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"The only thing that all of the people with APS Type 1 have in common is the will to survive" -- Pablo Ramírez

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Admitted with us at Indira Gandhi Government Medical College, Nagpur, India is a 10year old girl who presented with extreme weakness, lethargy and growth failure. Her bony age was of a 4 year old, mentally dull and gross hyperpigmentation especially in flexural regions, conjunctiva and mucus membranes. She was in DKA and her endocrinologic profile(after treating DKA with insulin drip) was as follows: T3=0.45ng/ml (1.27-2.21) T4=2.60mcg/dl(5.60-14.90) TSH=1.77microIU/ml(0.70-6.40) Sr. Cortisol=29 mcg/dl(5-25) Sr. ACTH=5.2 pg/ml(N) Normal Sodium and potassium.

She is now receiving :
Morning 8am: Isophane Insulin – 14U ; Regular insulin – 4U 1 pm : Regular - 2 U 8 pm : Isophane Insulin – 8U ; Regular insulin – 4U Eltroxin 75ug once daily She has improved and become playful. We have pictures of her that we can share. We are perplexed regarding the hyperpigmentation and high cortisol level..is this a receptor defect?
What other investigations would be helpful?

Response from Dr MacLaren

Posted by dr at July 17, 2007 09:01 PM
T1DM is associated with autoimmune thyroid disease in about 1:4 girls in the US at least. The association falls under the umbrella of APS-2. Both of these diseases are uncommon in APS-1. The physicians were very correct to suspect Addison's disease also in this patient however the test results provided do exclude this disease as the cause of the hyperpigmentation. It is not likely due to antibodies against the steroid receptors since ACTH levels were not elevated, while such receptors are found inside cells and not on the surface of cells where antibodies could react to them.

I might think of wide spread acanthosis nigricans since the associated insulin resistance would lead to diabetes itself and could complicate T1DM. In India, many patients with insulin resistance do not become obese as in the US, albeit they usually have increased amounts of visceral fat. The other thought is to exclude hemochromatosis through measurement of iron components such as ferritin.

Kind regards,
Noel Maclaren MD
BioSeek Endocrine Clinics, New York

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