Endocrine Disorders (Part 1) - Unit 3 Flashcards
The endocrine system controls and manages _____. What else?
Metabolism, along with energy production, growth, fluid and electrolyte balances, stress response (hey hey cortisol), reproductive system
Many hormones depend on other hormones for their release. T/F?
True
What are some hormones that don’t rely on others for their release?
Insulin, glucagon, parathyroid, antidiuretic, aldosterone, etc.
Aldosterone —- decreased potassium — increased Na+, H20 - T/F?
True
What are the two lobes of the pituitary gland?
Anterior and posterior
What does the anterior pituitary do?
Master gland! Stimulation and inhibition of tropic hormones.
What does the posterior pituitary do?
Secretes ADH and oxytocin
How many hormones does the pituitary secrete?
9 vital hormones
Hypopituitarism - what is it?
Absence or decreased secretion of pituitary hormones
What can hypopituitarism lead to?
Gonadotropin deficiency, growth hormone deficiency, TSH deficiency, corticotropin deficiency
What are some causes of hypopituitarism?
1 = tumors that are typically easy to treat (vision changes, too!), encephalitis, radiation, head trauma (especially to the base of skull), congenital hypoplasia
Starvation also effects pituitary gland - T/F?
True - girls with anorexia can have this disease, too.
Growth failure is an absolute heigh of __ standard deviations for age OR a linear growth velocity consistently less than __ standard deviation for age.
1.
What’s the difference between short stature and growth failure?
SS = they were always short.
Growth failure = they were fine and suddenly stopped growing.
Growth hormone deficiency is frequently associated with other pituitary hormone deficiency, mainly……
TSH and ACTH
Most children who have short stature have growth hormone deficiency. T/F?
FALSE - most is idiopathic.
What are some clinical manifestations of hypopituitarism?
Normal growth during the 1st year, then growth that slows to below the 3rd percentile, affects height more than weight (may look overweight!), normal skeletal proportions, premature aging (fine wrinkles around eyes!), lack of growth directly related to degree and length of hormone deficiency
Why would a child with GH deficiency have teeth that look like they’re all jam packed in there?
The jaw isn’t growing properly, so the teeth are all crowded.
Skeletal survey in children under age ___.
Bone age study in children over _____.
What about bone age study?
3 & 3
Hand-wrist centers are looked to determine ossification, delayed in hypopituitarism but consistent with growth delay.
Hypopitutiarism - definitive diagnosis is based on absent or decreased pituitary reserves. T/F?
We can just get it from one sample? T/F?
What levels are used?
True
FALSE - we cannot.
We use IGF 1
GH secretion - stimulated by being awake. T/F?
FALSE - stimulated by sleep.
How do we treat hypopituitarism?
Treat any underlying causes, growth hormone replacement (synthetic), 6-7 times per week and it’s a SC injection that’s super fucking expensive.
When do we give growth hormone? Stop? (Ages)
boys start 12-13 and stop ~16.
Girls start 12-13 and stop 14-15
What was Turner’s Syndrome originally called?
Ovarian dysgenesis
Turner’s Syndrome - What is it? __ XO (#) Missing what?
45 XO - missing part or whole X chromosome
Turner’s Syndrome - normal growth until the age of ___.
3
Turner’s - no delay of sex characteristics. T/F?
FALSE - there is.
How do we manage Turner’s syndrome?
Growth hormone, estrogen (age 10-12)
What are some clinical manifestations of turner’s syndrome?
Webbing on the neck, short stature, low hairline, shield shaped thorax, widely spaced nipples, shortened metacarpal IV, small fingernails, brown spots, skin fold, constriction of aorta, poor breast development, elbow deformity, rudimentary ovaries, no menstruation
What is klinefelter syndrome? __ XXY
47 XXY - elongated lower limbs, sterility, managed with testosterone. Boys have poor beard growth, no early puberty, more cognitive issues, etc.
What are inborn errors of metabolism?
Large class of genetic metabolic diseases usually inherited as autosomal recessive.
Inborn errors of metabolism - genetic mutations lead to ineffective or absent enzymes that interrupts the pathway resulting in by product accumulation. T/F?
True
Inborn errors of metabolism - synthesis or breakdown of __, __, and/or ___ are affected.
Fats, carbs, protein
Inborn errors of metabolism - doesn’t lead to death if untreated. T/F?
FALSE - it can.
How do we diagnose Inborn errors of metabolism?
newborn screening - specific lab tests, too - blood, urine, tissue bx, DNA testing - PKU, sickle cell, CF, maple syrup urine disease - all tested for.
What are common signs of Inborn errors of metabolism?
Developed delay/failure to thrive, irritability and seizures, lethargy and poor feeding, protein or carb sensitivities, temperature regulation difficulties, hyop/hyperglycemia, vomiting and/or diarrhea, abnormal color, hepatic issues, apnea/bradycardia, hepatic encephalopathy.
How do we manage Inborn errors of metabolism?
Amino acids or enzyme cofactors for metabolic deficiencies (arginine), dietary modification (NO PROTEIN AND CARBS IN DIET), may need to have treatment for hypoglycemia/acidosis, genetic counseling, etc.
Autosomal recessive - if both parents are, that means what for pregnancy?
Each chance of pregnancy resulting in a 25% chance of a kid with the disorder
PKU - is it autosomal recessive disease?
YES
What is PKU?
Phenylketonuria - absence of phenylalanine hydoxylase - an enzyme needed to metabolize amino acid phenylalanine which turns phenylalanine to tyrosine.
What does PKU result in?
Results in accumulation of phenylalanine in blood and phenyl acid in urine
Phenylpyruvic acid leads to __ odor of urine.
Musty (phenylketonuria)
PKU - does it cause CNS issues?
Yes
Classic PKU - worst?
Does PKU affect catecholamines?
YES & YES
What characteristic is tyrosine responsible for?
Formation of melanin + epinephrine
What are some manifestations of PKU?
Musty odor to urine/skin/hair/sweat (due to excretion of phenylpyruvic acid), progressive damage to the developing brain (intellectual disability, irritability/seizures/CP), growth failure, decreased melanin, fair skin/hair, eczema
Can an infant with PKU be breast fed?
Yes - there is a low phenylalanine count in breast milk, but levels need to be closely monitored.
How do we manage PKU?
Screening all newborns, possible second screening at 2 weeks, restricted phenylanine diet (dietary protein restriction, no meat/dairy/dry beans/nuts/eggs, need supplements)
What is galactosemia?
Autosomal recessive disorder from genetic mutations that leads to enzyme deficiencies affecting the conversion of galactose into glucose.
Galactosemia - can they breastfeed?
NO
Galactosemia - metabolites of galactose and fructose are toxic to tissues (Yes or no) and can cause what?
YES.
Galactosuria, jaundice, hypotonia, lethargy
Galactosemia - not at all worried about brain. T/F
FALSE
how do we diagnose galactosemia?
presenting symptoms, increased levels of galactose in the blood/urine, decreased uridine diphosphate-galactose transferase in blood
How do we manage galactosemia?
All milk and lactose containing formula is eliminated, lactose-free formula is used, as the child ages they should only consume foods low in galactose, monitor for complications (hypoglycemia, liver failure, bleeding disorders - - - LIVER LIVER LIVER!)
DI - ADH Level, Blood (concentrated or dilute?), Urine (dilute or concentrated?)
DI - not enough ADH, concentrated Blood, dilute urine
SIADH - ADH Level, Blood (concentrated or dilute?), Urine (dilute or concentrated?)
ADH = too much, dilute blood, concentrated urine
SIADH & DI - opposites?
YES
Where’s the fluid? SIADH it’s inSIde the body, DI - it’s in the potty! T/F?
TRUE
What is osmolality?
measure of concentration in the body
Fluid flows to areas of high osmolality. T/F?
TRUE
What are the normal osmolality values of blood? Urine?
Blood = 280 Urine = 300
ADH - what does it do?
Antidiuretic hormone - it stops urination. At the kidney, it attaches to receptors in the collecting ducts, opens up water channels. Allows renal collecting ducts to become more permeable to water (for water conservation, urine concentration, decreased urine output, etc.)
