Disorders of the Immune System and Genetic Disorders

Question 1

Hyperthyroidism, Exopthalmos, Weight loss, insomnia, anxiety, tremors, goiter

Answer 1

Grave’s (Hyperthyroidism) (elevated T3 and T4)

Question 2

Females, BUTTERFLY RASH on face “MALAR”, red, wolf, systemic, arthralgia

Answer 2

SLE “Lupus”

Question 3

DRY eyes, dry mouth, Arthritis

Answer 3

Sjogren’s Syndrome (associated with RA)

Question 4

Chronic progressive, thickening of the skin, CREST SIGN: Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly, Telangiectasia

Answer 4

Scleroderma aka pss (Progressive Systemic Sclerosis)

Question 5

What does the CREST sign stand for in a Scleroderma?

Answer 5

Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly, Telangiectasia

Question 6

mother>40 years, die by 40-50 years old, most common chromosomal disorder, alzheimers

Answer 6

Trisomy 21 aka Down’s Syndrome

Question 7

XO infantile female, secondary sexual characteristics, 45X. Neck webbing, Loss of one X chromosome

Answer 7

Turner’s Syndrome aka Bonnevie-Ullrich

Question 8

XXY male, small testes, possible mental deficiency (47), most common cause of male sterility

Answer 8

Klinefelter’s Syndrome

Question 9

Thymic hypoplasia, T Cell immunodeficiency

Answer 9

DiGeorge Anomaly