POLYCYSTIC OVARIAN SYNDROME FROM DNA TO DISORDER BY ELIZABETH J. PAUYO 08/02/2010NS215G: Mendelian and Human Genetics

DEFINITION  Polycystic Ovarian Syndrome (PCOS) is a polygenetic disorder that affects the ovaries.  The mutation is believed to be located on the 19th chromosome because of the correlation to diabetes  Approximately 5-10% of women in the United States are affected by PCOS

DEFINITION Follicle (sacs containing eggs) in the ovaries don’t reach full maturity and never release an egg. The excessive number of follicles clump up on the outer surface of the ovary and form cysts.

SYMPTOMS  Abnormal menstrual cycles  No periods  Irregular periods  Heavy or prolonged bleeding  Painful periods  Inability/difficulty getting pregnant

SYMPTOMS  Acne  Facial hair (more than is normal for the ethnic group)  Overweight or difficulty losing weight  Acanthosis nigricans: darker patches of skin in neck folds, armpits, folds in waistline, or groin

CAUSES  Several hormonal imbalances – Chain reaction  Inherent predisposition  Higher than normal level of androgen  High level of luteinizing

EFFECTS  Symptoms tend to be mild at first. You may have only a few symptoms or a lot of them. The most common symptoms are:  Weight gain and trouble losing weight due to the high level of blood sugar.  Elevated androgen produces extra hair on the face and body. Often women get thicker and darker facial hair and more hair on the chest, belly, and back.

COMPLICATION  Adult-onset diabetes  Atherosclerosis – hardening of the arteries  High Cholesterol  Hyperplasia  Endometrium cancer

TREATMENT  Birth control to reduce androgen level and clear acne  Blood pressure and cholesterol medicine  Insulin-sensitizing medication  Laparoscopy  HEALTHY LIFESTYLE

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