Download August 25, 2011 - University of South Alabama Health System

Pediatric Board Review
Endocrine, Part 4
Anne-Marie Kaulfers, MD
Pediatric Endocrinology
University of South Alabama
August 25, 2011
Overview of calcium metabolism
Skin
UV light
D2 and D3
Liver
D2 and D3
25-OH Vit D
Kidney
1-alpha-hydroxylase
25-OH Vit D
1,25-OH Vit D
Gut
1,25 OH Vit D:
Pulls Ca and Phos from food into blood
Overview of calcium metabolism
Skin
UV light
Regulated by nutrition
D2 and D3
Liver
D2 and D3
Controlled by PTH
25-OH Vit D
Kidney
1-alpha-hydroxylase
25-OH Vit D
1,25-OH Vit D
Gut
1,25 OH Vit D:
Pulls Ca and Phos from food into blood
Recognize typical lab findings of
hypoparathyroidism
• Parathyroid hormone (PTH)
– Wants to keep blood calcium levels normal (PTH
couldn’t care less about the bones)
– Tells kidney to hold onto calcium and pee out Phos
– Tells kidney to make activated Vit D (1,25-OH Vit
D), which goes to the gut and gets the calcium
from your food and puts it into your blood
• Lab findings:
– Low PTH, Low Calcium, HIGH Phos
Signs and Symptoms of low Ca
• Chvostek’s sign
– Tap on cheekbone, and the upper lip will twitch
• Trousseau’s sign
– Hand spasm with prolonged BP cuff inflation
•
•
•
•
•
Perioral tingling
Seizures/Psychiatric changes
Papilledema, cataracts, tetany, laryngospasm
Prolonged QT interval on EKG
Low calcium with low phos = vitamin D deficiency
DiGeorge syndrome and low Ca
• Microdeletion of 22q11.2, detected on FISH
• CATCH-22
• Cardiac abnormalities (aortic arch, etc)
• Abnormal facies (small jaw, funky ears)
• Thymic aplasia (T-cell related infections)
• Cleft palate
• Hypocalcemia (no parathyroid gland, so have
low Ca, HIGH Phos, low PTH)
Recognize a child with
Pseudohypoparathyroidism
•
•
•
•
•
•
Resistance of kidney to PTH
(You can make PTH but you can’t use it)
Low Ca, HIGH Phos, but also HIGH PTH
Type 1A is the most common
You inherit this defect from mom
Also have resistance to other hormones
– High TSH, ACTH, LH, and FSH
Recognize a child with
Pseudohypoparathyroidism
•
•
•
•
Won’t have low calcium until after age 3 years
Seizures in elementary school
Subcutaneous calcifications
Will look fine until after age 1 year, then will
develop: Short stature, obesity, round face,
bad teeth, short fingers and toes, joint
problems – bowleg, can have MR
• “Albright Hereditary Osteodystrophy”
Causes of low Ca in neonate
In first 2 days of life:
• Preemies
• Infants with birth
asphyxia/sepsis
• Infant of a diabetic
mother
– Large for gestational age
– Low blood sugar
After first week of life:
• High Phosphate load
• Low Magnesium
• Mom’s
hyperparathyroidism
turning off neonatal
PTH secretion (check
moms PTH level)
• Neonatal
Hypoparathyroidism
X-linked (familial) hypophosphatemic
rickets: clinical and lab findings
• Bow-legged!!!
• Poor growth, bad teeth
• Problem: the kidney pees out too much
phosphorus and kidney is never told to make 1,25
OH Vitamin D (aka calcitriol)
• Remember – PTH is only sensitive to calcium
• Labs: normal calcium, therefore normal PTH
• Labs: low Phos and high Alk Phos
• Rickets on Xray
X-linked (familial) hypophosphatemic
rickets: treatment
• Phosphorus (Neutra-Phos)
• (Cholecalciferol/Ergocalciferol/Calcidiol are all
names of Vitamin D3 or D2, aka 25-OH D)
• 1,25 OH Vitamin D (aka calcitriol)
– This goes to the gut and takes the calcium and
Phos from your food and puts it into your blood
• Routine monitoring:
– Renal U/S looking for stones (from too much Ca)
– Serum Alk Phos, goal is to normalize levels
General Causes of Rickets
25-OH
Vit D
1,25-OH Calcium
Vit D
Phos
Alk
Phos
Vitamin D Deficiency
(nutritional)
↓
↑
Vitamin D dependent
rickets Type 1,
1 alpha - hydroxylase def
(can’t make 1,25 OH Vit D)
↑
↑
Vitamin D dependent
rickets type 2, aka Vitamin
D resistant rickets, aka
(resistant to 1,25-OH Vit D)
↑
↑
↑
X-linked (famlial) hypophosphatemic rickets
Renal disease
PTH
↑
↑
Nl
General Causes of Rickets
25-OH
Vit D
1,25-OH Calcium
Vit D
Phos
Alk
Phos
PTH
Vitamin D Deficiency
(nutritional)
↓
NL/↑/↓
↓
↓
↑
↑
Vitamin D dependent
rickets Type 1,
1 alpha - hydroxylase def
(can’t make 1,25 OH Vit D)
↑
↓
↓
↓
↑
↑
Vitamin D dependent
rickets type 2, aka Vitamin
D resistant rickets, aka
(resistant to 1,25-OH Vit D)
NL
↑
↓
↓
↑
↑
X-linked (famlial) hypophosphatemic rickets
NL
NL
NL
↓
↑
NL
Renal disease
NL
↓
↓
↑
↑
↑
General Causes of Rickets
• Vit D Deficiency (nutritional): 25OH D is your
body’s stores of Vit D. Your liver gives it to the
kidney and it gets activated, then it goes to
the gut and takes the calcium and phos out of
your food and gives it to the blood. So
without 25OH, you can’t activate very much,
so the blood levels of Ca and Phos stay low.
Because Ca is low, PTH goes up.
General Causes of Rickets
• Vitamin D Dependent Rickets Type 1, or 1
alpha hydroxylase deficiency: You can’t make
1,25 OH D, but your bones are sick and
hurting so it keeps trying. It stores all the
25OH D that it can, but none of it can get
activated, so the 25 OH D levels are high, and
1,25OH D levels are low. You have no
activated D to get the Ca and Phos out of your
gut and into your blood, so the Ca and Phos
levels are low. Because Ca is low, PTH goes up.
General Causes of Rickets
Vitamin D dependent rickets type 2, aka
Vitamin D resistant rickets, aka (resistant to
1,25-OH Vit D): These kids have alopecia
areata, weird. Anyway, you can store 25-OH D
fine, and your kidneys can activate it into 1,25
OH D, but your gut won’t recognize it. So you
get high levels of 1,25 OH D, but the Ca and
Phos can’t get out of your gut and into your
blood, so the blood levels of Ca and Phos are
low. Because Ca is low, PTH goes up.
Signs and Symptoms of Hypercalcemia
• Bones, groans, and stones
• Weakness, fatigue, decreased appetite,
nausea, vomiting, constipation (abd pain)
• Polyuria and polydipsia
• Prolonged: can lead to kidney stones, arms
and legs and back pain
• Can happen after prolonged immobilization,
too much vitamin A or D, gramulomatous dz
Hypoglycemia in a Young child
•
•
•
•
•
Normal healthy 2-8 year old child
Has symptomatic low blood sugar
Responds easily to IV or oral dextrose
Diagnosis: Idiopathic ketotic hypoglycemia
Test: Check urine for ketones
Hypoglycemia in a young child
• Most common cause: ketotic hypoglycemia
• Other causes/tests:
– High insulin but low C-peptide: got an insulin shot
– High insulin and high C-peptide: has an insulin tumor
or ate grandma’s sulfonylurea medicine
– (Insulin turns off ketones, so a positive urine test for
ketones means that insulin levels are not too high)
– Proinsulin: Tells you nothing
– Cortisol or growth hormone deficiency
Natural History of type 1 Diabetes
• At diagnosis, still have 20% of beta cells
– But they are sick (glucose toxicity prevents them
making insulin)
• After a few weeks, these 20% “wake up”
• All blood sugars look stable for next weeks to months
to a year: the Honeymoon period. Diabetes seems to
be “in remission”, patient may think they are cured.
• Then these 20% of insulin cells finally die off – and
blood sugars start to get really high, really fast
Clinical Example
• At diagnosis: A1c is 12%, all BG in hospital are
200’s to 500’s
• 3 months later: All BG are between 60 and 90
mg/dl, even when they drink coke or juice or eat
candy or skip shots, A1c is under 6%, patient only
needs small amount of insulin
• 6 months later: A1c is 12%, all BG are 200’s to
500’s – honeymoon is over. Increase the insulin
doses to normal. STOP DRINKING SWEET TEA
Type 1 diabetes
Screening guidelines
• Hypothyroidism (Chronis Lymphocytic
Thyroiditis, or Hashimoto’s disease)
– TSH every 2-3 years after diagnosis
– Weight gain and fatigue
– 10% of all kids with type 1 diabetes
• Celiac Disease
– TTG antibody at least once after diagnosis
– Weight loss, poor growth, big liver
– 5% of all kids with type 1 diabetes
Type 1 diabetes mellitus
Long Term complications
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•
•
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Hemoglobin A1c: average BG over 3 months
Microvascular: Retinopathy and Nephropathy
Neuropathy: Peripheral and autonomic
Macrovascular: CAD, stroke, PVD
How to prevent these:
– Good glycemic control
– Blood pressure control
– No smoking
Basal/Bolus Insulin Dosing
• Basal: insulin needs when you aren’t eating
– Lantus (Glargine)
• Bolus: insulin to cover carbohydrates
– Humalog (Lispro), Novolog (Aspart)
• Half the daily dose is basal, half is bolus
• Insulin pump: uses only Lispro or Aspart
• Never use Regular insulin in kids
– Except in insulin gtts in the PICU
Sick Day Management
• ALWAYS NEED INSULIN. Always give insulin.
• Don’t hold the insulin!!
• When ill, you need energy and electrolytes
(carbs). Need to give insulin for the carbs.
• If pump or pump site malfunctions, need to
give a SQ injection of lispro/aspart
• If patient is on Glargine and is vomiting but
can sip on Sprite – give insulin for the Sprite
Sick day Management
• Glargine
–
–
–
–
Lantus
lasts 24 hours
Slow release
Never give it more than
once every 24 hours.
– Ok to give even with low
blood sugars
• Lispro/Aspart:
– Humalog/Novolog
– works immediately
– Don’t give if blood sugar
is low
– Last 3-4 hours
– Can give this as a bolus
every 3-4 hours
Don’t give Regular insulin! If one of the choices on the test asks you to
Give regular insulin, it is the wrong answer!
Type 1 Diabetes: DKA
• Electrolyte imbalance
before treatment:
• High blood glucose
• High potassium
• High Phos
• Low Bicarb (CO2)
• Electrolyte changes
after treatment with IVF
and insulin gtt:
• Low blood glucose
• Low potassium
• Low Phos
• Higher bicarb
Type 1 diabetes: Cerebral edema
“How to NOT Kill a Diabetic”
Brain
Blood vessel
Correct treatment for DKA: slow rehydration with ½ NS or NS over 24-48 hours
Type 1 diabetes: DKA
Brain
Blood vessel
Type 1 diabetes: DKA
Brain
Blood vessel
Type 1 diabetes: DKA
Brain
Blood vessel
Type 1 diabetes: DKA
Brain
Blood vessel
Type 1 diabetes: DKA
Treatment with a big IVF bolus
Brain
Blood vessel
Type 1 diabetes: DKA
Treatment with a big IVF bolus
Brain
Blood vessel
Type 1 diabetes: DKA
Treatment with lots of insulin
Brain
Blood vessel
Type 1 diabetes: DKA
Treatment with lots of insulin
Brain
Blood vessel
Type 1 diabetes: DKA
• You are taking care of a new-onset diabetic –
she is 18 months old, initial ph was 6.9 (very
low). She is on IVF and an insulin gtt and is
doing fine. 6 hours into treatment, mom runs
to you panicking that she can’t wake her up,
what’s going on and what do you do?
• #1: Decrease the IVF rate and decrease the
insulin gtt rate.
• #2: Administer Mannitol
Type 1 diabetes: DKA
• DON’T
• EVER
• GIVE
• BICARB
• !!!!!!!!!!
Unless Dr. Vidal tells you to do it, then it is ok 
Type 1 vs Type 2 diabetes
• Type 1
• Positive antibodies
– GAD Ab
– Anti-islet cell Ab
– Insulin autoantibody
– Insulinoma 2 associated Ab
• Low C-peptide
• + urine ketones/DKA
• No acanthosis
• Type 2
• NO antibodies
• C-peptide +/– Usually high, can be low
•
•
•
•
Family history +/Certain ethnic origin +/Urine ketones/DKA +/Acanthosis nigricans +/-
Screening for Type 2 diabetes
• It is now ok to use HgbA1c to diagnose
diabetes, on board exams and clinically
• Insulin and C-peptide can be variable and high
insulin levels don’t mean you have diabetes
• Screen with fasting plasma glucose every 2
years in overwt kids with + fam history or
certain ethnic group or + AN
• If fasting glucose is over 110, do a 2 hr OGTT
Treatment for Type 2 diabetes
• Lifestyle modification: Diet and exercise
• If no success in a few months, start Metformin
• If BG are over 300 and pt also has ketones or
presented in DKA, consider starting insulin
• Don’t use any other diabetes drugs – they are
not approved for kids
• It is normal for kids with type 2 to already
have CV problems at diagnosis – high BP, low
HDL, high LDL, etc
Metabolic Syndrome
• Obesity, high blood pressure, low HDL, high
triglycerides, and insulin resistance.
• Acanthosis Nigricans (AN) can be a sign of
insulin resistance. It does NOT mean that the
patient has high blood sugar or diabetes.
• (PCOS: abnormal menses, clinical signs of
excess androgens(hirsute), and cysts on ovary,
only need 2 of these)
Metabolic Syndrome
• If your patient has obesity, high BP, low HDL,
high triglycerides, and signs of insulin
resistance, check for other medical problems:
• Fatty liver – check ALT (transaminase)
• PCOS in females – ask about hirsutism, check
free testosterone and DHEA
• Look for sleep apnea
• Look for microalbuminuria
Recognize hypopituitarism
• Most common acquired cause:
craniopharyngioma
• Clinically will see growth failure from GH
deficiency and hypothyroid, but it is often
missed
• First signs of cranio: visual field defects and
headaches. Then growth failure is noticed.
Usually patient will be overweight, and have
delayed puberty.
Pediatric Endocrinology
Potpourri, Board Review
Anne-Marie Kaulfers, MD
Pediatric Endocrinology
March 18, 2010
General Growth and Development
• 1A normal newborn weighs 3 kg. How much will
he weigh at 3 months of life?
• Actual Numbers:
– 0-3 mo: 2 lb and 3.5 cm/month
– 3-6 mo: 1.25 lb and 2 cm/month
– 6-9 mo: 1 lb and 1.5 cm/month
• Shortcut:
– A little less than 1 kg and a little more than 2
cm/month
– After age 2 years: 5-8 cm/year is normal
Puberty
• 2A 14 year old boy has testes that are 8 ml. Is
this normal, early, or late?
• Ages:
– 10 years old: testes are 5 ml
– 12 years old: testes are 10 ml
– 14 years old: testes are 20 ml
Puberty
• 3A 10 year old boy is Tanner 2. What size are
his testes?
• Tricks to remember:
– Multiply by 3
– Tanner 2: size 6 ml
– Tanner 3: size 9 ml
– Tanner 4: size 12 ml
– Tanner 5: size 15 ml
Puberty
• 4A 16 year old boy is really short, testes are 15
ml. Has he had a growth spurt yet/will he get
much taller?
• Testicular Size
– Sizes 1-25 ml
– 4: start of puberty
– 10: start of growth spurt
– 20: adult size
Puberty – Gynecomastia
• 5A very tall 17 y/o boy has bilateral breast
tissue and small testes. What genetic
syndrome does he have?
• Other features:
– Learning disability
– Behavior disorder/ADHD
– 47, XXY
– Low testosterone, High LH and FSH
Delayed puberty
• 6A 15 y/o boy is seen for delayed puberty. He
has a normal height and has Tanner 5 body
hair, but his testes are only 2 ml. He has a
history of a cleft lip repair, and only has one
kidney. He gets extra help in school because
of mild MR. You check labs and his LH, FSH,
and testosterone levels are all low. What
genetic syndrome does he have?
• What if I tell you he also can’t smell?
Growth
• 7They show a picture of a normal appearing girl who
they tell you is short. What is the diagnosis?
• 8What autoimmune disease is she at risk for?
• 9What imaging studies are needed at diagnosis?
• Other things to consider:
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–
–
–
–
–
Can start GH after age 9 months
Needs hearing and eye evaluation
May develop scoliosis, teeth problems
May have a nonverbal learning disorder
Start estrogen at 12 years
If has a mosaic karyotype including a Y (XO/XYY), need to
remove the gonads due to risk for gonadoblastoma
Brain abnormalities
•
10A
newborn baby has nystagmus. MRI
reveals optic nerve hypoplasia with absent
septum pellucidum. What endocrine problem
do you consider?
• 11A newborn baby has a micropenis. What
diagnosis do you consider?
• 12A baby has a single central incisor. What
diagnosis do you consider?
Adrenoleukodystrophy
• Only happens in boys (X-linked)
• At age 3-4 years, they get progressive behavior
problems: aggression, hyperactivity, poor
memory, poor handwriting.
• Then it progresses to ataxia, increased spasticity,
blind, deaf, then can’t speak or swallow. Interval
from 1st sign to complete vegetative state is 2
years, followed by death.
• They also get N/V, fatigue, low BG, muscle
weakness from adrenal insufficiency
• Test: VLFCA (very long chain fatty acids)
Hypo/Hyperphosphatasia
• Hypophosphatasia:
– Low levels of Alk Phos
– Usually fatal in infancy
– Leads to osteomalacia and bad periodontal dz
• Hyperphosphatasia:
• “Transient”:
– very high Alk Phos with no liver or bone disease,
– resolves in months with no tx.
– usually kid is under age 5 years and is healthy
• Permanent: look for underlying bone and liver dz
Lab tests
•
13A
known diabetic comes into the ER in DKA.
Initial BG is 600 mg/dl, and the sodium level
on the blood work reads 140 mmol/L. What is
the real sodium level?
• High glucose falsely lowers the sodium. For
every 100 mg/dl the glucose is over normal,
the sodium level decreases by 1.6 mmol/l.
Lab tests - Growth
•
•
•
•
•
14What
lab tests do you use to screen for
growth hormone deficiency?
15If IGF-1 and IGF-BP3 are low, what test do
you do to confirm growth hormone
deficiency?
16Which lab test do you use to monitor the
patient once they are on GH therapy?
17What are some side effects of GH therapy?
18What agents are used for GH stimulation
testing?
Other tests for growth
• If overweight:
• Hypothyroid
– TSH and free thyroxine
• GH deficiency
– IGF1 and IGF-BP3
• Cushing’s syndrome
– 24 hr urine free cortisol
• If underweight:
• GI disease
– Crohn’s
– ESR
• Renal disease (RTA)
– Chem-8
• Celiac disease
– Tissue tranglutaminase
Indications for Growth Hormone
• Growth Hormone
deficiency
• Hypopituitarism
• Panhypopituitarism
• Turner’s syndrome
• Noonan’s syndrome
• Prader Willi syndrome
• AIDS wasting
• Chronic renal
insufficiency/failure
• Born SGA or IUGR with
failure of catch-up
growth by age 2 years
• Idiopathic Short Stature
• SHOX gene deficiency
Lab tests - Puberty
•
19A
little 5 y/o girl has breast development and
accelerated height velocity. What stimulation
test do you use to evaluate for precocious
puberty?
• 20Once central precocious puberty is
confirmed, what imaging study do you do
next?
• 21What brain lesion causes precocious puberty
and gelastic seizures (aka laughing fits)?
Pre-Puberty
GnRH pulses
Hypothalamus
Pituitary
LH, FSH
Ovary/
Testes
Puberty
Hypothalamus
GnRH pulses
Pituitary
LH, FSH
Early Puberty:
Before age 7 in black girls
Before age 8 in white girls
Before age 9 in boys
Ovary/
Testes
Precocious puberty
•
22A
15 y/o girl moves to the USA from an
underdeveloped country with poor health
care. She is very short and she started her
periods when she was 4 years old. On physical
exam, you notice many café-au-lait spots with
irregular borders: a “coast of Maine”
appearance. One arm is longer than the other
and she has a strange bony overgrowths on
her face. What syndrome does she have?
McCune-Albright syndrome
• Peripheral precocious puberty
• Café-au-lait spots
•Polyostotic fibrous dysplasia
•Bone is replaced by fibers
Polycystic ovarian syndrome
• Oligo – or an- ovulation
• Clinical or biochemical evidence of
hyperandrogenism
• Polycystic ovaries on ultrasound
• Need 2 out of these 3 to make a diagnosis
– Increased risk of metabolic syndrome
• Obesity, high trig, low HDL, high BP, high fasting BG
PCOS – clinical picture
Mostly obese – some have metabolic syndrome
Some have polycystic ovaries on U/S
High:
• Free Testosterone
Low:
• Androstendione
• Sex-hormone
binding globulin
• DHEA
• FSH
• DHEA-S
• Insulin
• Total Testosterone (or nl)
• LH
• LH/FSH ratio > 3 (or nl)
Hirsutism
(Clinical evidence of hyperandrogenism/PCOS)
•
•
•
•
Male pattern hair in women
Hairs are long, dark, curly: “terminal”
On Upper lip, chin, upper chest, abd, back
The degree of hirsutism is NOT directly related to the
levels of androgens in the blood
• Hirsutism doesn’t indicate pathology
• Diff from virilization:
– Clitiromegaly, male body shape, male-pattern baldness,
voice deepening
– Needs a more complete workup
Amenorrhea
•
•
•
•
•
No menses 4 yrs after breast dev
No menarche by age 16 years
Delayed puberty: no signs by age 14 yrs
Secondary: missing 3 cycles of menses
Anovulation:
– Major cause of amenorrhea
– Happens to most girls in 1st 2 yrs of menses
– Can still be happening at 5 yrs post-menses
Hypothalamic amenorrhea
• Low GnRH: leads to low LH and low FSH
–
–
–
–
–
–
–
–
–
–
–
Stress
Exercise
Poor nutrition (eating disorders)
Athlete triad: disordered eating, amenorrhea, osteoporosis
Weight changes
Extreme emotion
Drugs: heroin, methadone
Chronic Disease: CF, renal dz
Genetic: Kallman’s, Prader-Willi, Bardet-Biedl
High Prolactin
Thyroid dysfunction
Prolactin
• Clinical picture of a prolactinoma:
– Galactorrhea (variable)
– Headache
– Visual field deficit
– Infertility/irregular periods
– Osteopenia (from low estrogen levels)
• Only ½ will have a mass on MRI
– Microadenoma: <10 mm (Macro >10 mm)
Lab tests - Adrenal
• Newborn baby has congenital adrenal
hyperplasia.
• First lab to check:
– 17-hydroxyprogesterone
• Most likely adrenal enzyme deficiency:
– 21 alpha hydroxylase
• Test to confirm the diagnosis:
– ACTH stimulation test
Tests - Thyroid
•
•
•
•
•
Different names:
TSH and thyrotropin
T4 and thyroxine and levothyroxine
T3 and triiodothyronine and Cytomel
Don’t treat with T3 or measure T3
Water Hormones
Diabetes Insipidus
• Can’t make ADH
• Pee out all your water
• Only thing left in blood is salt
• Only thing in your pee is water
• Can’t concentrate the urine
• Patient pees too much, so therefore they drink
Diabetes Insipidus - Labs
•
•
•
•
•
•
•
•
High serum Na
High serum Osm
Low spec grav in urine
Low urine osmolarity
polyuria/polydipsia, even overnight
Patient prefers only water, cold water
Confirm with water deprivation test
Treat with DDAVP (vasopressin)
Diabetes Insipidus - Testing
• Confirm with a water deprivation test
• Admit kid to hospital, no eating or drinking
• When serum Na goes above 140 and serum
osm goes above 300 and urine is still dilute,
you have confirmed DI
• Then give vasopressin (DDAVP)
– Central DI: urine will concentrate (urine osm >600)
– Nephrogenic DI: urine will stay dilute
• Treatment: low salt diet and a thiazide diuretic
SIADH
• You make too much ADH, so you can’t pee out
your water.
• Only thing in the pee is salt
• The blood is mostly water
• Happens after brain injury
• Urine: high sodium, high osm, high SG
• Blood: low Na, low osm
• Treatment: water restriction
23What
heart lesion do these girls have?
I see full cheeks and a large mouth
24What
heart lesion do these girls have?
Answers
•
•
•
•
•
•
•
•
•
•
•
1: He will weigh 5.4 kg
2: Late
3: Testes are 6 ml.
4: No, he has finished growing.
5: Klinefelter’s
6: Kallmann’s syndrome
7: Turner’s syndrome
8: Hypothyroidism, and also celiac
9: Get a heart Echo and renal ultrasound
10-12: hypopituitarism
13: Sodium level is 148.
Answers
• 14: IGF-1 and IGF-BP3
• 15: growth hormone stimulation test, with two agents: arginine,
clonidine, L-dopa, or insulin
• 16: IGF-1
• 17: headache (increased ICP), SCFE, high blood sugar
• 18: Clonidine, Arginine, L-Dopa, Glucagon, Insulin
• 19: leuprolide stimulation test
• 20: MRI of the brain
• 21: hypothalamic hamartoma
• 22: McCune-Albright syndrome
• 23: Williams syndrome – supravalvular aortic stenosis
• 24: Turner’s syndrome – coarctation of the aorta and bicuspis aortic
valve