HAIR-AN syndrome

The HAIR-AN syndrome is a rare subtype of polycystic ovary syndrome (PCOS) characterized by hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN).[1][2][3][4] The symptoms of the HAIR-AN syndrome are largely due to severe insulin resistance,[5] which can be secondary to blocking antibodies against the insulin receptor 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 and irregular menstruation. Patients with both underlying mechanisms of insulin resistance may have more severe hyperandrogenism. Insulin resistance is also associated with diabetes, heart disease and excessive darkening of the skin (acanthosis nigricans)[6]

HAIR-AN syndrome
Acanthosis nigricans

Signs and symptoms

Obesity is the chief symptom of HAIR-AN.[4] In the majority of young women affected by HAIR-AN, hyperandrogenism leads to oily skin, acne, hirsutism, menstrual irregularities and, in some cases, androgenic alopecia, clitoromegaly, changes in muscle mass and deepening of the voice. Insulin resistance can be accompanied by normal or elevated levels of glucose. Symptoms of diabetes such as polydipsia, polyuria and weight loss may sometimes be present.[4]

Features Manifestations
Hyperandrogenism Hirsutism of the face, chin, chest, perineum
Alopecia (hair loss from the vertex or crown areas of the scalp; bitemporal hair loss less frequent)
Male body habitus (muscularity)
Acne
Clitorimegaly
Menstrual dysfunction (amenorrhea, infertility)
Increased libido
Insulin resistance Polydipsia, polyuria (symptoms of insulin resistance are often subclinical)
Acanthosis nigricans Verrucous, velvety hyperpigmentation on nape of neck, vulva, axillae, groin, umbilicus, submammary regions; increased skin tags
Obesity Increased waist-to-hip ratio (android appearance)

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.[7][1] HAIR-AN is found in 1-3% women affected hyperandrogenism.[8] Other studies have proposed the SAHA syndrome as a cause of the HAIR-AN syndrome.[9]

Diagnosis

The diagnosis of HAIR-AN is based on identifying the symptoms and correlating them to the known risk factors.[10]

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.[7]

Treatment

The treatment is based on addressing obesity, thus reducing insulin resistance and its undesired effects.[7] Insulin resistance can be treated with metformin[11][12][13] and may have a positive impact on reproductive function.[4]

Pharmacological treatment by suppression of gonadotropin with estrogen-progesterone oral contraceptives can reduce the hyperandrogenism by decreasing LH (leutinizing hormone) levels.[14][4] Even their sex hormone binding to globulin increase is also responsible for decreasing body's bio-availability of testosterone.[7] Progestin treatment with desogestrel and norgestimate appears to have fewer androgenic side effects and may be safer to use in persons with abnormal lipid levels or hirsutism.[4] Other proposed treatments include antiandrogenic medications,[15] spironolactone[11] (in combination with oral contraceptives to prevent menstrual cycle irregularities),[4] flutamide,[11][4] and the 5α-reductase inhibitor finasteride.[16][11][12]

See also

References
  1. Rager, K. M.; Omar, H. A. (2006). "Androgen excess disorders in women: the severe insulin-resistant hyperandrogenic syndrome, HAIR-AN". TheScientificWorldJournal. 6: 116–21. doi:10.1100/tsw.2006.23. PMC 5917269. PMID 16435040.
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. Somani N, Harrison S, Bergfeld WF (2008). "The clinical evaluation of hirsutism". Dermatol Ther. 21 (5): 376–91. doi:10.1111/j.1529-8019.2008.00219.x. PMID 18844715. S2CID 34029116.
  4. George, Kathleen B. Elmer|Rita M. (2001-06-15). "HAIR-AN Syndrome: A Multisystem Challenge". American Family Physician. 63 (12): 2385–90. PMID 11430453. Retrieved 2017-03-25.
  5. Semple, Robert K.; Williams, Rachel M.; Dunger, David B. (2010). "What is the best management strategy for patients with severe insulin resistance?". Clinical Endocrinology. 73 (3): 286–290. doi:10.1111/j.1365-2265.2010.03810.x. PMID 20455892.
  6. "HAIR-AN syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-03-25.
  7. Dédjan, A. H.; Chadli, A.; El Aziz, S.; Farouqi, A. (2015). "Case Report Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome". Case Reports in Endocrinology. 2015: 193097. doi:10.1155/2015/193097. PMC 4503582. PMID 26229697.
  8. Azziz, Ricardo; Carmina, Enrico; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Héctor F.; Futterweit, Walter; Janssen, Onno E.; Legro, Richard S.; Norman, Robert J. (2009-02-01). "The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report". Fertility and Sterility. 91 (2): 456–488. doi:10.1016/j.fertnstert.2008.06.035. ISSN 0015-0282. PMID 18950759.
  9. "HAIR-AN Syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com". rightdiagnosis.com. Retrieved 2017-03-30.
  10. Elmer, Kathleen B.; George, Rita M. (2001-06-15). "HAIR-AN Syndrome: A Multisystem Challenge". American Family Physician. 63 (12): 2385–2391.
  11. MD, Scott Moses. "HAIR-AN Syndrome". fpnotebook.com. Retrieved 2017-04-03.
  12. Futterweit, W. (1999). "Polycystic ovary syndrome: clinical perspectives and management". Obstet. Gynecol. Surv. 54 (6): 403–13. doi:10.1097/00006254-199906000-00024. PMID 10358853.
  13. Ehrmann, David A. (1997). "Relation of functional ovarian hyperandrogenism to non-insulin dependent diabetes mellitus". Baillière's Clinical Obstetrics and Gynaecology. 11 (2): 335–47. doi:10.1016/s0950-3552(97)80040-5. PMID 9536214.
  14. Barbieri Robert L., Ryan Kenneth J. (1 September 1983). "Hyperandrogenism, insulin resistance, and acanthosis nigricans syndrome: A common endocrinopathy with distinct pathophysiologic features. Barbieri RL, Ryan KJ". American Journal of Obstetrics and Gynecology. 147 (1): Issue 1, 1 September 1983, Pages 90–101. doi:10.1016/0002-9378(83)90091-1. PMID 6351620.
  15. Goudas, Vasilios T.; Dumesic, Daniel A. (1 December 1997). "Polycystic Ovary Syndrome". Endocrinology and Metabolism Clinics of North America. 26 (4): 896–912. doi:10.1016/s0889-8529(05)70286-3. PMID 9429864.
  16. Taylor, Ann E. (1998). "Polycystic ovary syndrom". Endocrinol Metab Clin North Am. 27 (4): 877–902. doi:10.1016/s0889-8529(05)70045-1. PMID 9922912.
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