Achard Thiers syndrome is an extremely rare endocrine disorder characterized by hyperandrogenism and hyperinsulinemia. It is primarily seen in postmenopausal women and was initially described as "diabetes mellitus in bearded women", reflecting the excess androgen manifesting as hirsutism. Additional symptoms include polyuria, polydipsia, weight loss, and menstrual irregularities - oligomenorrhea and amenorrhea. The diagnosis rests on a thorough clinical and biochemical assessment. The oral glucose tolerance test (OGTT) and a hormonal workup are crucial for discriminating this syndrome from classical diabetes mellitus or other hormonal disorders.
Presentation
Described almost 100 years ago, Achard Thiers syndrome is now rarely mentioned in the literature, primarily because of its infrequent occurrence, underdiagnosis, and poor understanding of the pathogenesis [1] [2] [3] [4]. Some of the first authors who described it, termed the disorder "diabetes mellitus of bearded women", as women who suffered Achard Thiers syndrome had simultaneous problems with glucose metabolism and adrenocortical hormones (the name hyperinsulinemic hyperandrogenism is also mentioned in some studies) [1] [2] [3]. The clinical presentation of Achard Thiers syndrome is comprised of the main symptoms of diabetes on one hand (polyuria, polydipsia, etc.), and signs of hyperandrogenism on the other (hirsutism, especially on the head and neck; menstrual changes such as oligomenorrhea and amenorrhea, clitoral enlargement, infertility, and obesity) [5]. Postmenopausal women are identified as the main patient population [3] [5]. Some studies have emphasized the primary role of adrenocortical disease in the etiology of insulin resistance seen in patients with Achard Thiers syndrome, and have remarked that diabetes mellitus is not related to the changes that normally develop in the pancreas [4] [5]. In addition, psychiatric symptoms and disorders were noted in the first patients described with this condition [5]. Acanthosis nigricans is a common symptom of Achard Thiers syndrome as well. Another condition characterized by hyperandrogenism and hyperinsulinemia is the polycystic ovary syndrome or PCOS, which is usually identified in young women.
Workup
A detailed patient history and a thorough physical examination are the two crucial steps needed for the diagnosis of Achard Thiers syndrome. Physicians should inquire about the onset of abnormal hair growth and evaluate the onset, progression, and severity of additional symptoms. The physical examination should confirm the previously mentioned findings and provide solid evidence for a detailed laboratory investigation. The OGTT test is sufficient to detect hyperinsulinemia, while a complete androgen hormone panel is recommended for assessing the adrenal gland function. Because obesity and hypertension are frequently present, a comprehensive cardiologic examination through blood pressure measurements and electrocardiography (ECG) is often made. Imaging studies, such as ultrasonography or computed tomography (CT) may be of great benefit in determining the underlying cause of Achard Thiers syndrome, as intrinsic adrenocortical pathologies (e.g. carcinoma) have been described in its pathogenesis [5].
Treatment
Treatment for Achard-Thiers Syndrome focuses on managing the symptoms and underlying conditions:
- Diabetes Management: Lifestyle changes, oral hypoglycemic agents, or insulin therapy to control blood sugar levels.
- Hirsutism Treatment: Medications such as anti-androgens or topical treatments to reduce hair growth.
- Weight Management: Diet and exercise programs to address obesity.
- Blood Pressure Control: Antihypertensive medications if hypertension is present.
Prognosis
The prognosis for Achard-Thiers Syndrome varies depending on the severity of the symptoms and the effectiveness of the treatment. With proper management, patients can lead a normal life, although they may need ongoing treatment for diabetes and other symptoms. Early diagnosis and intervention are crucial for improving outcomes.
Etiology
The exact cause of Achard-Thiers Syndrome is not well understood. It is believed to result from a combination of genetic, hormonal, and environmental factors. The syndrome is associated with insulin resistance, which is a common feature in both diabetes and hyperandrogenism.
Epidemiology
Achard-Thiers Syndrome is a rare condition, and its exact prevalence is not well documented. It primarily affects postmenopausal women, typically those over the age of 50. Due to its rarity, it may often be underdiagnosed or misdiagnosed.
Pathophysiology
The pathophysiology of Achard-Thiers Syndrome involves a complex interplay between insulin resistance and excess androgen production. Insulin resistance can lead to increased insulin levels, which may stimulate the ovaries or adrenal glands to produce more androgens. This hormonal imbalance contributes to the symptoms of hirsutism and menstrual irregularities.
Prevention
There are no specific preventive measures for Achard-Thiers Syndrome due to its unclear etiology. However, maintaining a healthy lifestyle with regular exercise, a balanced diet, and routine medical check-ups can help manage risk factors such as obesity and diabetes, potentially reducing the likelihood of developing the syndrome.
Summary
Achard-Thiers Syndrome is a rare endocrine disorder characterized by a combination of diabetes and hyperandrogenism, primarily affecting postmenopausal women. Diagnosis involves clinical evaluation and various tests, while treatment focuses on managing symptoms and underlying conditions. Although the exact cause is unknown, a combination of genetic and environmental factors is believed to play a role. With appropriate management, patients can achieve a good quality of life.
Patient Information
If you have been diagnosed with Achard-Thiers Syndrome, it's important to work closely with your healthcare provider to manage your symptoms. Treatment may involve medications to control blood sugar and reduce hair growth, as well as lifestyle changes to address weight and blood pressure. Regular follow-ups and monitoring are essential to ensure effective management of the condition. Remember, with the right care, you can lead a healthy and fulfilling life.
References
- Vahora R, Thakkar S, Marfatia Y. Skin, a mirror reflecting diabetes mellitus: A longitudinal study in a tertiary care hospital in Gujarat. Indian J Endocrinol Metab. 2013;17(4):659-664.
- Malaisse W, Lauvaux JP, Franckson JR, Bastenie PA. Diabetes in bearded women (Achard-Thiers-Syndrome) : A clinical and metabolic study of 20 cases. Diabetologia. 1966;1(3-4):155-161.
- Dunaif A. Insulin resistance and the polycystic ovary syndrome: mechanism and implications for pathogenesis. Endocr Rev. 1997;18:774-800.
- Adashi EY. Hyperinsulinemic Androgenism: A Pathophysiologic Paradox. In: R. J. Chang (ed.), Polycystic Ovary Syndrome. Serono Symposia USA book series; 1996:245-253.
- R. Azziz. A Brief History of Androgen Excess. In: R. Azziz et al, eds. Contemporary Endocrinology: Androgen Excess Disorders in Women: Polycystic Ovary Syndrome and Other Disorders. 2nd Ed. Totowa, NJ: Humana Press Inc.; 2004:3-16.