Module 12 Part 1

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1

Down Syndrome: Genetic

Trisomy 21

2

Down Syndrome: What type of disorder?

Physical & mental disorder

3

Down Syndrome: what causes increase risk?

As female gets older

4

Down Syndrome: S/s

**ON EXAM**

-small head, flat face, short stature,

-Slanted eyes, simian crease,

-Heart defect(atrioventicular canal defect AVC)

5

Down Syndrome: What cancer is a predisposition?

ALL

6

Klinefelter Syndrome: Genetic

XXY

Extra "X" chromosome

7

Klinefelter Syndrome: S/s

Male only

Tall, Gynocomastia, less facial hair, increase risk for breast CA

8

Klinefelter Syndrome: What hormone is affected?

Low testosterone

9

Klinefelter Syndrome: Tx

Testosterone replacement therpy

Language therapy

10

Turner Syndrome: Genetics

Missing an "X" Chromosome

11

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

12

Turner Syndrome: Hormones involved & how they are affected

Low GH

High FSH

Low Estrogen

13

Turner Syndrome: Tx

Hormone therapy GH & Estrogen

14

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

Adipose: Lipoysis

15

If Pt took GH exogenously what would happen?

cartilage growth

increase blood glucose

increase bone & tissue growth

16

Gigantism & Acromegaly: What?

Excess GH, excess Glucose

Gigantism: before close plates

Acromegaly: after close plates

17

Gigantism & Acromegaly: Causes

Pituitary Adenoma

18

Gigantism & Acromegaly: S/s

-Hyperglycemia- prediabetic state

GH inhibits peripheral glucose uptake

GH increase hepatic glucose production

19

Gigantism & Acromegaly: Testing

GH and CT

20

Gigantism & Acromegaly: Tx

Remove pituitary adenoma

Meds block GH

21

Dwarfism: What?

GH Deficiency

22

Dwarfism: Achondroplasia vs Primordal Dwarfism

Genetics

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