|Year : 2012 | Volume
| Issue : 3 | Page : 93-95
Polyglandular autoimmune syndrome: We should entertain this possibility more than often
Jyoti Jain1, Shashank Banait2, Ulhas N Jajoo1, Harshal Pawade1
1 Department of Medicine, Mahatma Gandhi Institute of Medical Sciences, Sevagram, India
2 Department of Ophthalmology, Netra Hospital, Ingole Chowk, Wardha, Maharashtra, India
|Date of Web Publication||11-Aug-2012|
Department of Medicine, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Wardha - 442 102, Maharashtra
Source of Support: None, Conflict of Interest: None
Polyglandular autoimmune syndrome (PGS) type III is a rare immune-mediated disorder. Common clinical presentation includes symptoms of hypothyroidism, diabetes, pernicious anemia, vitiligo, and autoimmune alopecia. Other autoimmune disorders associated with PGA syndrome III are celiac disease, hypogonadism, myasthenia gravis, sarcoidosis, rheumatoid arthritis, inflammatory bowel disease, gastric carcinoid tumor, and hepatitis C. We report a case of PGA syndrome type III in an 18-year-old male. Hashimoto's thyroiditis was diagnosed when he was 13 years old. Clinical examination and laboratory findings revealed a PGS due to the presence of immune-mediated diabetes mellitus (DM) (type 1 DM), insufficient insulin hormone response, and thyroid autoimmunity. The patient had neither adrenal disease nor hyperparathyroidism. Therefore, we concluded that this patient has PGS type III A. When a patient presented with PGS, we should continue to consider other glandular hypofunction when evaluating patients with any type of endocrine hypofunction, as the risk of multiple glandular involvements is quite significant. Various therapeutic interventions if started early after diagnosis reduces the possible complications of the illness.
Keywords: Hashimoto′s thyroiditis, immune-mediated diabetes mellitus, pernicious anemia, polyglandular autoimmune syndrome
|How to cite this article:|
Jain J, Banait S, Jajoo UN, Pawade H. Polyglandular autoimmune syndrome: We should entertain this possibility more than often. Thyroid Res Pract 2012;9:93-5
|How to cite this URL:|
Jain J, Banait S, Jajoo UN, Pawade H. Polyglandular autoimmune syndrome: We should entertain this possibility more than often. Thyroid Res Pract [serial online] 2012 [cited 2020 Apr 2];9:93-5. Available from: http://www.thetrp.net/text.asp?2012/9/3/93/99653
| Introduction|| |
Polyglandular autoimmune syndromes (PGS) are a group of autoimmune disorders present with the constellations of symptoms due to multiple endocrine gland insufficiencies. , PGS type-III involves autoimmune thyroid deficiency along with one of the following: type 1 diabetes mellitus (DM), pernicious anemia, vitiligo, and alopecia.  The exact prevalence of PGS is unknown.  We report the case of PGS type-III A with autoimmune thyroid deficiency and type-1 DM.
| Case Report|| |
An 18-year-old young male presented to emergency unit with complaints of polyuria, polydypsia, and polyphagia associated with weight loss of 1 month duration. He also complained of pain in abdomen since 2 days which was diffuse and continuous along with nausea. There was no history of vomiting, diarrhoea, constipation, and fever. There was no history of similar episode in the past. On enquiry as to his past history, it was revealed that he was detected as a hyperthyroid 5 years back with symptoms of prominence of both eyes and thyroid swelling. His thyroid profile that time revealed T3-380, T4-9.5, and TSH less than 0.15. Ultrasonography of thyroid showed diffuse thyroid enlargement with multiple nodular lesions and fine-needle aspiration cytology was suggestive of Hashimoto's thyroiditis [Figure 1]. He was then treated with carbimazole 10 mg thrice daily but he developed hypothyroidism after three and half years of carbimazole treatment when he was started on thyroxine as his thyroid profile revealed T3-152, T4-5.7, and TSH-12.64. There was no significant family history.
|Figure 1: (a) Histology slide (H and E, Stain) (3a-40× magnification)- Section showing presence of thyroid follicles and diffuse lymphocytic proliferation in the gland (down arrow). (b) (3b-400× magnification) Section showing thyroid follicles (bent arrow), Hurthle cells (curved right arrow), and lymphoid follicle with germinal center (left arrow)|
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His vital signs were as follows: Glasgow coma score was 15/15, pulse 98 beats/minute, and blood pressure 110/70 mmHg, with respiratory rate of 22 breaths/minute. He was pale, afebrile but his mucous membranes were dry. Local examination of neck revealed 6 × 4 cm, solitary mobile thyroid swelling [Figure 2]. Rest systemic examination was normal along with normal external genitalia and secondary sexual characters. Skin examination did not reveal any hypopigmented lesion.
|Figure 2: Photograph showing thyroid swelling in front of neck (right arrow)|
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Pertinent laboratory data showed the following: hemoglobin 11.1 g/dl, leukocyte count 11,200/cu mm, and MCV 87.6 with normal peripheral smear. His random blood glucose level on admission was 295 mg/dl with large amount of urinary ketones. Renal function tests (serum creatinine 0.90 mg/dl; blood-urea nitrogen 25 mg/dl; serum potassium 3.9mEq/l), lipid profile, liver function test, electrocardiogram, RA factor, and serum calcium were normal.
Thyroid profile revealed normal T3 and T4 along with increased TSH (T3 153, T4 8.10, TSH more than 12.90) suggestive of subclinical hypothyroidism. Normal blood pressure and normal serum sodium and potassium diminished the diagnostic possibility of adrenal insufficiency; also his serum calcium was normal which diminished the possibility of parathyroid disease. However, his antithyroglobulin antibodies, antithyroid microsomal antibodies, anti-islet cell antibodies, antibodies to glutamic acid decarboxylase, and genetic testing could not be performed due to financial problems.
A diagnosis of PGS type III-A (autoimmune thyroid deficiency and type 1 DM) with diabetic ketoacidosis (DKA) and anemia was made. Diabetic ketoacidosis was treated with intravenous fluids and intravenous crystalline insulin. Clinical improvement with full recovery of ketosis was observed after 3 days and his stay in hospital was uneventful. Patient was than started on subcutaneous insulin along with oral thyroxine. In view of these findings, we kept the possibility of PGS in this patient. On discharge the patient was comfortable with stable vitals.
| Discussion|| |
PGS is a group of disorders of the endocrine glands which results in failure of the glands to produce their hormones.  Glandular abnormalities show evidence of hypofunction in one gland with evidence of other endocrine diseases in up to a quarter of patients. The involvement of glandular failure more commonly develops sequentially but may be apparent at the time of initial presentation. There is no specific sequence of individual glandular failures. PGS should be considered when immune dysfunction affects two or more endocrine glands.
The concept of polyglandular failure was first described by Thomas Addison in 1853 in a patient who has adrenocortical failure along with pernicious anemia. In 1980 Neufeld and Blizzard classified PGS into two broad categories: type-I and type-II. Later, third category was described as PGS type-III, which occurs in adults. The hallmark of PGS type-III is the absence of adrenal insufficiency which is present in PGS type-I and II.  PGS type-III is often observed in individuals in the same family, suggesting that its inheritance could be an autosomal dominant trait with incomplete penetrance.  It is more prevalent in middle-aged females than in males. PGS type-III can be further classified into three subcategories and autoimmune thyroiditis is the characteristic of all subcategories. It is associated with immune-mediated DM (type-1) in IIIA, with pernicious anemia in IIIB, and with vitiligo and/or alopecia and/or other organ-specific autoimmune disease in IIIC syndrome. ,
The presenting symptoms are goitre, symptoms of hypothyroidism (fatigue, depression cold intolerance, constipation, dry hair, sluggishness, somnolence, and hoarseness of voice), or both. Occasionally, destruction of the gland early in the process gives rise to the release of thyroid hormones, creating a transient hyperthyroid state (Hashimoto thyrodoitis) as seen in our case. When this process is complete, hypothyroidism becomes apparent. ,
Immune-mediated diabetes usually presents with classic triad of polyuria, polydipsia, and polyphagia along with weight loss. Paresthesia in the extremities may be present at presentation, Rapid development of insulin deficiency could result in DKA as the initial presentation of type-1 DM. Abdominal pain, nausea, and vomiting are common in DKA, along with above symptoms as presented in our patient.
The most striking physical sign of pernicious anemia is pallor; however it was ruled out as MCV was normal. Vitiligo and autoimmune alopecia were not found in our patient. Other associated autoimmune disorders with PGS type-III are celiac disease, hypogonadism, myasthenia gravis, sarcoidosis, rheumatoid arthritis, inflammatory bowel disease, gastric carcinoid, and hepatitis-C. ,
Medical care of patients with PGS type-III includes monitoring of glandular functions for early detection of glandular failure, lifelong hormone replacement therapy (HRT) for established glandular failure or failures, and familial screening by serological tests for autoantibodies. Early HRT may decelerate the destruction of surviving tissue; but, at the late stage, complete organ atrophy is inevitable. Thyrotropin levels should be monitored to maintain a euthyroid state. Mutations in the HLAD gene should be analyzed in patients with PGS type-III and in siblings with symptoms of component glandular diseases.
Many a times we come across cases of type-1 DM, hypothyroidism, and hyperthyroidism and we treat them without looking for other endocrine gland abnormality. The case we describe has important features like glandular failure progressed slowly, and treatment strategies must include rapid recognition and collaboration with experienced clinicians to facilitate specialized treatment protocols.
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[Figure 1], [Figure 2]