Signs & Symptoms

The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include abnormally high blood glucose due to the body’s inability to utilize insulin properly.

Those affected may also have abnormally high levels of glucose in the urine, frequent urination, excessive thirst and hunger, and weight loss. Other signs of the syndrome are directly due to the overproduction of androgens, and may include an increase in body hair, particularly on the face, chest, back, and other areas, receding hairline, deepening of the voice, enlargement of the clitoris; infertility; and obesity.

Typically, a detailed patient history shows the development of infrequent or very light menstrual periods in someone who has previously had normal menstruation (oligomenorrhea) or the absence of menstrual periods (amenorrhea) soon after the first menstrual period (menarche), commonly followed by development of excess body hair (hirsutism) and rapid weight gain. Many women with the disorder have acanthosis nigricans.

The constellation of clinical androgen excess and failure of the blood sugar control system to work properly (hyperinsulinemia) is now commonly identified earlier in a woman’s life, typically during adolescence and young adulthood, as polycystic ovary syndrome or PCOS.

Causes

These syndromes appear to be transmitted within families. Approximately 50% of the sisters of women with PCOS have some form of the syndrome. The exact mechanism of genetic transmission is unknown.

Affected Populations

Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known.

Related Disorders

Symptoms of the following disorders can be similar to those of Achard-Thiers. Comparisons may be useful for a differential diagnosis:

Acquired adrenogenital syndrome is a rare endocrine disorder that occurs because of a tumor in the adrenal glands which causes the overproduction of androgens. In an adult female the symptoms may include a male pattern of hair growth, loss of hair on the head, acne, deepening voice, and abnormally large muscles.

Empty sella syndrome is a rare brain disorder that may be inherited or acquired. The acquired form of the disease may occur as a result of a tumor in the pituitary gland or radiation to that area. Symptoms may include headaches, impaired vision, and/or obesity. Some people with empty sella syndrome cannot tolerate cold temperatures and may also have abnormally high blood pressure (hypertension). In women this disorder is associated with an increase in body hair and a male pattern of hair growth. (For more information on this disorder, choose “Empty Sella” as your search term in the Rare Disease Database.)

Diabetes is a complex endocrine disease that occurs when the pancreas does not produce enough insulin or the body is not able to use insulin properly. There are two main groups of diabetes: Type I (insulin-dependent) and type II (noninsulin-dependent). The symptoms of diabetes usually include frequent urination, extreme thirst, constant hunger, and unexplained weight loss. Long-term complications of diabetes may affect many organs of the body including the nervous system, heart, kidneys, and eyes. (For more information on this disorder, choose “Diabetes” as your search term in the Rare Disease Database.)

Polycystic ovary syndrome (PCOS) affects women and is a complex of symptoms that are not necessarily all present in all cases. Some, but not all, affected women have multiple cysts on the ovaries. Other characteristics include absent or irregular menstruation, failure of the ovary to release eggs (anovulation), elevated levels of the male hormones known as androgens (hyperandrogenism), excessive amounts of body hair (hirsutism), a high rate of miscarriage, and infertility. Three criteria often used for a diagnosis are menstrual irregularity, hyperandrogenism, and exclusion of other disease. There is some evidence that PCOS is an inherited condition.

Diagnosis

The diagnosis of Achard-Thiers syndrome should be suspected based on the clinical findings. Because affected women are hyperinsulinemic, a two-hour oral glucose tolerance test shows abnormally elevated levels of glucose in the blood.