Autoimmune Polyendocrine Syndrome
Also written as APS.
Two distinct autoimmune polyendocrine syndromes are known:
What our notes say
- Two distinct autoimmune polyendocrine syndromes are known: (Davidson's Essentials of Medicine - 2nd)
- In infants a daily dose of 10 mg/kg up\nof the autoimmune polyendocrine syndrome, including (Devendra K. Gupta, Krishna M. Goel - Hutchison’s Paediatrics. chdhe-Jaypee Broth)
- A rare autoimmune polyendocrine syndrome due hypocalcaemia, hyperphosphataemia and the phosphaturic, (Devendra K. Gupta, Krishna M. Goel - Hutchison’s Paediatrics. chdhe-Jaypee Broth)
- Causes: Post-surgical (most common acquired cause), autoimmune (in Autoimmune Polyendocrine Syndrome-1, APS-1, due to AIRE gene mutation), DiGeorge syndrome (22q11 deletion), and hypomagnesaemia. (Endocrine & Renal Pathology — Must Know Notes — Notes)
Study material on Autoimmune Polyendocrine Syndrome
Practice questions on Autoimmune Polyendocrine Syndrome
Autoimmune Polyendocrine Syndrome Type 1 (APS-1) includes all of the following EXCEPT
- Adrenal insufficiency (Addison's disease)
- Hypercalcemia
- Hypoparathyroidism
- Chronic mucocutaneous candidiasis
Answer: B. APS-1 (APECED) = AIRE gene mutation (autosomal recessive). Classic triad: Chronic mucocutaneous Candidiasis + Hypoparathyroidism + Adrenal insufficiency (Addison's). Causes HYPOcalcemia (not hypercalcemia) due to hypoparathyroidism. Also: type 1 DM, hypothyroidism, gonadal failure, alopecia, vitiligo.