The HAIR-AN syndrome is a rare subtype of

polycystic ovary syndrome Polycystic ovary syndrome, or PCOS, is the most common endocrine disorder in women of reproductive age. The syndrome is named after the characteristic cysts which may form on the ovaries, though it is important to note that this is a sign and no ...

(PCOS) characterized by

hyperandrogenism Hyperandrogenism is a medical condition characterized by high levels of androgens. It is more common in women than men. Symptoms of hyperandrogenism may include acne, seborrhea (inflamed skin), hair loss on the scalp, increased body or facial ...

(HA),

insulin resistance Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin. Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood gluco ...

(IR) and

acanthosis nigricans Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, fore ...

(AN).James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . The symptoms of the HAIR-AN syndrome are largely due to severe

, which can be secondary to blocking antibodies against the

insulin receptor The insulin receptor (IR) is a transmembrane receptor that is activated by insulin, IGF-I, IGF-II and belongs to the large class of receptor tyrosine kinase. Metabolically, the insulin receptor plays a key role in the regulation of glucose ho ...

or genetically absent/reduced insulin receptor number/function. Insulin resistance leads to hyperinsulinemia which, in turn, leads to an excess production of androgen hormones by the ovaries. High levels of androgen hormones (hyperandrogenism) in females causes excessive hair growth,

acne Acne, also known as ''acne vulgaris'', is a long-term Cutaneous condition, skin condition that occurs when Keratinocyte, dead skin cells and Sebum, oil from the skin clog hair follicles. Typical features of the condition include comedo, black ...

and irregular menstruation. Patients with both underlying mechanisms of insulin resistance may have more severe hyperandrogenism. Insulin resistance is also associated with

diabetes Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ap ...

heart disease Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels. CVD includes coronary artery diseases (CAD) such as angina and myocardial infarction (commonly known as a heart attack). Other CVDs include stroke, hea ...

and excessive darkening of the skin (acanthosis nigricans)

Signs and symptoms

Obesity is the chief symptom of HAIR-AN. In the majority of young women affected by HAIR-AN, hyperandrogenism leads to oily skin,

hirsutism Hirsutism is excessive body hair on parts of the body where hair is normally absent or minimal. The word is from early 17th century: from Latin ''hirsutus'' meaning "hairy". It usually refers to a "male" pattern of hair growth in a female that ...

, menstrual irregularities and, in some cases, androgenic alopecia,

clitoromegaly Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though deliberately induced clitoris enlargement as a form of genital body modification is achieved through various uses of anabo ...

, changes in muscle mass and deepening of the voice. Insulin resistance can be accompanied by normal or elevated levels of

glucose Glucose is a simple sugar with the molecular formula . Glucose is overall the most abundant monosaccharide, a subcategory of carbohydrates. Glucose is mainly made by plants and most algae during photosynthesis from water and carbon dioxide, using ...

. Symptoms of diabetes such as

polydipsia Polydipsia is excessive thirst or excess drinking.Porth, C. M. (1990). ''Pathophysiology: Concepts of altered health states''. Philadelphia: J.B. Lippincott Company. The word derives from the Greek () "very thirsty", which is derived from (, "mu ...

polyuria Polyuria () is excessive or an abnormally large production or passage of urine (greater than 2.5 L or 3 L over 24 hours in adults). Increased production and passage of urine may also be termed diuresis. Polyuria often appears in conjunction with ...

and weight loss may sometimes be present.

Causes

The causes of the HAIR-AN syndrome are not fully understood. Some studies hypothesize that the HAIR-AN syndrome is caused by a combination of genetic and environmental factors. HAIR-AN is found in 1-3% women affected hyperandrogenism. Other studies have proposed the SAHA syndrome as a cause of the HAIR-AN syndrome.

Diagnosis

The diagnosis of HAIR-AN is based on identifying the symptoms and correlating them to the known risk factors. The severity of hirsutism which accompanies the HAIR-AN syndrome has been found to correlate to the activity of the stromal ovarian cells, as they are overstimulated by elevated insulin levels.

Treatment

The treatment is based on addressing obesity, thus reducing insulin resistance and its undesired effects. Insulin resistance can be treated with

metformin Metformin, sold under the brand name Glucophage, among others, is the main first-line medication for the treatment of type 2 diabetes, particularly in people who are overweight. It is also used in the treatment of polycystic ovary syndrome. ...

and may have a positive impact on reproductive function. Pharmacological treatment by suppression of gonadotropin with estrogen-progesterone oral contraceptives can reduce the hyperandrogenism by decreasing LH (leutinizing hormone) levels. Even their sex hormone binding to globulin increase is also responsible for decreasing body's bio-availability of

testosterone Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondar ...

. Progestin treatment with

desogestrel Desogestrel is a progestin medication which is used in birth control pills for women. It is also used in the treatment of menopausal symptoms in women. The medication is available and used alone or in combination with an estrogen. It is taken ...

and

norgestimate Norgestimate, sold under the brand names Ortho Tri-Cyclen and Previfem among others, is a progestin medication which is used in birth control pills for women and in menopausal hormone therapy. The medication is available in combination with an ...

appears to have fewer androgenic side effects and may be safer to use in persons with abnormal lipid levels or

. Other proposed treatments include antiandrogenic medications,

spironolactone Spironolactone, sold under the brand name Aldactone among others, is a medication that is primarily used to treat fluid build-up due to heart failure, liver scarring, or kidney disease. It is also used in the treatment of high blood pressure ...

(in combination with oral contraceptives to prevent menstrual cycle irregularities), flutamide, and the 5α-reductase inhibitor finasteride.

References

{{reflist Endocrine gonad disorders

Signs and symptoms

Causes

Diagnosis

Treatment

See also

References