A Case of Schmidt Syndrome

A Case Of ASTHENIA

Prof.Dr.G.Sundaramurthy’s unit.Dr.B.Gowri shankar.PG M5

Mrs. Y, 47 yrs/F C/O - Giddiness - Gen weakness x 2 mo

HOPI:- H/O giddiness aggr. by upright posture + H/O Easy fatiguability + H/O Headache + H/O palpitations +/sweating + H/O Abdominal pain(Epigastric) H/O Vomiting +

Contd.,

H/O increased pigmentation + H/O Insomnia +

H/O low back pain +No H/O FeverNo H/O Cough/Chest painNo H/O LOC/ Seizures No H/O Visual disturbanceNormal bowel & bladder habits

Contd.,

H/O increased pigmentation + H/O Insomnia +

H/O low back pain +No H/O FeverNo H/O Cough/Chest painNo H/O LOC/ Seizures No H/O Visual disturbanceNormal bowel & bladder habits

Past History:No H/O DM, SHTNo H/O TB, CAD, CVA,Seizures

Menstrual History:Attained menarche @ 14 YrsHad irregular periodsAttained menopause @ 30 Yrs

Family History:

Treatment History:

Had taken medications for thyroid disorders ? hypothyroidism,

stopped now.

General Examination :Conscious,Oriented,AfebrileComfortable at restPALLOR +, Hyperpigmentation +Not jaundiced,cyanosed,clubbingNo SGLA,PE.

Vitals:HR-96 bpmBP-90/60 mmHgBP-84/50( Standing)RR-18 bpm

Systemic Examination:

CVS: S1 S2 heard. No murmur RS: NVBS, BAE. P/A: Soft, No organomegaly Epigastric tenderness CNS: NFND

Fundus-Normal

Investigations:Hb 7.8 8.2

TC 6800 5600

DC P68L30E2 P56L44

ESR 10/22 22/36

Platelets 1.8 2.2

RBS 79 58

Bl.Urea 31 20

Sr.Creatinine 0.9 0.7

Sr.Electrolytes

Sr.Na 122 128

Sr.K 3.8 3.6

Sr.HCO3 20 22

Sr.Cl 112 109

Contd., Urine R/E-

Proteins-NilSugar-NilDeposits-Occ. Pus cells

Urine C/S- No Growth

CXR- Normal studyECG-WNL

USG ABDOMEN:Liver 11 cm ,increased homogenous

echotexture. GB & PANCREAS –Normal.Spleen 7.5 cm Kidneys- Right- 9.4 cm x 3.8 cm

- Left - 9.0 cm x 3.8 cm (single cortical cyst 1.0 x 0.8) - Normal PCS & CMD +

No free fluid abdomen

IMPRESSION: FATTY LIVER & LEFT CORTICAL CYST

Contd.,T3-75(77-207)T4-7.8(4-11)TSH-20.4(0.4-6.0)

LFT - NormalSr.Calcium- 8.4 mgSr.Phosphorus-5.5 mgSr.Uric acid-3.1 mg

Systemic Examination:

Contd.,

ASO- NegativeANA- NegativeRF - NegativeCRP - 6 mg/ml

LH- 52.89 mIU/ml(15-54)FSH- 138.72 mIU/ml(23-116)

ACTH- 664 pg/ml(9-52 )

Contd.,

Sr.Estradiol-28 pg/ml(<59)

TPO- 55.30 IU/ml( < 35 ) Sr.Prolactin-8 ng/ml(<29)

PTH- 15.31 pg/ml(15-65)C-Peptide- 2.14 ng/ml (0.48-5.05)

Contd.,

Peripheral SmearStudy –Normocytic hypochromic anemia

VDRL- NegativeHIV - Negative

HBSAg- Negative Anti-HCV- Negative

Contd.,

USG NECK- Normal CT Abdomen- Normal study ECHO- Normal study

MRI SPINE:-1. Degenerative anterolisthesis of L4

vertebral body on L5(Grade 1)2. Lumbar inter vertebral disc dessication

changes.3. Diffuse disc bulge with sac indentation &

B/L neural foraminal narrowing at L4-L5 & L5-S1 inter vertebral discs.

4. Haemangioma-T10 vertebral body.

RHEUMATOLOGY OPINION:Spina bifida L5 S1Spondylolisthesis L1

ORTHO OPINION:IFT, LS Belt, Analgesics

OGD & BIOPSY:(DONE OUTSIDE)Chronic atrophic gastritis

ENT OPINION:EAR-Retracted TM on LEFT side.NOSE- Septum deviated to LEFTTHROAT-Normal

OPHTHAL OPINION:Conjunctiva & Cornea clearAC normal depthRight eye-Immature cataract +

FUNDUS:-RE- Media hazy due to lens changes Disc & vessels normal Macula FR absentLE-Media clear Disc & vessels normal Macula FR absent

DENTAL OPINION:A case of chronic destructive periodontitis.Hard tissue calculus + +Stains + +

Soft tissue:-Chronic generalised diffuse gingivitisBleeding on probing

PROBLEMS:-Adrenal insufficiency-Hypothyroidism-Hypogonadism-Anemia-Atrophic Gastritis-Renal cortical cyst-Spondylolisthesis

DIFFERENTIAL DIAGNOSIS

-Polyglandular syndrome type 1 -Polyglandular syndrome type 2-Polyglandular syndrome type 3-IPEX syndrome

DIAGNOSIS:

POLYGLANDULAR SYNDROME-TYPE 2

(SCHMIDT’S SYNDROME)

Management:-Hydrocortisone-Fludrocortisone-Eltroxine-Ranitidine-Calcium-BCT

Polyglandular autoimmune syndrome type II (PGA-II)

Most common of the immunoendocrinopathy syndromes. Autoimmune Addison’s disease Thyroid autoimmune diseases Type 1 diabetes mellitus Primary hypogonadism, myasthenia gravis, and celiac disease

The most frequent clinical combination association is Addison’s disease and Hashimoto’s thyroiditis

Middle-aged women, -around the 3RD and 4TH decade -HLA-DR3 and/or HLA-DR4 - AD with variable penetrance

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

Hashimoto’s thyroiditis (chronic lymphocytic thyroiditis) • Symptoms - cold intolerance, fatigue, somnolence,

poor memory, constipation, menorrhagia and hoarseness • Signs - Slow tendon reflexes, bradycardia, facial and

periorbital edema, dry skin and nonpitting edema and pericardial or pleural effusions.

Graves disease • Symptoms - Heat intolerance, weight loss, weakness,

palpitations, oligomenorrhea, and anxiety • Signs - Brisk tendon reflexes, fine tremor, proximal

weakness, stare and eyelid lag, exophthalmos, atrial fibrillation, and sinus tachycardia

Type 1 diabetes mellitus • Symptoms - Polyuria, polydipsia, polyphagia,

unexplained weight loss and lethargy • Signs - Depend on the severity; consist of poor skin

turgor, orthostasis, and hypotension

Celiac disease :

-Weight loss, steatorrhea, bloating, cramping, and malnutrition

Pernicious anemia:

-Pallor, jaundice, ataxia, glossitis, impaired vibratory and position sense and impaired cognition

Other disorders associated with PGA-II

• Hypogonadism (usually autoimmune oophoritis) and hypopituitarism • Idiopathic thrombocytopenic purpura • Myasthenia gravis • Parkinson’s disease • Vitiligo • Alopecia

Laboratory Studies: Serum autoantibodies screen

– 21-hydroxylase – 17-hydroxylase – 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 sex hormones (testosterone, estradiol) -TSH, free T4 and free T3 -ACTH level and Co-syntropin-stimulation test -Plasma renin activity and serum electrolytes -Calcium, phosphorus, magnesium, and albumin -Fasting blood glucose -CBC with mean cell volume (MCV) and vitamin B-12 levels

MANAGEMENT:

MEDICAL:-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.

-Hashimoto’s thyroiditis • aim is to achieve 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.

–Pernicious anemia • A typical schedule is 1 mg cyanacobalamin 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

American Journal of the Medical Sciences: CASE REPORT: Southwestern Internal Medicine Conference: Polyglandular Autoimmune Syndromes LESHIN, MARK MD

Abstract• The principal endocrine components of these syndromes are

adrenal insufficiency, autoimmune thyroid disease, insulin-dependent diabetes mellitus, and premature gonadal failure. In addition, primary hypoparathyroidism is a key feature of one form of polyglandular autoimmunity that occurs in children. Several nonen-docrine organ-specific autoimmune disorders are also associated of which pernicious anemia is the most frequent. The underlying abnormality responsible for polyglandular autoimmunity is most likely a defect in T suppressor cell function, but there is evidence that aberrant expression of HLA DR antigens also plays an important role in the pathogenesis of these disorders.

American Journal of the Medical Sciences: June 2011 - Volume 341 - Issue 6 - pp 504-507

Case Report Autoimmune Polyglandular Syndrome Type 2 Induced by Treatment With Interferon Alpha

Krysiak, Robert MD, PhD; Boldys, Aleksandra MD; Okopien, Boguslaw MD, PhD

Abstract Interferon α therapy has been reported to result in a variety of autoimmune side effects and to increase the risk of thyroid dysfunction. In light of research carried out in recent years, it seems that autoimmune polyendocrine syndromes occur much more frequently than previously estimated. In this article, the authors describe autoimmune polyglandular syndrome type 2 composed of autoimmune thyroid disease, Addison's disease and premature ovarian failure in a 37-year old woman after treatment of hairy cell leukemia with interferon α.

Endocr Pract. 2007 Jan-Feb;13(1):59-62.

Nonischemic cardiomyopathy associated with autoimmune polyglandular syndrome type II.

Nielsen TD, Steenbergen C, Russell SD.

Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

OBJECTIVE: To report a case of nonischemic cardiomyopathy associated with autoimmune polyglandular syndrome type II (APS-II).RESULTS: Although numerous other autoimmune conditions have been reported in conjunction with APS-II, cardiomyopathy has not been previously described as part of this syndrome. The current patient was a 32-year-old man who, during a 5-year period, was diagnosed as having type 1 diabetes mellitus, In 2001, he presented with severe heart failure that progressed rapidly and eventually necessitated cardiac transplantation.•PMID: 17360303 [PubMed - indexed for MEDLINE]

Polyglandular Autoimmune Syndrome (PGA) -Type 2 with Diabetic Ketoacidosis.

Summary

The authors report a rare case of a 5 yr old girl with type 2 autoimmune polyglandular syndrome, also called Schmidt syndrome, who presented with diabetic ketoacidosis (DKA) at admission. Pediatric Rheumatology Clinic, IPGMER Kolkata, Kolkata, India, rkm1971@indiatimes.com.

Journal Details Name: Indian journal of pediatrics

Polyglandular Autoimmune Endocrinopathy in Type 2Diabetes R Kumar*, DVS Reddy*, AG Unnikrishnan*, SK

Bhadada*, NK Agrawal**, SK Singh***

Abstract Polyglandular autoimmunity (PGA) type 2 presenting in childhood is extremely rare. We report a case of type 2 PGA who had hypothyroidism, followed by diabetic ketoacidosis and was later diagnosed to have adrenal insufficiency also.

© JAPI • VOL. 52 • DECEMBER 2004

BMJ Case Reports 2011; doi:10.1136/bcr.07.2011.4436

Treatment of polyglandular autoimmune syndrome type 3 using co-transplantation of insulin-secreting mesenchymal stem cells and haematopoietic stem cells

Hargovind L Trivedi,Umang G Thakkar,Aruna V Vanikar, Shruti D Dave

1Department of Nephrology and Transplantation Medicine, G. R. Doshi and K. M. Mehta Institute of Kidney Diseases and Research Centre (IKDRC)- Dr H. L. Trivedi Institute of Transplantation Sciences (ITS), Ahmedabad, Gujarat, India2Department of Pathology, Laboratory Medicine, Transfusion Services and Immunohematology, G. R. Doshi and K. M. Mehta Institute of Kidney Diseases and Research Centre (IKDRC)- Dr H. L. Trivedi Institute of Transplantation Sciences (ITS), Ahmedabad, Gujarat, India

Correspondence to Professor Hargovind L Trivedi.