Última actualización:
May 27, 2008
Años publicados: 1986, 1994, 2005
NORD gratefully acknowledges Catherine M. Gordon, MD, assistant professor of pediatrics at Harvard Medical School, and Kelly Becker, BA, for assistance in the preparation of this report.
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.
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.
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.
Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known.
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.
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: [email protected]
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.
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.
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