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