Signs - Brisk tendon reflexes, fine tremor, proximal weakness, stare and eyelid lag, exophthalmos, atrial fibrillation, and sinus tachycardia
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
Weight loss, steatorrhea, bloating, cramping, and malnutrition
Pallor, jaundice, ataxia, glossitis, impaired cognition, impaired vibratory and position sense, and impaired cognition
Other disorders associated with PGA-II
Hypogonadism (usually autoimmune oophoritis) and hypopituitarism
Idiopathic thrombocytopenic purpura
Kearns – Sayre syndrome
Cong . Rubella
Serum autoantibodies screen
Thyroid peroxidase (TPO)
Thyroid-stimulating immunoglobulins (TSI)
Glutamic acid decarboxylase and islet cells
Antitissue transglutaminase antibodies
Immunoglobulin-A (IgA) endomysial antibodies and antigliadin antibodies.
Parietal cell and anti-intrinsic factor antibodies
Gonadotropins [FSH], [LH]) and appropriate sex hormones (testosterone, estradiol)
TSH, free thyroxine (T4), and free triiodothyronine (T3)
Adrenocorticotropic hormone (ACTH) level and Cortrosyn-stimulation test
Plasma renin activity and serum electrolytes
Calcium, phosphorus, magnesium, and albumin
Fasting blood glucose
Complete blood count (CBC) with mean cell volume (MCV) and vitamin B-12 levels
With the exception of celiac disease and Graves disease, the mainstay of treatment is primarily hormonal replacement therapy
T4 therapy can precipitate adrenal crisis if adrenal insufficieny is present. So before starting thyroid hormone patient should be screened for adrenal insufficiency and if present should be treated with glucocorticoids.
A decreasing insulin requirement in patients with type 1 diabetes mellitus can be one of the earliest indications of adrenal insufficiency or renal dysfunction. This can occur before the development of hyperpigmentation or electrolyte abnormalities.
Hashimoto's thyroiditis (Hashimoto's disease)
aim is to achieve euthyroidism.
Thyroid-stimulating hormone (TSH) is used to assess the level of euthyroidism. After 6 weeks of therapy, measure plasma TSH. Adjust the dose in increments of 12-25 mcg at intervals of 6-8 weeks until TSH is normal. Thereafter, annual measurements can be taken to ensure compliance and prevent overtreatment.
Type 1 diabetes mellitus
It requires lifelong treatment with exogenous insulin.
A roughly estimated dose for otherwise healthy individuals is approximately 0.6-1.2 U/kg/d (35-50 U/d in adults)
Replacement with cyanocobalamin is the goal of therapy.
A typical schedule is 1 mg IM once a day for 7 days, and then weekly for 1-2 months or until the hemoglobin is normalized. Long-term therapy is 1 mg/mo.
Symptomatic hypokalemia may occur within 48 hours of initiating therapy, and supplemental potassium may be needed
Antithyroid medications in older patients (>60 y) or in those with underlying heart disease. When euthyroidism is achieved, radioactive iodine is then administered.
Ablation by radioactive iodine administration is the therapy of choice by most patients (young and healthy).
The restoration of euthyroidism using antithyroid drugs takes several months. Patients are evaluated at 6-week intervals by assessing the clinical findings and serum free T4 and free T3.
Hydrocortisone and fludrocortisone.
Adjust the hydrocortisone dose depending on patient's symptoms. Monitor the activity levels of plasma renin to assess the efficacy of treatment with fludrocortisone and serum electrolytes.
Place patients on a gluten-free diet.
Depending on the degree of malabsorption, patients also may require iron, folate, calcium, or vitamin supplementation.
In patients whose conditions are severe or refractory, a trial of prednisone (10-20 mg) may be effective.
Screening of patients every 1-2 years, until they are aged 50 years.
Screening includes an assessment of autoantibodies, electrolytes, thyroid function tests, liver function tests, vitamin B-12 levels, Cortrosyn-stimulation test, fasting blood glucose, plasma renin activity, CBCs, gonadotropins, and testosterone/estradiol.
Family members should be strongly considered for genetic counseling and should undergo necessary screening for autoimmune diseases.
Polyglandular autoimmune syndrome type I (PGA-I)
Autosomal recessive pattern, with variable inheritance