The HAIR-AN syndrome, which consists of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN), is an underdiagnosed endocrinopathy.2 Hyperandrogenic women are seen frequently in clinical practice, the challenge being to identify a cause and source of the problem. Many such patients are classified, after thorough investigations, as polycystic ovary syndrome (PCOS). The problem with this identification is that the PCOS encompasses a wide range of clinical and laboratory presentations and, therefore, classification into subgroups may help in understanding the process and thereby targeting the management in a more appropriate way.
2The HAIR-AN syndrome is an example of a unique entity with a specific molecular basis. It was thought to be a rare syndrome, but recent experience suggests that as many as 5% of hyperandrogenic women have this syndrome.
3Here we report a classical case of HAIR-AN which had an unfortunate outcome because of initial misdiagnosis.
Case ReportA 20-year-old girl presented to the Endocrinology clinic with a history of being healthy until the age of 11 years, when she started experiencing right iliac fossa pain, followed by progressive change in voice, increased body and facial hair, increased pigmentation of skin, increased sweating, with heat intolerance and persistent bitemporal headache. She also noticed enlargement of hands and feet in the six years before presentation, prompting her to change shoes and watches frequently. For the previous three years, she had been experiencing polyuria and polydipsia, was told to have diabetes mellitus, and put on a diet. She had primary amenorrhea, and was put on a combination of pills which resulted in oligomenorrhea with dysmenorrhoea. She later stopped the medication.In 1990, the patient had been seen in another hospital, had been diagnosed with appendicitis, and appendectomy was performed to remove a mass found in the right iliac fossa (there was no report on the nature of the mass). In 1993, an ultrasound scan revealed a well-defined solid mass in the pelvis, suggestive of a left ovarian tumor, and the right ovary was visualized. The ovarian mass was subsequently excised. A frozen section done at the time was inconclusive. Paraffin sections did, however, show histological features consistent with a right polycystic ovary and mild hyperthecosis (Figure 1).Upon presentation to the Endocrine clinic, examination of the patient revealed a depressed girl who was not very communicative. She was about 162 cm tall, weighed 62.2 kg and had a BP of 140/80. She had a large face with big nose and macroglossia. Her hands and feet were large and bulky, with mainly soft tissue enlargement and nonpitting edema of the lower limbs. She had significant facial hirsutism with hypertrichosis over the rest of the body and coarse terminal hair over the limbs.Acanthosis nigricans was positive at the flexor surfaces, neck, axillae, cubital fossae and the base of the neck. Abdominal examination revealed the scars of the previous two operations, with no or...