APS

1. An interesting case of
Autoimmune Polyglandular
Syndrome
Prof. Dr.C.Ramakrishnan’s Unit (M4)
Dr. Sunil Thomas George PG

2. History
23 year old female presented with
• Skin pigmentation all over the body
• Fatigability
• Loss of weight.
• H/o loss of appetite
No h/o fever/ yellowish urine or eyes / pruritis /clay coloured stools
No H/o joint pain or rash
X 2months

3. History
No H/o polyuria /polydipsia
No h/o vomiting/hemetemesis/melena/loose stools
No H/o cold or heat intolerance
No H/o weakness /blurring of vision

4. Past History
• Hypothyroidism -12 years on irregular medication
• No h/o DM, BA, TB
• No blood transfusion previously
Personal History
• Mixed diet
• Attained menarche at 17 years
• Cycles regular 3/28

5. Family History
• Non consanguineous marriage

6. General examination
• Conscious, oriented ,afebrile
• Pallor (+)
• No cyanosis/clubbing/lymphadenopathy
• Hyperpigmentation uniformly all over body including palm and
buccal mucosa
• BP: 90/70 mmHg
• PR:87/min

7. Systemic examination
• CVS: S1 ,S2 +
• No murmur
• RS : NVBS +
• No added sounds
• P/A : soft, no organomegaly
• CNS: NFND

11. • Dermatology opinion was sought and a diagnosis of Addison's disease
was made.

12. Investigations Value Reference value
Hemoglobin
Peripheral smear
10.7 g/dL
Microcytic hypochromic
anemia
12-15gm.dL
TC 5850 cells/cumm 4,000-10,000 cells/cumm
DC N-35/L56/E-1.4/M-6.1/B-0.4
%
N-40-80/L-20-40/E-1-6/M-2-
10/B<1-2 %
ESR 20mm/hr 0-29 mm/hr
PCV 30% 36-46%
Platelet count 2.36 Lakhs/cumm 1.5-4.0 Lakhs/cumm

13. Investigations Value Reference Value
Free T3 2.43pg/ml 2.3-4.2pg/ml
Free T4 1.00ng/dL 0.93-1.7 ng/dl
TSH 146.67 uIU/ml 0.35-5.50 uIU/ml
RBS 99 mg/dL 80-120mg/dL
Serum Calcium 8.8 mg/dL 8.1-11.0 mg/dL

14. Investigation Values Reference Value
CORTISOL AM
(SERUM&BLOOD)
0.054 UI/dL 6.2-19.4ug/dL
ACTH MORE THAN 2000 pg/mL 7.3 -63.3pg/ml
ANTI TPO ANTIBODIES MORE THAN 1000 IU/mL 0.0-5.61 IU/ml

15. • ECG: NSR, ST-T normal, within normal limit.
• Chest X-Ray- Normal
• USG Neck: Enlarged thyroid gland with multiple nodules
• UGI Scopy: Granular mucosa (Sago grain appearance) noted in the body
and antrum ?H.pylori induced, No Post cricoid web.
• CT Adrenals: Atrophied adrenal gland

16. PROVISIONAL DIAGNOSIS
• Autoimmune Polyglandular Syndrome

17. Addison's disease (primary adrenal insufficiency)
• Symptoms - Anorexia, nausea, vomiting, weight loss, weakness, and
fatigue
• Signs - Chronic hyperpigmentation of creases and scars, as well as
orthostatic hypotension

18. Polyglandular autoimmune syndrome type I
• Also known as autoimmune polyendocrinopathy-candidiasis-
ectodermal dystrophy (APECED) syndrome.
• Autosomal recessive
• Females > Males
• Most common among Finns, Sardinians, and Iranian Jews
• Hypoparathyroidism or chronic mucocutaneous candidiasis – first
manifestation, childhood or early adolescence

19. Polyglandular autoimmune syndrome
type II (PGA-II)
• Most common of the immunoendocrinopathy syndromes.
1. Autoimmune Addison's disease
2. Thyroid autoimmune diseases
3. Type 1a diabetes mellitus
4. Primary hypogonadism, myasthenia gravis, and celiac disease
• Most frequent combination is Addison's disease and Hashimoto's
thyroiditis

20. Polyglandular autoimmune syndrome
type II (PGA-II)
• Age group - Third and fourth decade.
• APS type II is a rare endocrine disorder with a frequency of
1.4–2.0/100 000 in India
• Female preponderance
• Associated with HLA-DR3 and/or HLA-DR4 haplotypes,
• Autosomal dominant

21. Work-up
• 21-hydroxylase
• 17-hydroxylase
• Thyroid peroxidase (TPO)
• Thyroid-stimulating immunoglobulins (TSI)
• Anti-tissue transglutaminase antibodies
• Immunoglobulin-A (IgA) endomysial antibodies and antigliadin Ab
• Parietal cell and anti-intrinsic factor antibodies

23. FINAL DIAGNOSIS
•Autoimmune
Polyglandular Syndrome
Type II

24. Management:
• Endocrinologist opinion was sought
• Patient was started 15 mg hydrocortisone, 50 mcg fludrocortisone and
Thyronorm 125mcg per day.
• Patient is currently on follow-up in GM-OPD

25. Thank you