Hi Sylwia,
It sounds like you are describing congenital adrenal hyperplasia (CAH) , late onset. The symptoms can appear very similar to those of Polycystic Ovarian Syndrome (PCOS). CAH is an inherited disorder in the proteins (enzymes) responsible for the production of hormones. Women born with an abnormality of one of these proteins have decreased production of some hormones (usually cortisol) and an increase in others, 17-hydroxy progesterone and testosterone. With the elevation in testosterone, the symptoms that a patient experiences are similar to those of women with PCOS, with acne, excessive hair growth and weight issues being common. Because the origin of the problem is a bit different, the treatment is also slightly different. Patients with CAH are treated with cortisol or related steroids to supplement the hormones that are low, and this results in a decrease in the testosterone as well. Sometimes additional medications are also required for ovulation and fertility.

We can certainly repeat the diagnostic tests to reestablish the diagnosis, and initiate treatments that should help with ovulation and conception.

Some gynecologists are very comfortable making this diagnosis, and others prefer to have a reproductive endocrinologist assume the care for these types of conditions.

It sounds like it would be very reasonable for you to make an appointment with a reproductive endocrinologist at this point, because it is likely that you have CAH adult onset and will require their assistance for conception.

L. April Gago MD