Achard-Thiers syndrome, also referred to as “diabetic bearded women syndrome”, is a condition characterised by excessive hair growth (hirsutism) and diabetes in postmenopausal individuals assigned female at birth (AFAB). It is a rare under-researched condition, which explains the lack of information in identifying and describing clinical symptoms. Moreover, the risk factors and ultimate cause of the disorder remains unknown. Achard-Thiers syndrome is a part of the wider spectrum of metabolic diseases, which are complex and multi-faceted, therefore understanding the clinical features of the disorder is important to avoid misdiagnosis. 

Overview 

Achard-Thiers was first described in 1921 by two French doctors: Dr Emile Charles Achard and Joseph Thiers. The alternative naming of diabetic bearded women syndrome is due to its two defining characteristics of causing excess hair and the presentation of type 2 diabetes. The syndrome is very rare and under researched, resulting in the exact incidence of disease being unknown, although one study notes a prevalence of 0.33% of Achard-Thiers within a population of diabetic people  AFAB.¹

The route cause and initial triggering of this syndrome is not known either, but several of the underlying mechanisms of disease have been established.

Underlying mechanisms of Achard-Thiers syndrome

There are two mechanisms that are affected in this disorder, including:

• Hormonal pathways 
• Metabolic pathways

Hormonal pathways 

A characteristic of Achard-Thiers syndrome is hyperandrogenism, which refers to high levels of androgens within the body. Androgens are a group of sex hormones, with the most abundant and primary androgen being testosterone. Testosterone has a role in both individuals assigned male at birth (AMAB) and AFAB which aids in the triggering of puberty for both sexes. 

Individuals AMAB have higher levels of the hormone, allowing the regulation of AMAB characteristics of the body such as hair, muscle growth and testes formation. In individuals AFAB, testosterone is present at lower levels and balanced with the hormones (oestrogen and progesterone). It has involvement in reproductive changes and growth. Androgens are secreted by the sex organs and in smaller quantities by the adrenal gland. The overproduction and high levels of testosterone in AFAB can result in presentation of these primarily AMAB characteristics (virilization) such as increased face and body hair, changes in muscle mass and dysregulated menstrual cycle.

Metabolic pathways 

Type 2 diabetes is the other clinical characteristic of Achard-Thiers syndrome. Diabetes describes the condition of high levels of glucose (sugar) within the bloodstream, referred to as hyperglycemia. In normal circumstances, glucose levels are tightly controlled by a variety of pancreatic secreted hormones, including insulin. Insulin’s role is to signal to the body when blood glucose levels are too high, and the body needs to start using it for energy, or storing it away for later. 

Diabetes can be defined as Type 1 and Type 2:

• Type 1: A lifelong immune disorder where the body starts attacking its own cells that produce insulin, resulting in little to no insulin production 
• Type 2: A reduction in insulin production or body becomes resistant to the effects of insulin 

When the body becomes insulin resistant and the body is still hyperglycemic, it can often lead to hyperinsulinemia, which is high levels of insulin in the blood. This is due to the pancreas overcompensating to produce more insulin as it can detect the blood glucose levels is still high, but insulin resistance stops the insulin from working at normal safe levels.

Chronic hyperglycemia and hyperinsulinemia can lead to a number of dangerous complications, including:

• Nerve damage 
• Vision problems or loss
• Hardening of the arteries 
• High blood pressure  
• Diabetic ketoacidosis 

Often individuals AFAB with Achard-Thiers syndrome will be diagnosed with polycystic ovary syndrome (PCOS) earlier in life, in adulthood or even adolescence. Hyperandrogenism and insulin resistance are prominent features of both disorders, which present with similar symptoms. 

Clinical features 

Achard-Thiers syndrome is a combination of androgen overproduction and type 2 diabetes, therefore it is important to consider these factors and the symptoms of the disorder can be linked to either one of the mechanisms.

Symptoms caused by diabetes (insulin-resistance) 

• Increased urination
• Feelings of extreme thirst 
• Increased hunger
• Fatigue 
• Blurred vision
• Urinary tract infections 
• Weight loss 

Symptoms caused by hyperandrogenism

• Excess body hair (hirsutism) 
• Discolouration of skin (acanthosis nigricans) 
• Exaggerated male characteristics (virilization) - deepened voice, muscle growth, baldness
• Acne
• Obesity 
• High blood pressure 
• Irregular menstruation 
• Infertility² 

The symptoms in individuals with Achard-Thiers syndrome is varied, however medical diagnosis requires the presence of type 2 diabetes and excessive body and facial hair growth, says expert pharmacologist Dr Hina Firdous. 

Metabolic diseases are often broad and complex, for example, diabetes can be indicative of a variety of different disorders, therefore it is important to have a thorough and complete diagnostic process.

Diagnostic criteria 

With the confirmation of type 2 diabetes and hyperandrogenism through these tests, in addition to the physical characteristics of excess body/facial hair in post-menopausal individuals AFAB, a diagnosis of Achard-Thiers can be made.

Treatment 

Anti-androgens

Medications can be used to block the production or the effects that the excess androgens have on the body. 

Spironolactone 

Spironolactone is used to stop the production of a specific enzyme used in the production of testosterone. This helps reduce the total testosterone level present in the body. The most common use for this drug is as a treatment for hirsutism, with successes in as high as 95% of patients.⁵

Gonadotropin-releasing hormone (GnRH) agonist 

A GnRH agonist is used to downregulate the production of androgens by disrupting their signalling mechanism. This allows the decrease of testosterone within the body.⁶

This drug has seen success in individuals AFAB with hyperandrogenism by overproduction in their ovaries, with evidence of improvement in virilization symptoms.⁷

Anti-diabetics

Metformin 

Metformin has been used for both type 2 diabetes and endocrine disorders such as PCOS. This is due to its success in lowering blood-glucose levels, reducing insulin resistance and depletions in androgen production.⁸ 

Metformin has several complex methods in treating these disorders, but one of the most important is its inhibition of gluconeogenesis. The blocking of glucose production helps the body maintain a safe blood-glucose range. In addition, it has actions in increasing sensitivity to insulin, again allowing the body to utilise glucose in the muscle for use and signalling to reduce more glucose production. 

Lifestyle changes 

Type 2 diabetes that presents with minimal symptoms can sometimes be treated without medications. This may involve changes to lifestyle that are essential to your health. This includes:

• Lower fat, sugar and salt intake 
• Having a healthy balanced breakfast avoids dips in blood sugar
• Preparing your meals allows planning of nutritional information to control intake
• Reducing alcohol intake as they are often high in sugar 
• Daily exercise, typically 30 minutes a day 
• Losing weight 
• Stop smoking 

Stress management 

Stress has a negative effect on anyone’s body, but since diabetes can increase risks of other cardiovascular problems, it is important to keep stress in check. This can be managed by yoga, meditation and allowing yourself to take time away from stressful situations and allow relaxation.

Cosmetic changes

Some individuals AFAB may choose to treat only their symptoms, especially if they are milder, by either regular shaving, bleaching and waxing to remove excess hair or additional skincare treatments to maintain acne.

Summary

Achard-Thiers syndrome presents a unique combination of symptoms affecting post-menopausal individuals AFAB. Being able to recognise these metabolic features such as diabetes and signs of hyperandrogenism in the form of hirsutism, a quick and accurate diagnosis can be concluded. Effective treatment and lifestyle changes can have a big impact on patient health and well-being, with strategies allowing the condition to become more manageable. Due to the rarity of the disorder, continued research and awareness is necessary, to keep patients informed and increase the quality of care they can receive.