronic medical conditions, particularly those associated with weight loss, such as inflammatory bowel disease, severe kidney disease, or heart disease

Certain autoimmune disorders can also cause cessation of periods due to immune system dysfunctions, which may have a genetic predisposition.

Polycystic ovary syndrome (PCOS) is another hormonal cause of secondary amenorrhea. It is caused by an abnormality in the hypothalamus (brain), resulting in abnormal release of the controlling hormone GnRH. This leads to failure to ovulate and disordered hormone release, including increased levels of male hormones, which may manifest as increased acne and facial hair.

Finally, menopause can also be a cause of secondary amenorrhea. When menopause occurs before the age of 40, it is called primary ovarian insufficiency. The symptoms are similar to those of menopause but may be more pronounced. It can be due to genetic reasons or considered as an autoimmune syndrome in some patients.

Diagnosing The Causes Of Secondary Amenorrhea

The causes of secondary amenorrhea can be diagnosed using hormone assays that measure female hormones, male hormones, pituitary hormones, adrenal hormones and can include genetic testing (karyotype) to exclude any genetic causes for the cessation of periods.

Treatment Of Secondary Amenorrhea

The treatment of secondary amenorrhea depends upon the actual cause and also whether or not the patient wishes to have a child.

If the patient does not have menopause or premature ovarian failure, then there are ways to manipulate the menstrual cycle to allow ovulation to occur and pregnancy therefore to occur. If the cause of secondary amenorrhea is menopause or premature ovarian failure, then fertility obviously is a more difficult question and may involve donor eggs. Premature ovarian failure or menopause depending on symptoms and other issues such as the cardioprotective and bone protective effects of oestrogen hormone may involve menopausal hormone therapy and the pros and cons of this therapy can be discussed on an individual basis. In general, the earlier you reach the menopause especially if you are under 40 and have premature ovarian insufficiency, hormone replacement therapy becomes more important and often crucial.

What You Need to Know

Whether it is primary or secondary amenorrhea, it is important to be sensitive and understanding with all female patients as these symptoms can be a cause of great distress and anxiety. It is important to let your patients know that the cause can always be determined and appropriate care is available.

The fundamental questions to ask include:

  • Does the patient have normal secondary sex characteristics?
  • What is the hormonal state or situation of this particular patient?
  • Is the patient genetically normal?
  • Is the patient anatomically normal?
  • Is the patient pregnant?
  • Has the patient entered the menopause and if so, have we considered and discussed the pros and cons of menopausal hormone therapy?
  • Does the patient desire to become pregnant in the future?
  • Have we fully explained all aspects of the patient’s condition to the patient and given the patient the information in writing as well so that she may consider the diagnosis and management at a later date?

    Associate Professor Len Kliman has a long history in helping woman who have primary or secondary amenorrhea in both achieving a diagnosis and discussing and implementing the most appropriate treatment and management for women on an individual basis.