Module 12 Part 1
Down Syndrome: Genetic
Down Syndrome: What type of disorder?
Physical & mental disorder
Down Syndrome: what causes increase risk?
As female gets older
Down Syndrome: S/s
-small head, flat face, short stature,
-Slanted eyes, simian crease,
-Heart defect(atrioventicular canal defect AVC)
Down Syndrome: What cancer is a predisposition?
Klinefelter Syndrome: Genetic
Extra "X" chromosome
Klinefelter Syndrome: S/s
Tall, Gynocomastia, less facial hair, increase risk for breast CA
Klinefelter Syndrome: What hormone is affected?
Klinefelter Syndrome: Tx
Testosterone replacement therpy
Turner Syndrome: Genetics
Missing an "X" Chromosome
Turner Syndrome: S/s
-No breast development, widely spaced nipples
-Webbed neck, No or irregular menstruation
-Coarctation of Aorta: high BP in arm, low BP in leg
Turner Syndrome: Hormones involved & how they are affected
Turner Syndrome: Tx
Hormone therapy GH & Estrogen
Growth Hormone: What organ produces it? What does it do?
Anterior Pituitary Gland
Liver: Protein synthesis, glucogenesis
Muscle: protein synthesis, amino acid uptake, low glucose uptake
If Pt took GH exogenously what would happen?
increase blood glucose
increase bone & tissue growth
Gigantism & Acromegaly: What?
Excess GH, excess Glucose
Gigantism: before close plates
Acromegaly: after close plates
Gigantism & Acromegaly: Causes
Gigantism & Acromegaly: S/s
-Hyperglycemia- prediabetic state
GH inhibits peripheral glucose uptake
GH increase hepatic glucose production
Gigantism & Acromegaly: Testing
GH and CT
Gigantism & Acromegaly: Tx
Remove pituitary adenoma
Meds block GH
Dwarfism: Achondroplasia vs Primordal Dwarfism
Achondroplasia: w/o carrtilage, large head, Problem w/ ossification, Chromosome 4 Autosomal Dominant
Primordal Dwarfism: Small body size in all stages from birth, Autosomal Recessive