1. Genetic/inherited Congenital Metabolic Degenerative Infectious
Chronic Conditions
Genetic/inherited
Congenital
Metabolic
Degenerative
Infectious

2. Klinefelter’s Syndrome
Feminization due to extra X chromosome
Tall, small penis and testicles, underdeveloped secondary sex X-er
Infertile, impaired learning abilities

3. Management of K/S
Hormone therapy; but fertility is NOT restored by testosterone therpay

4. ii. Turner’s Syndrome
Occurs only in females (1 in 5,000) with absence of second X Chromosome
Equivalency to Klinefelter’s – infertility, diminished secondary sex X-er

5. Short Stature, Webbed Neck, Lack of Secondary Sex X-er, Hollow Chest, No menstruation, Low hairline, droopy eyelids

6. SuperMasculinity
RAM FOOTBALL, 2005

7. SuperMasculinity

8. SuperMasculinity – Slightly taller for most females and more aggressive

9. SuperMasculinity
RAM Football Alumni, 2035

10. Cystic Fibrosis (inherited)
Affects children with 1 in 2,00 Births – life expectancy up to age 30 – important bodily functions are disrupted like digestive enzymes – increased mucous production and conservation of electrolytes.
Serious problems with respiration and digestion

11. C.F.

12. C.F.

13. Prevention, DX, MGT
Usually Dx in children with combination of symptoms; poor growth, foul smelling stools, chronic coughing/wheezing, recurrent pneumonia, nasal polyps enlarged fingertips, skin that has a salty taste.
Dx is through blood test – Incurable, life shortening, special diets developed to support weight and maintain growth
Needs respiratory therapy, inhaled antibiotics, vaccines and drug combos - ??gene therapy??

14. Tay Sach’s Disease (inability to metabolize fats)
Rarest of genetic diseases – seen in Eastern European Jews

15. Tay Sach’s
Enlargement of the head

16. T.S.
Children may appear normal at birth, but signs of neurological abnormalities develop by age 6
Includes blindness, deafness, muscle atrophy, paralysis and inability to swallow
SYMPTOMS: Slurred speech, cramps, tremors and sometimes mental illness
Deaths usually occur around age 15 (lipids lodged in neural pathways of the brain

17. Sickle Cell Anemia Abnormal hemoglobin More prominent in Blacks
Shortened life expectancy with
Periods of pain and impairment
Crescent shaped RBC unable to diffuse through capillaries; body removes cells which leads to anemia

18. S.C.A
Impaired lung function; Congestive heart failure; gallbladder infections; bone changes, abnormalities of skin and eyes
Px lives up to 50 years of age

19. Prevention/Dx/Treatment
Easily diagnosed with symptoms appearing after two years of age via blood test
MGT by physical and occupational therapy
Disease is irreversable
If disease is found in woman, it is through genetic mutation and not inherited

20. Congenital Abnormalities
Abnormalities present at birth due to tissue changes during embryonic development
Forms early in PG ranging in degree of severity
Causes considered MULTI-FACTORAL – genetics and environment