Chronic ConditionsChronic ConditionsGenetic/inheritedGenetic/inherited

CongenitalCongenitalMetabolicMetabolic

DegenerativeDegenerativeInfectiousInfectious

Klinefelter’s SyndromeKlinefelter’s Syndrome

Feminization due to Feminization due to extra X chromosomeextra X chromosome

Tall, small penis and Tall, small penis and testicles, testicles, underdeveloped underdeveloped secondary sex X-ersecondary sex X-er

Infertile, impaired Infertile, impaired learning abilitieslearning abilities

Management of K/SManagement of K/S

Hormone therapy; but fertility is NOT Hormone therapy; but fertility is NOT restored by testosterone therpayrestored by testosterone therpay

ii. Turner’s Syndromeii. Turner’s Syndrome

Occurs only in Occurs only in females (1 in 5,000) females (1 in 5,000) with absence of with absence of second X second X ChromosomeChromosome

Equivalency to Equivalency to Klinefelter’s – Klinefelter’s – infertility, diminished infertility, diminished secondary sex X-ersecondary sex X-er

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

hairline, droopy eyelidshairline, droopy eyelids

SuperMasculinitySuperMasculinity

RAM FOOTBALL, RAM FOOTBALL, 20052005

SuperMasculinitySuperMasculinity

SuperMasculinity – Slightly taller for SuperMasculinity – Slightly taller for most females and more aggressivemost females and more aggressive

SuperMasculinitySuperMasculinity

RAM Football Alumni, RAM Football Alumni, 20352035

Cystic Fibrosis (inherited)Cystic Fibrosis (inherited)

Affects children with 1 in 2,00 Births – life Affects children with 1 in 2,00 Births – life expectancy up to age 30 – important expectancy up to age 30 – important bodily functions are disrupted like bodily functions are disrupted like digestive enzymes – increased mucous digestive enzymes – increased mucous production and conservation of production and conservation of electrolytes. electrolytes.

Serious problems with respiration and Serious problems with respiration and digestiondigestion

C.F.C.F.

C.F.C.F.

Prevention, DX, MGTPrevention, DX, MGT

Usually Dx in children with combination of Usually Dx in children with combination of symptoms; poor growth, foul smelling stools, symptoms; poor growth, foul smelling stools, chronic coughing/wheezing, recurrent chronic coughing/wheezing, recurrent pneumonia, nasal polyps enlarged fingertips, pneumonia, nasal polyps enlarged fingertips, skin that has a salty taste.skin that has a salty taste.

Dx is through blood test – Incurable, life Dx is through blood test – Incurable, life shortening, special diets developed to support shortening, special diets developed to support weight and maintain growthweight and maintain growth

Needs respiratory therapy, inhaled antibiotics, Needs respiratory therapy, inhaled antibiotics, vaccines and drug combos - ??gene therapy??vaccines and drug combos - ??gene therapy??

Tay Sach’s Disease (inability to Tay Sach’s Disease (inability to metabolize fats)metabolize fats)

Rarest of genetic Rarest of genetic diseases – seen in diseases – seen in Eastern European Eastern European JewsJews

Tay Sach’sTay Sach’s

Enlargement of the Enlargement of the headhead

T.S.T.S.

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

Sickle Cell AnemiaSickle Cell Anemia

Abnormal hemoglobinAbnormal hemoglobin

More prominent in BlacksMore prominent in Blacks

Shortened life expectancy with Shortened life expectancy with

Periods of pain and impairmentPeriods of pain and impairment

Crescent shaped RBC unable to diffuse Crescent shaped RBC unable to diffuse through capillaries; body removes cells through capillaries; body removes cells which leads to anemiawhich leads to anemia

S.C.AS.C.A

Impaired lung Impaired lung function; Congestive function; Congestive heart failure; heart failure; gallbladder infections; gallbladder infections; bone changes, bone changes, abnormalities of skin abnormalities of skin and eyesand eyes

Px lives up to 50 Px lives up to 50 years of ageyears of age

Prevention/Dx/TreatmentPrevention/Dx/Treatment

Easily diagnosed with symptoms Easily diagnosed with symptoms appearing after two years of age via blood appearing after two years of age via blood testtest

MGT by physical and occupational therapyMGT by physical and occupational therapy

Disease is irreversableDisease is irreversable

If disease is found in woman, it is through If disease is found in woman, it is through genetic mutation and not inheritedgenetic mutation and not inherited

Congenital AbnormalitiesCongenital Abnormalities

Abnormalities present at birth due to tissue Abnormalities present at birth due to tissue changes during embryonic developmentchanges during embryonic development

Forms early in PG ranging in degree of Forms early in PG ranging in degree of severityseverity

Causes considered MULTI-FACTORAL – Causes considered MULTI-FACTORAL – genetics and environmentgenetics and environment