Overview

Achard-Thiers syndrome is a rare disorder affecting postmenopausal individuals, who are assigned female at birth (AFAB). It is primarily characterised by the appearance of extra facial hair growth, caused by hormonal imbalances.¹

The symptoms of Achard-Thiers syndrome have some overlap with the presentation of Cushing’s syndrome and type II diabetes mellitus. Further links to insulin resistance and polycystic ovary syndrome (PCOS) have been established.²

This article will explore the links between obesity and metabolic dysfunction in the Achard-Thiers syndrome. 

Achard-thiers syndrome

The endocrine system is responsible for the production and release of hormones. These are chemical messengers that act on bodily targets to exert an effect. Glands are small organs that make these substances.

People with Achard-Thiers syndrome grow excessive hair as their bodies produce a higher amount of androgens, which contribute to puberty in people assigned to male at birth (AMAB) individuals. This can appear on the back, chest and face, but pattern baldness (for example a receding hairline) can occur. The stress hormone cortisol is also known to be produced on a larger scale in Achard-Thiers syndrome.³

The exact causes of this condition are still unknown, but studies argue that diabetes mellitus plays a bigger role in its onset. Genetic factors may also contribute to Achard-Thiers syndrome. 

Clinical features

The clinical features of Achard-Thiers syndrome include¹:

• Excessive hair growth
• Development of a deep voice or pattern baldness (virilisation)
• Irregular periods, or the lack of a period in AFAB individuals
• Diabetes mellitus
• Weight gain or obesity
• High blood pressure

Some symptoms of Achard-Thiers syndrome overlap with Cushing’s syndrome, which is caused by a high level of cortisol.

Obesity in achard-thiers syndrome

Prevalence and characteristics

Obesity may be highly prevalent in people with Achard-Thiers syndrome due to insulin resistance. Insulin is the hormone that lowers your blood sugar after eating. 

When our organs don’t respond to insulin, sugar remains in the blood instead of being used for energy. High blood sugar (hyperglycaemia) leads to diabetes, which in turn has a strong relationship with obesity. Currently, 90% of adults with type II diabetes are also overweight.⁴

The distribution of fat in Achard-Thiers syndrome follows certain characteristics, such as:

• Central obesity – a round midsection, with slim arms and legs
• Weight on the sides of the face (moon face)
• Fat around the back and neck, known as a buffalo hump

Contributing factors

Factors that contribute to obesity in Achard-Thiers syndrome revolve around endocrine disruption. Insulin resistance results in the inability to properly uptake glucose from your tissues and cells, leading to a buildup of sugar in the blood. Eventually, sugar that is not burned by the body is converted to fat as your body’s way of storing energy for later. This can lead to complications that arise from excess weight.

Impact on health

Weight gain can have a variety of negative health impacts, such as:

• Increased risk of heart disease
• Higher cancer risk
• Type II diabetes
• Reduced lifespan
• Sleep apnoea
• Quality of life complications
• Decrease in physical mobility

Fortunately, there are measures to prevent excessive weight gain and promote better health.

Metabolic syndrome in achard-thiers syndrome

Metabolic syndrome is the name for a group of conditions that heighten your risk for type II diabetes, and other cardiovascular diseases. It is distinguished from metabolic disorders, which are rare, inherited diseases. 

Insulin resistance and metabolic syndrome are highly linked. You may find out you have metabolic syndrome following a blood test, showing high blood sugar. There can be no symptoms, which means that people may have it undetected for years. 

Key diagnostic criteria for metabolic syndrome include:⁴

• Central obesity, (waist circumference over 94 cm in AMAB individuals and over 80 in AFAB individuals)
• Obesity
• High blood sugar
• High blood pressure
• Abnormal fat levels in the bloodstream (dyslipidemia)

The diagnosis of metabolic syndrome requires insulin resistance as a prerequisite.

Association with achard-thiers syndrome

Endocrine abnormalities, such as excess cortisol may lead to type II diabetes. When we are under stress, we produce more cortisol, which might lower insulin sensitivity.⁵ 

Polycystic ovary syndrome (PCOS) is another type of androgen-excess disorder that is exacerbated by insulin.⁶ 

Higher levels of androgen lead to the presentation of features that are more associated with AMAB individuals. 

Consequences of metabolic syndrome

Outcomes of metabolic syndrome include a higher risk of cardiovascular diseases, including:

• Coronary heart disease (CHD) 
• Heart attack
• Stroke
• Potential for liver diseases, such as non-alcoholic fatty liver disease (NAFLD)

As these conditions can be dangerous, it is important to avoid a lifestyle that contributes to high blood sugar and the onset of metabolic syndrome. 

Diagnostic approaches

Clinical assessment

Achard-Thiers syndrome is evaluated by looking at physical signs, such as:

• Stretch marks (striae)
• Obesity, especially around the waistline
• Excessive hair growth
• Dark, velvety patches of skin (acanthosis nigricans)

A physician may also look for a history of hypercortisolism (Cushing’s syndrome) and androgen excess. They may ask if you bruise easily, have muscle weakness and have irregular menstruation in addition to these symptoms.

Laboratory tests

Tests that can be carried out to investigate Achard-Thiers syndrome include hormonal assays, which examine levels of cortisol, adrenocorticotropic hormone (ACTH) and androgens in the blood.¹

ACTH is associated with Cushing’s syndrome, and androgens and cortisol are compared against a reference range to see if they are in excess.

Blood testing for glucose and insulin levels may be carried out, as well as a lipid profile.

Imaging and specialised tests

Imaging studies such as CT or MRI scans can identify adrenal or pituitary anomalies. These are the glands that regulate androgen and cortisol production, respectively. They allow you to view the appearance of the glands, and see if they are enlarged or exhibit tumour growth.

Diabetes is assessed with the oral glucose tolerance test (OGTT), which measures how well sugar is handled by your body. 

The HbA1c test measures how much sugar is attached to the haemoglobin in your blood, which is the oxygen-carrying component.

Management strategies

Medical treatment

• Medications that can be used to manage hypercortisolism work by inhibiting the production of steroid hormones. Ketoconazole is currently in use for the treatment of Cushing’s syndrome and may be prescribed in the case of Achard-Thiers syndrome⁸
• Symptoms of androgen excess can be managed by the use of acne medication⁹

For metabolic syndrome, insulin sensitisers and antihypertensives can be used to increase reactivity to insulin as well as decrease blood pressure. The most commonly used insulin sensitiser is metformin. 

• First-line antihypertensive drugs include thiazide-type diuretics, calcium channel blockers and angiotensin-converting enzyme (ACE) inhibitors, as well as angiotensin II receptor blockers (ARBs).

Lifestyle modifications

Dietary changes can be implemented to reduce obesity and improve metabolic health. Eating a varied, balanced diet can diversify the gut microbiome as well as ensure your body gets the correct nutrients it needs.

Regular physical activity can also enhance insulin sensitivity and reduce the risk of cardiovascular disease. The NHS provides detailed physical activity guidelines for people of any age and gender.

Surgical options

If a tumour is found on the adrenal or pituitary glands, surgery can be carried out to remove it and reduce the risk of it spreading to other parts of the body. This may also alleviate excess hormone production. 

In severe cases of obesity, bariatric surgery can be an option. It reduces the size of the stomach, which can make someone feel full sooner. It must be supplemented by regular check-ins and a commitment to healthy lifestyle choices. 

Monitoring and follow-up

To monitor Achard-Thiers syndrome after diagnosis and treatment, metabolic parameters and hormone levels may still be checked to ensure that they are within a normal range. This might include repeated blood and hormone tests.

In the long-term, any complications that arise from medication or surgery can be acted on using suitable adjustments.

Prognosis and complications

Long-term outlook

Achard-Thiers syndrome is a chronic condition that may not entirely go away following treatment. However, it is possible for individuals affected to live healthy and normal lives. The symptoms of the disease may be alleviated with proper management of metabolic syndrome, and avoiding the development of diabetes.

Complications

Untreated metabolic syndrome can lead to severe health complications, which can be fatal. Furthermore, psychological impacts can be considered as a result of undesired physical changes to appearance and voice. Those with excess body hair as a result of this condition have many options available to them for hair removal. As a chronic disease, it may also have a negative impact on relationships and quality of life. 

Though there are no specialist charities for Achard-Thiers syndrome patients, support for those with rare diseases is provided by the National Organisation for Rare Disorders. They have a resource library to learn more about the condition, as well as a call centre which offers helplines for individuals who might have Achard-Thiers syndrome, or know someone with it. 

As a rare disease, it may be difficult for patients with the condition to reach out and find help for themselves. Newer research must be done to provide further insight into the inheritance of Achard-Thiers syndrome, as well as find links between other conditions like PCOS. These will help us understand the relationship hormones have with our body and how it changes. 

Summary

Management of Achard-Thiers syndrome revolves around hormonal treatment, as well as lifestyle changes that prevent the onset of diabetes mellitus. Though it might have some genetic aspects, there are actions you can take to reduce the development of metabolic syndrome resulting in severe health complications.