Endocrine Abstracts

Autoimmune polyglandular syndrome type 2 (APS-2) is cluster of autoimmune diseases characterized by autoimmune adrenal insufficiency and thyroid disease (Schmidt’ syndrome) with or without type 1 diabetes (carpenter syndrome). This autoimmune condition may be associated with hypogonadism, hypopituitarism, immunoglobulin A deficiency, myasthenia gravis, celiac disease, and vitiligo. Co-existence of myasthenia gravis and APS 2 is extremely rare and their common etiology has been unclear Here, we report a case of APS2 accompanied by congenital myasthenia gravis and focal segmental glomerulosclerosis. A 2 year, 5-months old girl, known case of adrenal insufficiency since the age of 9 months and hypothyroidism since the age of one and half years. She also had been treated for steroid resistant nephrotic syndrome due to focal segmental glomerulosclerosis since age of 18 months Now presented with complaint of bilateral ptosis and cough for last 2 months. On examination, Well oriented child with obvious bilateral ptosis with weight (−1 SDS) and height (−2SDS), BP above 99th centile and no sign of dehydration and pigmentation and other systemic examination was unremarkable and normal female genitalia with prepubertal Tanner stage. On investigation Electromyography (EMG) and nerve conduction studies showed myopathy. Serum anti-Anti acetylcholinesterase receptor antibodies and serum Anti MuSK Antibodies titer were negative. HRCT showed no evidence of thymoma. Pyridostigmine started for seronegative myasthenia gravis and during treatment patient improved. APS type 2 is associated with genetic abnormalities of class II HLA alleles with HLA-DR3 and/or HLA-DR4 haplotypes. APS type 2 has a male-to-female ratio of 1:3. Although cases of APS-2 have been reported in children. Its association with myasthenia gravis is rare, and their existence with focal segmental glomerulosclerosis has not been reported until now. So, given predilection to concomitant diseases, regular surveillance is crucial to screen for other conditions. Hence, this case report is very important since it recollects all the information needed for the prompt diagnosis and the corresponding management that physicians need to know for the adequate treatment of the patients suffering from this condition