Polycystic ovarian syndrome (PCOS) – Better Health Channel

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Summary

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• Polycystic ovary syndrome (PCOS) is a complex hormonal condition. 
• PCOS can be associated with problems such as irregular menstrual cycles, excessive facial and body hair growth, acne, obesity, reduced fertility and increased risk of diabetes.
• PCOS can be diagnosed by taking a medical history, examination, blood tests and an ultrasound.
• Treatment for PCOS includes a healthy lifestyle, weight loss if overweight, and targeted therapy such as hormones and medication.   

What is polycystic ovary syndrome (PCOS)?

Polycystic ovary syndrome (or polycystic ovarian syndrome – PCOS) is a complex hormonal condition. ‘Polycystic’ literally translates as ‘many cysts’. This refers to the many partially formed follicles on the ovaries, which each contain an egg. These rarely grow to maturity or produce eggs that can be fertilised.

Women with PCOS commonly have high levels of insulin that don’t work effectively, or male hormones known as ‘androgens’, or both. The cause is not fully understood, however family history and genetics, hormones and lifestyle play a role. Insulin resistance is present in up to four out of five women with PCOS.

Women who have a mother, aunt or sister with PCOS are 50 per cent more likely to develop PCOS. The condition is also more common in women of Asian, Aboriginal and Torres Strait Islander and African backgrounds.

PCOS is relatively common, especially in infertile women. It affects 8 to 13 per cent of women of reproductive age (between late adolescence and menopause). Almost 70 per cent of these cases remain undiagnosed.

Up to a third of women may have polycystic ovaries seen on an ultrasound, but they don’t all have PCOS. To be diagnosed with PCOS, women need to have two out of three of the following:

1. irregular or absent periods
2. acne, excess facial or body hair growth, scalp hair loss or high levels of androgens (testosterone and similar hormones) in the blood.
3. polycystic ovaries (many small cysts on the ovaries) visible on an ultrasound.

You don’t need an ultrasound if you have 1 and 2. For women aged under 20, ultrasounds are not recommended, which means 1 and 2 must be present for a diagnosis of PCOS.

Symptoms of PCOS

Women who have PCOS may experience:

• irregular menstrual cycles – periods may be less or more frequent due to less frequent ovulation (release of an egg)
• amenorrhoea (no periods) – some women with PCOS do not menstruate, in some cases for many years
• excessive facial or body hair growth (or both)
• acne
• scalp hair loss
• reduced fertility (difficulty in becoming pregnant) – related to less frequent or absent ovulation
• mood changes – including anxiety and depression
• obesity
• sleep apnoea.

You don’t have to have all of these symptoms to have PCOS.

Treatment of PCOS

It is important that all the symptoms of PCOS are dealt with and managed long-term, to avoid associated health problems. PCOS is a long-term condition and long-term management is needed.

Depending on the symptoms you experience, management of PCOS can include:

• lifestyle modifications – increasing your physical activity levels and eating a healthy diet can help to manage PCOS
• weight reduction if overweight – research has shown that even five to 10 per cent weight loss can provide significant health benefits
• medical treatment – with hormones or medications.

Lifestyle modifications

Lifestyle changes – such as eating a healthy, balanced diet and introducing regular physical activity into your routine – can have a positive effect on your health in many ways. For women who have PCOS, a healthy lifestyle can improve symptoms, particularly if you are overweight and your new lifestyle helps you to lose weight.

Weight reduction

You don’t even have to lose much weight to feel the benefit. Studies suggest that, if overweight, just five to 10 per cent weight loss can:

• restore normal hormone production – which can help regulate periods and improve fertility
• improve mood
• reduce symptoms such as:
  • facial and body hair growth
  • scalp hair loss
  • acne.

It can also reduce your risk of developing type 2 diabetes and cardiovascular disease.

Medical treatments for PCOS

Medical treatments for PCOS treatments include:

• the oral contraceptive pill – this is often prescribed for contraception, to regulate the menstrual cycle, reduce excess hair growth and acne and prevent the lining of the womb from excessive thickening
• medication to block hormones such as testosterone (for example, spironolactone) – these may be used to reduce excess hair growth or scalp hair loss
• insulin sensitising medications – these will help people who have insulin resistance, and may be useful for regulating menstrual cycles, improving ovulation (egg production) and fertility, avoiding progression to diabetes, and may assist with weight loss
• infertility medications – if infertility is a problem, clomiphene citrate (sold as Clomid), or aromatase inhibitors may be taken orally to bring about ovulation (egg production)
• psychological counselling.

Your GP and specialists can discuss possible treatments with you to help you decide what treatment best suits you.

Your PCOS management team

A team of health professionals working together with a multidisciplinary approach, is the best way to manage and treat PCOS. A healthcare team to help manage PCOS may include:

• your GP
• an endocrinologist (hormone specialist)
• a gynaecologist (for fertility or bleeding issues)
• a dietitian
• an exercise physiologist or physiotherapist
• a psychologist.

Long-term health risks of PCOS

PCOS is associated with the following long-term health risks:

• insulin resistance
• increased risk of the development of diabetes, especially if women are overweight
• cholesterol and blood fat abnormalities
• cardiovascular disease (heart disease, heart attack and stroke)
• endometrial cancer (if there is long-standing thickening of the lining of the womb).

Diagnosis of PCOS

Diagnosis of PCOS is likely to involve:

• your medical history
• an examination
• tests to measure hormone levels in the blood
• other tests when necessary, such as a pelvic ultrasound.

Early diagnosis is important to manage symptoms and may prevent long-term health problems such as diabetes from developing.

Where to get help

• Your doctor (GP)
• Gynaecologist
• Endocrinologist
• Local women’s health clinic
• Community health centre
• Jean Hailes for Women’s HealthExternal Link 1800 JEAN HAILES (532 642)
• Dietitian
• Exercise physiologist

• Shorakae S, Boyle J and Teede H 2014. ‘Polycystic ovary syndrome: a common hormonal condition with major metabolic sequelae that physicians should know aboutExternal Link’, Internal Medicine Journal, vol. 44, no. 8, pp 720–726.
• Melo AS, Ferriani RA, Navarro PA 2015 ‘Treatment of infertility in women with polycystic ovary syndrome: approach to clinical practiceExternal Link’, Clinics, vol. 70, no. 11, pp. 765–769.
• Neven ACH, Laven J, Teede HJ, Boyle JA 2018 ‘A summary on polycystic ovary syndrome: diagnostic criteria, prevalence, clinical manifestations, and management according to the latest international guidelinesExternal Link’, Seminars in Reproductive Medicine, vol. 36, no. 1, pp. 5–12.
• McCartney CR and Marshall JC 2016 ‘Clinical practice: polycystic ovary syndromeExternal Link’, New England Journal of Medicine, vol. 375, no. 1, pp. 54–64.
• Teede H, Misso M, Costello M et al. 2018, International evidence-based guideline for the assessment and management of polycystic ovary syndrome 2018External Link, Monash University, Australia.

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Content disclaimer

Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. The information and materials contained on this website are not intended to constitute a comprehensive guide concerning all aspects of the therapy, product or treatment described on the website. All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions and to ascertain whether the particular therapy, service, product or treatment described on the website is suitable in their circumstances. The State of Victoria and the Department of Health shall not bear any liability for reliance by any user on the materials contained on this website.

Reviewed on: 25-11-2019

Turner’s syndrome – Better Health Channel

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Summary

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• Turner’s syndrome is a random genetic disorder that affects women.
• Usually, a woman has two X chromosomes. However, in women with Turner’s syndrome, one of these chromosomes is absent or abnormal.
• With appropriate medical treatment and support, a girl or woman with Turner’s syndrome can lead a normal, healthy and productive life.
• Treatment aims to correct any physical defects and help bring about puberty.

Turner’s syndrome is a random genetic disorder that affects females. The main characteristics include short stature and infertility. Usually, a female has two X chromosomes. However, in females with Turner’s syndrome, one of these chromosomes is missing or abnormal. The missing genes cause the abnormalities and features found in women with Turner’s syndrome. Other names for Turner’s syndrome include monosomy X, 45X and Ullrich-Turner syndrome.

The effects and severity of the condition vary widely, depending on the degree of chromosomal abnormality. Turner’s syndrome affects approximately one in 2,000 female babies born. However, the occurrence of this abnormality before birth may mean it is more common than generally thought. It has been estimated that only one per cent of fetuses with this abnormality survive to term and as many as 10 per cent of miscarriages have this chromosomal abnormality.

Diagnosis of Turner’s syndrome

The condition may be diagnosed at various life stages including:

• before birth (prenatally) – usually if an amniocentesis has been performed or abnormalities are seen during an ultrasound
• at birth – due to certain physical features
• in childhood – when the young girl doesn’t grow at a similar rate to her peers
• during the teenage years – when puberty fails to arrive
• in adulthood – during investigations for infertility.

Turner’s syndrome is diagnosed using a number of tests including:

• amniocentesis and chorionic villus sampling (before birth)
• clinical history
• physical examination
• psychological and educational assessment
• blood tests and chromosome analysis
• genetic tests.

Symptoms of Turner’s syndrome

The most significant features of Turner’s syndrome include:

• short stature – average adult height is 143 cm (4’ 8”)
• infertility – due to underdeveloped ovaries
• congenital heart defects – in about 50 per cent of affected women
• spatial awareness issues – problems with tasks such as maths
• absence of menstruation (amenorrhoea)
• hearing problems.

Less significant features may include:

• sunken, wide chest with broadly spaced nipples
• extra skin (‘webbing’) on the neck
• puffy hands and feet
• inability to straighten the elbow joints
• pigmented moles
• soft upturned nails
• low hairline.

The cause of Turner’s syndrome

Genes are the blueprint for our bodies, governing factors such as growth, development and functioning. Humans have 46 paired chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors. Our estimated 30,000 genes are beaded along these tightly bundled strands.

Usually, a female has two X chromosomes. However, in females with Turner’s syndrome, one of these chromosomes is absent or abnormal. For example, one of the ‘arms’ of the affected chromosome might be missing, or the affected chromosome could have an unusual shape. The missing genes cause the range of anomalies and symptoms associated with this condition. The direct link between the missing genes and the particular problems is not yet well understood.

Complications of Turner’s syndrome

Some of the medical complications that may need to be considered include:

• Congenital heart defect – the various structures of the heart may fail to develop normally in utero. While some of these correct themselves, others need surgery.
• Hearing problems – women with Turner’s syndrome may have some deafness caused by childhood ear infections. They may also develop nerve deafness caused by degeneration in the hearing nerves.
• Middle ear infection (otitis media) – girls with Turner’s syndrome are more vulnerable to ear infections because their ear tubes are narrower than normal.
• High blood pressure (hypertension) – this occurs more commonly in teenage and adult women with Turner’s syndrome. It may be caused by a narrowing (coarctation) of the aorta (a major artery), which can be surgically repaired. However, often a reason for the increased pressure can’t be found.
• Kidneys – an ultrasound may show some structural abnormalities in the kidneys, but these differences don’t usually affect how well the kidneys work.
• Thyroid function and diabetes – there is a higher rate of type II diabetes and thyroid gland disorders in women with Turner’s syndrome.

Premature menopause and Turner’s syndrome

Since the X chromosomes dictate female physical characteristics, missing genes interfere with sexual development. Infertility is caused by the failure of the ovaries to grow properly – they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after. Only around five to 10 per cent of girls with Turner’s syndrome menstruate naturally and the rest need hormone replacement therapy.

Turner’s syndrome is a lifelong condition. However, many treatment options are available to help affected girls and women reach their potential in all aspects of life. Treatment aims to correct any physical defects and help bring about puberty. Options include:

• surgery to correct any heart defects
• growth hormone therapy to increase height
• hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts
• regular monitoring to check hormone levels
• regular follow-up and management of medical conditions
• treatment for the management of complications such as high blood pressure
• assisted reproduction.

Where to get help

• Your doctor
• Turner Syndrome Association of Australia Tel. (07) 3298 6635
• Royal Children’s Hospital, Department of Endocrinology Tel. (03) 9345 5951
• Genetic Support Network Vic Tel. (03) 8341 6315
• Monash Medical Centre Tel. (03) 9594 6666
• Royal Women’s Hospital Tel. (03) 8345 2000

Things to remember

• Turner’s syndrome is a random genetic disorder that affects women.
• Usually, a woman has two X chromosomes. However, in women with Turner’s syndrome, one of these chromosomes is absent or abnormal.
• With appropriate medical treatment and support, a girl or woman with Turner’s syndrome can lead a normal, healthy and productive life.
• Treatment aims to correct any physical defects and help bring about puberty.

• ‘Sex Chromosomal abnormalities’, The Merck Manual of Diagnosis and Therapy, eds Berkow R, Beers M, Fletcher A, Bogin R, Merck & Co., Inc., NJ, USA. More information here.External Link

This page has been produced in consultation with and approved
by:

This page has been produced in consultation with and approved
by:

Give feedback about this page

Was this page helpful?

More information

Content disclaimer

Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. The information and materials contained on this website are not intended to constitute a comprehensive guide concerning all aspects of the therapy, product or treatment described on the website. All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions and to ascertain whether the particular therapy, service, product or treatment described on the website is suitable in their circumstances. The State of Victoria and the Department of Health shall not bear any liability for reliance by any user on the materials contained on this website.

Reviewed on: 30-09-2014

Amenorrhea (absence of menstruation) – PCMC medical blog article

Amenorrhea is the absence of menstruation or the omission of at least one menstrual period. This includes cases in which girls did not start menstruating by the age of 15, as well as women who, after a normal menstrual cycle, missed at least three periods in a row.

Women may be more at risk of amenorrhea if they have a family history, if they have an eating disorder, or if they participate in weightlifting. Approximately 3-4% of women during their lifetime may suffer from amenorrhea for other reasons.

Symptoms and complications of amenorrhea

A clear symptom of amenorrhea is missed menstruation. However, according to recent studies, other symptoms may occur depending on the cause of amenorrhea. These may include:

• Acne.
• Excess facial hair.
• Pain in the pelvic region.
• Headache.
• Milky discharge from the nipples.
• Hair loss.
• Vision changes.

It’s important to see a gynecologist if you haven’t started your period by age 15, or if a woman has missed at least three periods in a row.

What causes amenorrhea?

Of course, pregnancy is the most obvious cause of amenorrhea, however, this condition can be a side effect of certain medications or indicative of other medical problems. Women need to see a doctor as soon as possible to understand the cause of the problem and determine the course of treatment.

Women using birth control pills, patches, or injections may have irregular periods even after they stop taking them. Some intrauterine devices also interfere with normal menstruation. Other types of medications can cause periods to stop or be irregular, including some forms of medications:

• Allergy medicines.
• Antidepressants.
• Antipsychotics.
• Blood pressure drugs.
• Chemotherapy for cancer.

There are some lifestyle factors that can lead to amenorrhea. These include:

• Body weight below 10% of normal weight. Being underweight disrupts the normal functioning of hormones, which can lead to the cessation of ovulation and menstruation. For this reason, women with eating disorders often suffer from amenorrhea.
• Great physical activity. Women who engage in strenuous exercise and training, even dancing, may have irregular or absent periods. Doctors believe that the combination of high energy expenditure, low body fat, and stress contributes to amenorrhea in female athletes.
• Stress. Stress affects the hypothalamus, the part of the brain that controls the hormones that regulate the menstrual cycle. When stress is reduced, the menstrual cycle often returns to normal.
• Medical problems can also cause amenorrhea.

Some potential medical causes include:

• Premature menopause, or menopause before age 50.
• Thyroid problems, including hyperthyroidism (overactive thyroid) and hypothyroidism (underactive thyroid), affecting other hormones in the body.
• Polycystic ovary syndrome resulting in persistently high hormone levels instead of the normal, cyclical hormone levels seen with normal menstrual cycles.

There are other causes of amenorrhea that your gynecologist can identify through diagnostics and tests.

What is the difference between primary amenorrhea and secondary amenorrhea?

Amenorrhea is of two types.

Primary amenorrhea.

Absence of menstruation by the age of 15. This usually happens for one of two main reasons:

• Chromosomal or genetic abnormalities that cause the ovaries to stop working properly.
• Problems with the pituitary or hypothalamus in the brain, leading to an imbalance of hormones.

Very rarely, physical problems are to blame for amenorrhea. Absence of reproductive organs or blockage of internal passages can cause primary amenorrhea.

Secondary amenorrhea

Doctors describe secondary amenorrhea as when a woman misses at least three periods in a row after at least six months of a normal cycle. As mentioned above, the cause of secondary amenorrhea in women can be many reasons.

Diagnosis and treatment of amenorrhea

First of all, the doctor determines the cause of amenorrhea in order to select the appropriate treatment regimen. Amenorrhea caused by hormonal, thyroid or pituitary problems can be treated with conservative therapy, in case of structural problems such as scar tissue in the uterus or tumors, surgery may be required. If the doctor determines that lifestyle factors such as stress, exercise, or diet are causing the amenorrhea, the doctor will make individualized recommendations.

Gynecologists advise women to monitor their menstrual cycles as well as any symptoms and concerns. Women should immediately contact a gynecologist if they do not have a period or have other signs, symptoms, health problems. Amenorrhea can be a complex disease related to hormones, lifestyle, and physical problems. Figuring out the cause can take time and require several different tests.

The doctor may order laboratory tests, almost always starting with a pregnancy test, as this is the main cause of amenorrhea. If the doctor rules out pregnancy, other tests may be ordered, such as hormonal tests, a pelvic exam, or other tests.

Causes of absence of menses (amenorrhea) | SMT Clinic Yekaterinburg. Multidisciplinary Medical Center

Amenorrhea (absence of menstruation) is diagnosed if there is no menstruation within 6 months or more . But it is already necessary to talk about menstrual irregularities if its duration is more than 35 days, or no more than 9 menstruations in the year (oligomenorrhea).

Pathology starts on the background of stress, excessive physical exertion, rapid weight loss. Often, the absence of menstruation is associated with endocrine disorders, which is associated with common triggers (stress, malnutrition, changes in metabolic processes).

If it’s stress, don’t you need a gynecologist?

The psychogenic factor is one of the possible, but far from the only one.

It should also be understood that stress and metabolic disorders are a pathological condition that requires comprehensive support from a gynecologist and endocrinologist.

To normalize the condition, drug therapy and a change in the patient’s lifestyle will be required. Even assuming that the lack of menstruation has a psychogenic connotation, make an appointment with a gynecologist.

About other causes of amenorrhea

In young girls, gonadal dysgenesis, the absence of functional ovaries that cause puberty, can be the cause of the pathology.

If menstrual irregularities occur already in childbearing age, polycystic ovary syndrome (PCOS) cannot be ruled out. Every 15th woman suffers from it.

PCOS is initially diagnosed by ultrasound. A symptom is the presence of follicular neoplasms in the ovaries. The nature of PCOS is purely endocrine.

Menstrual disorders are not the only symptom of the syndrome. You should also pay attention to increased hairiness, greasiness and skin rashes.

Often, when diagnosing patients with PCOS, hypothalamic dysfunction of gonadotropin-releasing hormone (GnRH) secretion is diagnosed. Recall that GnRH triggers the production of sex hormones and makes the very fact of conception possible.

Also, oligomenorrhea and amenorrhea can be caused by congenital adrenal hyperplasia (CHAH), adrenal insufficiency, hypercortisolism, tumors, thyroid dysfunction, and other endocrine disorders.

Risks of pathology

An untimely visit to a gynecologist can result in loss of childbearing functions.

Let us once again pay attention to the possible endocrine nature of the pathology. Any neglected disorders of the endocrine system lead to general disruption of the visceral system, weight gain, and a decrease in the quality of life.

Make an appointment with your gynecologist if you have irregular periods.

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