Hirsutism and Oligomenorrhea, Not Always Polycistic Ovary Syndrome

Background: Hirsutism is excess terminal hair that commonly appears in a male pattern in women. The most common cause of hirsutism is polycystic ovary syndrome. Other causes are idiopathic hyperandrogenemia, idiopathic hirsutism, adrenal hyperplasia, iatrogenic hirsutism, thyroid dysfunction, Cushing syndrome and androgen-secreting tumors.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenalsteroidogenesis pathway that lead to impaired cortisol biosynthesis.

Objective: We present a case of non-classic congenital adrenal hyperplasia (NCAH) in a 13 year old female who presented to us with hirsutism and oligomenorrhea.

Methods: Case reports.

Results: A 13-years-old girl was referred for evaluation for hirsutism. Height 168 cms, weight 54 kgs and BMI of 19.13. Distribution and extent of hirsuitism assessed by modified Ferriman-Gallway score was 11 (moderate hirsuitism). She has not rapid onset of symptoms, signs of virilization, and she had not palpable abdominal or pelvic mass.

The patient had already consulted on other occasions with the diagnosis of idiopathic hirsutisms.

Ultrasonography showed uterus and bilateral ovaries normal in size shape and ecopattern. There was no detectable ovarian or adrenal mass.

Androstenedione, dehydroepiandrosterone sulfate and 17-hydroxyprogesteronewere elevated (8.82ng/ml, 3421 ng/ml and 38.1 ng/ml respctively). Estradiol (54 pg/ml), FSH (10.61 mIU/ml), T4 (16.56pmol/L) and TSH (4.49 mUI/ml) were normal.

A genetic study was carried out, finding a mutation inthe
21-hydroxylase (CYP21A2).

Conclustion: Women presenting with signs and symptoms of androgen excess should be investigated about NCAH.

The majority of NCAH can be associated with three distinct enzyme defects: defects of 21-hydroxylase, 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase. The first one is the most common.

This case emphasizes the importance of making the differential diagnosis of hirsutism with interdisciplinary follow-up in patients with hormonal diseases.