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Autoimmune Polyendocrine
Syndrome 2 in A Child – A Case
Report
Dr.Mullai Baalaaji A.R. MD PG
Dr. Parivathini.S.
Dr.Muralidharan.P.S.
M-3 Unit, Institute of Child Health
and Hospital for Children, Egmore.
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Case History
• 11 years old child Dinesh kumar second
child to 3rd degree consanguineous parents.
• Diagnosed with diabetes at age of 7 years
• Severe DKA at presentation.
• Followed up in diabetic clinic past 4 years.
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Contd..
• One admission for DKA in past 4 years, otherwise uneventful.One episode of Acute viral hepatitis A one year back.
• Developed hypoglycemic episodes 4 years after being diagnosed.
• Necessitated insulin dose reduction by 25%
• Increased pigmentation of face and upper limb for two months duration.
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Contd..
• No family history of Addison disease ,
Diabetes mellitus or other endocrine
disorders.
• No h/o contact with T.B.
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Clinical Examination
• Increased pigmentation over face, upper limbs, trunk, creases.
• Genitals normal.
• He was normotensive.
• No acanthosis, no vitiligo, no goitre,no alopecia.
• Other systems examination normal.
• No signs of Vitamin deficiencies.
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Growth pattern
95
100
105
110
115
120
125
2006 2007 2008 2009
Heightcm
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Growth pattern
0
5
10
15
20
25
2006 2007 2008 2009
Weight kg
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Investigations
• Serum electrolytes, Calcium, Phosphate
within normal limits.
• Hemogram,complete blood counts normal.
• Mantoux neg.
• CXR normal.
• ECG, Echocardiogram normal.
• HIV Non Reactive.
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Endocrine workup
• ACTH Stimulation test:
Cortisol Basal - 1.60 mcg/dl.
1½hrs - 1.50 mcg/dl.
3 hrs - 1.40 mcg/dl.
• Thyroid profile within normal limits.
• Serum Parathormone – 22.82 pg/ml.(10-169)
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Contd..
• Thyroid Antibodies
Anti microsomal Ab positive.
• Anti Tissue trans glutaminase Ab < 12.3 –
normal.
• GAD, ICA negative.
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• Type 1 Diabetes.
• Addison’s.
• Thyroid antibodies positive.
AUTOIMMUNE
POLYENDOCRINE
SYNDROME II
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Treatment
• Insulin dosage modified according to SMBG.
• Hydrocortisone and Fludrocortisone supplements.
• Parents have been screened for diabetes, thyroid profile – normal.
• Screening of siblings – Normal thyroid profile.
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• The child has been on hydrocortisone and
fludrocortisone for the past 8 months, the
pigmentation intensity has lessened, but not
disappeared.
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Discussion
• Type 1 diabetes children - increased risk for
other autoimmune diseases such as
autoimmune thyroiditis, autoimmune
gastritis, Addison‘s, Celiac disease,
Vitiligo.
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APS - 1
• Genetic locus – chr.21q. AIRE gene.
• Triad – Chronic mucocutaneous candidiasis,
Hypoparathyroidism, Adrenal insufficiency.
• Index case – 2 required for diagnosis.
• Sibs – 1 required.
• Lifelong surveillance needed.
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APS 2
• 1926 - Schmidt described association
between Addison’s disease and thyroiditis.
• 1964 – Carpenter included Type 1 DM in
this syndrome.
• Most common of the polyglandular
syndromes.
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APS 2
• Atleast 2 of the following criteria:
Adrenal insufficiency
Autoimmune thyroid disease
Type 1 DM
• Adrenal insufficiency – concurrent or delayed onset for 2 decades or never manifested.
• No identifiable pattern of inheritance.
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Characteristics APS 1 APS 2
Inheritance Autosomal
recessive
Polygenic
Age at onset Infancy 20 – 40
Gender Equal Female
preponderance
Genetic association AIRE gene HLA assoc
Comparison
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Characteristics APS 1 APS 2
Addison’s 60 –72% 70%
Hypoparathyroid 79 –96% Rare
Autoimmune
thyroiditis
5% >70%
Type 1 DM 14% >50%
Prim
hypogonadism
60% female
14% male
5%
Hypophysitis Not reported Reported
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Clinical features APS 1 APS 2
Pernicious anemia 13%(early) As common
Chr mucocut candidiasis 100% Not reported
Vitiligo 13% 5%
Alopecia 29% Reported
Celiac disease - 2-3%
Autoimmune hepatitis 12% Not reported
Myasthenia,Parkinson Not
reported
Reported
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Management
• Hormonal replacement remains the only form of treatment of polyglandular syndromes.
• Onset of associated disorders is unpredictable, and are treated as they develop.
• Screening of the individuals and their relatives - prevent morbidity and mortality.
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Contd..
• Specific combinations require specific management.
• Thyroid replacement can precipitate life threatening adrenal failure in pts with unrecognised Addison’s.
• Biochemical evidence of hypothyroidism may resolve after glucocorticoid replacement.
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Contd..• Routine thyroid autoantibody screening of all
T1DM patients and full endocrine autoantibody
testing in those found to be positive is
recommended.
• Use of full diagnostic autoantibody panels followed
by monitoring of the function of any targeted organ
for all Addison's disease probands and their
immediate relatives.
• A family history of poly-glandular failure – Red
Flag.
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Suspect Addison’s
• Unexplained recurrent hypoglycemia in
T1DM pts
• Reduction in insulin requirement of >15 –
20%
• Development of abnormal pigmentation .
• Decline in growth velocity.
• Family H/O Addison’s.
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Management of Addison’s
disease
• Hydrocortisone – mainstay.
• Replace both glucocorticoids and mineralocorticoids.
• Glucocorticoids – To simulate diurnal rhythm, 2/3 dose in morning, 1/3 in late afternoon.
• Side effects – insomnia, irritability, mental excitement.
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Contd..
• Other side effects such as hypertension,
glycemic control, growth monitoring.
• Complications rare in the doses
recommended except for gastritis.
• Stress such as Infections, surgery or trauma
- doses of hydrocortisone doubled.
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Contd..
• Electrolyte abnormalities – variable, 20 –
30% don’t have hyponatremia or
hyperkalemia at any time.
• Complications of mineralocorticoid therapy
– hypokalemia, hypertension, even CCF.
• Periodic measurements of body weight,
Potassium, blood pressure.
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Contd..
• All patients with Adrenal insufficiency,
Type 1 Diabetes mellitus should carry
medical identity card.
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Take Home Message
• High index of suspicion for additional
autoimmune disorders in a child with one
disease.
• Life long follow up needed .
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Acknowledgements
• We thank Dr.Murthy who helped us to
perform ACTH stimulation test and for his
valuable guidance.
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THANK YOU