Endocrine Abstracts

Introduction: Severe insulin resistance syndromes are rare syndromes characterized by clinical features like: acanthosis nigricans, ovarian hyper androgenism in post pubertal females: hirsuitism, oligomenorrhea and infertility.

Major causes of severe insulin resistance are: i) genetic defects in insulin receptor like type A syndrome, or ii) autoimmune like antibodies to insulin receptor like in type B syndrome or antibodies to insulin itself, iii) congenital or acquired partial or generalized lipodystrophy.

Case report: Here, we report three females (17, 21, and 18 years) who had been diagnosed as severe insulin resistance based on the following shared features:

- Severe acanthosis nigricans;

- Hyperandrogeniticty (hirsutism and oligomenorrhea);

- Pseudoacromegaly;

- Very high fasting insulin levels ranging from 500 to 1700 pmol/l (reference range 17.8–173) pmol/l.

Interestingly, all three patients were noted to have extreme lower leg swelling of non-pitting edema that was present before starting the treatment. All of them were subjected to skin biopsy. Results of skin biopsy of lower leg showed normal subcutaneous tissue in one patient with perivascular lymphocytic infiltrate and occasional eosinophils in the other two patients.

All of the three patients were positive for the same insulin receptor mutation.

Conclusion: Awareness of this extreme lower extremity swelling in patient with severe insulin resistance syndrome would help to avoid unnecessary work up for other causes of lower limb swelling.