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Achard Thiers Syndrome

NORD is very grateful to Catherine M. Gordon, MD, assistant professor of pediatrics at Harvard Medical School, and Kelly Becker, BA, for assistance in the preparation of this report.

Synonyms of Achard Thiers Syndrome

  • Diabetic Bearded Woman Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown.

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.

Standard Therapies

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.

Treatment
Diabetes may be managed by diet and/or insulin or other medications, as required. Cosmetic measures (for example, waxing and electrolysis) can be used to facilitate hair removal. For younger women with PCOS, treatment with an oral contraceptive is the most common therapy, whereas for postmenopausal women with Achard-Thiers syndrome, hormone replacement therapy is usually recommended. Antiandrogens have also been used.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Insulin-sensitizing agents (such as metformin) are being investigated as a treatment for androgen excess (hyperandrogenism) accompanying insulin resistance.

Achard Thiers Syndrome Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

TEXTBOOKS
Gordon CM, Becker K. Achard-Thiers Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:559.

Wilson JD, Foster DW, Kronenberg HM, et al. Williams Textbook of Endocrinology, 9th ed. Philadelphia: WB Saunders, 1998.

JOURNAL ARTICLES
Achard C, Thiers J. Le virilisme pilaire et son association a l'insuffisance glycolytique (diabete des femmes a barb). Bull Acad Natl Med 1921;86:51-64.

Dunaif A. Insulin resistance and the polycystic ovary syndrome: mechanism and implications for pathogenesis. Endocr Rev. 1997;18:774-800.

Lubowe I. Achard-Thiers syndrome. Arch Dermatol. 1971;103:544-545.

Shore RN, DeCherney AH, Stein KM, et al. The empty sella syndrome: virilization in a 59-year-old woman. JAMA. 1974;227:69-70.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/27 00:00:00 GMT+0

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