Endocrine - Sex Chromosome + Inborn Errors of Metab Flashcards
DIsorders r/t Sex Chromosomal Abnormalities
1 Turner Syndrome
2 Klinefelter Syndrome
Turner Syndrome
girls have missing or partial absence of one X chromosome
Turner Syndrome
manifestation
varies widely, may not be diagnosed until lack of onset of menstruation**
- short stature
- infertility
- no secondary sex characteristics
- neck webbed + shorts
Turner Syndrome may present w….
coarctation of the aorta
Turner Syndrome
diagnosis
karyotype is definitive
Klinefelter Syndrome
males born w extra X chromosome
assoc w androgen deficiency, infertility, + tall stature
Klinefelter Syndrome is often detected w…
delayed puberty
Inborn Errors of Metabolism [3]
1 Phenylketonuria
2 Galactosemia
3 Maple Syrup Urine Disease
Inborn Errors of Metabolism is inherited biochemical abnormalities of….
- urea cycle
- amino acid
- organic acid metabolism
Inborn Errors of Metabolism is often detected by…..
newborn screenings before onset of symptoms
Phenylketonuria
autosomal recessive inherited disorder of amino acid metabolism
»affects the body’s ise of protein
»lack of phenylalanine hydroxylase enzyme
Phenylketonuria screening
require by law
>done shortly after first feeding
Phenylketonuria
manifestations
- *musty odor to urine**
- growth failure
- freq vomiting
- blue eyes, fair skin, light blonde hair
Phenylketonuria
prognosis
excelling w low phenylalanine diet
Galactosemia
deficient in galactose liver enzyme
if Galactosemia diagnosis is not made at birth…
causes irreversible cirrhosis + intellectual disability
|»_space;death w/in 1 month w/o treatment
Galactosemia
treatment
lactose/galactose free diet for life
Maple Syrup Disease
leucine, isoleucine, + valine cannot be metabolized
Maple Syrup Disease
manifestation
w/in 5-7 days,
presents w poor sucking, irreg resp, rigidity, +
ketosis + urine that smells like maple syrup
Maple Syrup Disease
prognosis
can be fatal but normal outcome is possible w early tx
