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

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

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

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

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

SuperMasculinity RAM FOOTBALL, 2005

SuperMasculinity

SuperMasculinity – Slightly taller for most females and more aggressive

SuperMasculinity RAM Football Alumni, 2035

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

C.F.

C.F.

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??

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

Tay Sach’s Enlargement of the head

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

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

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

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

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