Endocrine Abstracts

Background: HAIR-AN, a syndrome of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN), is a specific subphenotype of polycystic ovary syndrome, and it is seen in almost 5% of all women with hyperandrogenism. We report the case of a HAIR-AN which posed a diagnostic challenge in a 16-year-old girl.

Case Presentation: A 16-year-old girl was referred by her pediatrician to the Endocrinology Department for exploration of primary amenorrhea. The patient was followed in pediatrics since the age of 6 for primary hypothyroidism with progressive onset of morbid obesity. On physical examination, the BMI was 30 kg/m². She had a Tanner stage 5. She had moderate hirsutism with a Ferriman-Gallwey score of 20. Acne was visible over her face and back. She had severe acanthosis nigricans on both axillae and neck. Lab tests revealed testosterone level at 1.13 ng/ml, SDHEA level at 611 µg/dl and delta 4 androstenedione at 4.1ng/ml with E2 at 52 pmol/l, FSH at 2.04 IU/l and LH at 5.3 IU/l. Fasting insulin levels were elevated at 35 µIU/ml with high HOMA-IR at 6.16. We ruled out the diagnosis of congenital adrenal hyperplasia, hyperprolactinemia, Cushing’s Syndrome and virilizing tumor of the adrenals or ovaries. Given the above features, the diagnosis of HAIR-AN syndrome was made. The patient was started in metformin along with lifestyle modifications. Four months later, she reported that a decrease in hirsutism starting the treatment and she lost two pounds.

Conclusions: In the presence of hirsutism and signs of insulin resistance in an adolescent consulting for primary amenorrhea, the diagnosis of HAIR-AN syndrome should be considered. This diagnosis could be difficult in the peripuberty period and the collaboration between pediatrician and endocrinologist is important to eliminate all the other differential diagnoses at this age.