Endocrinology - 2019 Updated!! Flashcards
In which of the following situations is growth hormone testing indicated:
a. All children below the 3 rd /5 th percentile
b. Children with growth velocity less than 6 cm/year
c. Children with a height is greater than 3 SD below the mean
c. Children with a height is greater than 3 SD below the mean
Teenaged girl has decreased growth and weight gain, and goitre.
What is her specific diagnosis?
What test would you do that is specific to the diagnosis?
- Hypothyroidism, most common - hashimotos thyroiditis
- TSH and FT4
(Consider antiperoxidase antibodies)
A 6y F has pubic and axillary hair. No other signs of puberty. Where should you look for pathology
a. Hypothalamus
b. Pituitary
c. Adrenals
d. Ovaries
c. Adrenals
If with normal growth rate, no clitoromegaly, penile growth, or testicular enlargement, from increased secretion of DHEA from adrenals. See normal HPG, FSH, LH, estradiol and testosterone and is typically benign.
Child fatigued and tanned, K 5.2, Na 132, glucose 2.6, shocky, vomiting and has diarrhea. What is used to treat the underlying condition?
a. D5 0.25NS
b. nothing
c. NS 20 cc/kg
d. IV hydrocortisone
d. IV hydrocortisone
If the Q was next best: give a bolus
High K and low Na; shock + tan (melanocyte stimulating hormone - stimulated by ACTH production - is elevated) = Adrenal crisis
Baby with hypoglycemia, name 10 bloodwork that needs to be done BEFORE treatment to diagnose the cause of the hypoglycaemia
Serum glucose Beta-hydroxybutyrate Venous blood gas Lactate Free fatty acids Growth hormone Cortisol Carnitine Acylcarnitine profile Insulin C peptide Serum Amino Acids Electrolytes (measure AG)
- urine ketones
- urine organic acids
A child is suspected of having complete diabetes insipidus. What would support this diagnosis on water deprivation test?
a) urine osmolarity falls
b) urine osmolarity raises
c) serum osmolarity falls
d) serum osmolarity rises
Urine osmolarity rises
Goal of test is to deprive water until see high serum sodium level, then give desmopressin (ADH) to see if urine oslmols increase.
Urine oslmol will increase 50% in DI and just 10% in psychogenic pd
If not asking about ADH response then:
Serum oslmol will rise higher and faster in DI than PPD.
6 yrs old obese and with oligomenorrhea (menses every 4-5 months). She has acne and hirsutism. You suspect PCO.
- What are 3 investigations to CONFIRM your diagnosis?
- What are 3 hormonal pharmacotherapy management for her menses?
- What are 2 long term complications of her symptoms?
PCOS is a clinical Dx
- Free T, Total T, FSH, LH
Dexamethasone androgen suppression test
Ultrasound - Combined OCP, Cyclic progestin, GnRH agonist (leuprolide)
- Infertility, Insulin resistance, metabolic syndrome
Child with type 1 diabetes. Ate supper but missed pre-supper insulin (5R and 8N).
About to take evening snack.
Glucose 23.5. Mom calling for advice (4 lines).
- Check for ketones
- Drink fluids
- Give SA insulin with evening snack (with correction) with LA as previously Rx
- repeat BG in 1 hour,
- check glucose again at 0200h
10 year old 30kg girl presents in DKA. PH<7.25, Glucose 40, 10 % dehydrated. Current sodium is 120.
What type of initial fluid would you give her?
What would be the rate?
What initial insulin dose/type would you start her on?
- Normal Saline Bolus
- 300 mL over 1 hour (10ml/kg bolus)
- Insulin (rapid acting) infusion 0.1 U/kg/h start 1-2 hours after IV fluid rehydration started = 3 units per hour
A 1 week old female infant has ambiguous genitalia, vomiting and lethargy. Which of the following abnormalities are you likely to find on bloodwork:
a. Metabolic acidosis
b. Isolated hyperkalemia
c. Hypokalemia and metabolic alkalosis
d. Hyponatremia, hyperkalemia and metabolic alkalosis
a. Metabolic acidosis
Patients with salt-losing CAH disease have typical laboratory findings associated with cortisol and aldosterone deficiency, including: hyponatremia, hyperkalemia, metabolic acidosis, and, often, hypoglycemia
6 year old girl with breast development, pubic hair development, advanced bone age of 10 years.
What two investigations do you do for the diagnosis?
LH, FSH, estradiol - confirm central precocious puberty
GnRH stim test
14 yo female with BMI of 31. List 4 things that you should screen her for.
- T2DM: fasting glucose, or OGTT
- Hypertension
- Hyperlipidemia - fasting lipids
- Fatty Liver: Serum ALT, AUS
- OSA
- Depression/anxiety
- Vitamin D Deficiency
- Hypothyroidism (as cause)
- PCOS
- Cushings
Name four autoimmune conditions associated with increased risk of developing celiac disease
T1DM
Autoimmune thyroiditis
Addison’s
Autoimmune hepatitis
Tall boy with decreased carrying angle, delayed puberty, mild MR, broad pelvis.
a) Klinefelter
b) Noonan
a) Klinefelter : Have primary gonadal failure with delayed puberty Typically have tall stature with long limbs and a wide pelvis. Case reports of mitral prolapse
- Noonan is similar to Turner’s, has increased carrying angle
Neonate with large tongue and hypoglycemia. What’s the diagnosis? What’s the pathophysiology of the hypoglycemia?
Beckwith-Wiedeman
Diffuse islet cell hyperplasia
15 yo obese black male presents with polyuria, abdominal pain, and vomiting. Blood glucose is 40, bicarb 21,
and Ketone 1+. What is the most likely diagnosis?
a) DM1
b) DM2
c) Hypercortisolemia
b) DM2
Adolescents with T2DM may present with HHS, also referred to as hyperosmolar hyperglycemic nonketotic syndrome (HHNK)
- hyperglycaemia
- hyperosmolarity
- severe dehydration
- no ketones
3 week old has hypocalcemia. Most likely diagnosis?
- transient hypoparathyroidism (due to natural fall)
Conditions where there is a discrepancy between chronologic age and bone age
chronic granulomatous disease failure to thrive psychosocial deprivation malnutrition all of the above
All of the above:
A girl presents with fever and hypoglycemia. On exam, you note a hyperpigmented tongue. What test will confirm your diagnosis?
a) Serum ACTH level
b) ACTH stimulation test
c) Morning serum cortisol
b) ACTH stimulation test - Confirmatory. Will have a suboptimal response due to adrenal destruction.
a) Serum ACTH level - Will be elevated in Addison’s
c) Morning serum cortisol - Will be low in Addisons
Child with T1DM, fever and vomiting. Still drinking well. Glucose is 15 mmol and mom calls you before dinner. Her usual rapid insulin dose before dinner is 3. According to her sliding scale, she should get 5 units for this measurement. She receives NPH 8 units before bed, and 5 units of NPH, 4 units of rapid in the morning.
How much insulin would you recommend that she receive now? Show your calculations (3 marks)
Insulin Sensitivity Factor
ISF = 100/TDD
= 100/20 = 5 (one unit will drop BG by 5)
Correction: for target of 5, need to reduce by 10 mmol (units)
Give her usual 3 mmol plus 2 units correction = 5 units rapid with supper.
?! Sick day management -
21 month old female presents with right sided breast swelling. SMR 2 on the left and SMR 3 on the right. She is 75th for height and weight. No secondary sexual characteristics. What is the next investigation?
Reassurance
Breast ultrasound
LHRH stim test
Abdominal ultrasound
Reassurance
A child is referred to your practice for short stature. He is following the 3rd percentile for height. His father measures 171cm and his mother measures 155cm. What is your next step in management?
a) Measure serum IGF-1
b) Measure serum TSH
c) Measure tissue trans-glutaminase antibody
d) reassure the parents
d) reassure the parents
Midparent height = (155 + 171 + 13) / 2 = 169.5 cm +/- 5 cm
- need growth chart to see this
Any way - would start with BA
27 mos girl bone age 17 mos, short stature. Graphs show N BW now 3rd for ht and wt
a constitutional
b familial
c growth hormone deficiency
d malnutrition
a constitutional
Picture of growth curve tracking parallel but below 5 th percentile. Most likely:
a. Russel-Silver syndrome
b. constitutional growth delay
c. familial short stature
d. CF
e. chronic renal failure
c. familial short stature
- both the infant and the parents are small; growth runs parallel to and just below the normal curves; normal bone age
- constitutional growth delay (weight and height decrease near the end of infancy, parallel the norm through middle childhood, and accelerate toward the end of adolescence. Adult size is normal; delayed bone age compared to chronological)
10 year old girl with an enlarged thyroid, diffuse nontender. T4 6.6 TSH >50, thyroid antibodies positive. What is your next step in management?
- Start methimazole
- Order thyroid ultrasound
- Order radionuclide scan
- Start levothyroxine
- Start levothyroxine
Skeletal findings in Rickets
Delayed closure of fontanelles
Parietal and frontal bossing
Craniotables (soft skull bones0
Enlargement of costrochondral junction - “rachitic rosary” on CXR
Harrison sulcus (groove) at lower margin of thorax
- widening at wrist
- bowing of distal radius and ulna
- progressive lateral bowing for femur and tibia
11m Kid with seizure. Ionized Ca 0.7 (low) P04 1.11 (?low).
- What is the likely cause?
- What 3 additional investigations would you do?
- Vitamin D Deficiency or Hypoparathyroidism
- Lytes, Mg,
PTH
Vitamin D (25-OH-D)
Albumin
ALP
Urin Ca:Cr
2 y.o that presents with premature thelarchy. Bone age 3 yrs, 3 mos. How will she progress to puberty?
a) Slow progression
b) Fast progression
c) Resolution at 3 yrs
c) Resolution at 3 yrs
Benign premature thelarche can present with bone age advanced in 30% of kids >2 years beyond chronologic age
A young child who comes to the ER with hypoglycemia. Improves very quickly and completely with IV dextrose. What would be in keeping with this diagnosis?
Urinary ketones
Inappropriately high insulin level
Failed ACTH stim test
Urinary ketones
Ketotic hypoglycaemia
A 12-year-old girl has a bone age of 11 years. All of the following might be expected EXCEPT:
a) menses
b) increased growth velocity
c) breast development
d) axillary hair
e) acne
a) menses
- stages of puberty (females): thelarche (breast bud development; 10-11 years) —> pubarche (pubic hair;
6-12 months later) —> increased growth velocity (always precedes menarche) —> menarche (2-2.5 years,
may be up to 6 years)
- stage of puberty is more accurately predicted by bone age than chronological age
Child with micropenis. Best test to determine sex of rearing
a. Y chromosome (karyotype)
b. testosterone level
c. hypospadias
d. palpable gonads
e. size of phallus
a. Y chromosome (karyotype)
Investigations for micropenis:
- karyotype
- assess pituitary function
- assess testicular function
- MRI (hypothalamic or pituitary lesions)
Micropenis - normally formed penis <2.5 SD below mean, stretched penile length <1.9cm
Appearance of external genitalia is rarely diagnositc of a particualr disorder
Most common forms of 46XX DSD are virilizing forms of CAH
16 year old girl with secondary amenorrhea. She was having normal periods since 13. She has not been on any medications.
- What are 6 possible causes of her secondary amenorrhea
- What are two tests that can help in the investigation
Secondary Amenorrhea - no menstration for length of 3 previous cycles in post menarche patient
Causes of secondary amenorrhea:
- PCOS
- Anorexia/weight loss
- Pregnancy
- Hyper/hypothyroidism
- Prolactinoma
- Premature Ovarian insufficiency (autoimmune, idiopathic, radiation, chemo)
- Cushings
- Stress
- female athletic triad
- Systemic disease (IBD, SCD, CF, Celiac)
Ix:
-beta-hCG, TSH, PRL, FSH, LH,
+/-ovarian U/S
8 year old, obese. Both parents with DM II. When to start screening? a. At 10 years b. At puberty c . Now d. Wait until additional risk factors
d. Wait until additional risk factors
Screen the following individuals every two years with fasting plasma glucose
Pubertal children with 2 or more of the following: OR
Pre-pubertal with 3 or more of the following :
- Obesity (BMI > 95th %ile)
- High risk population – (Aboriginal, Asian, Hispanic, South Asian or African descent)
- Family history of Type 2 diabetes and/or exposure to hyperglycemia in utero
- Signs or symptoms of insulin resistance (including acanthosis nigricans, hypertension, dyslipidemia, non alcoholic fatty liver)
9 year old girl has just had the onset of her first menses. Parents are concerned about her final height. What do you do?
a. Tell them that she will grow another 5 cm
b. calculate mid-parental height
c. do a karyotype
d. do a bone age
a. Tell them that she will grow another 5 cm
? We answered to do a bone age.
If menstruating at 9yrs, puberty probably started at 7. Unclear if other secondary sexual characteristics.
Linear growth decelerates after menarche - average ht gain after menarche is 7 cm, but more for girls to start menstruating earlier.
18 mo immigrant child from Somalia. Bowed legs and wide wrists. What does he have? X ray given of wrist. What 3 other clinical signs
- Rickets
- Rachetic Rosary, Craniotabes, frontal bossing, FTT, Delayed closure of fontanelle, Sternal groove, Hypotonia and delayed motor milestones, Dental enamel hypoplasia, seizures
Picture of a growth curve showing a 9 year old girl who has maintained the 25 th percentile for weight
from ages 3-9 years but who has fallen off the height curve from the 25 th percentile (from ages 3-7 years)
to below the 3 rd percentile (at 9 years). What is the most likely cause?
Hypothyroidism (most common endocrinopathy), could also be GH deficiency or Turners. Screen with TSH AND fT4
When growing normally and then height falls off while weight is preserved, think about and endocrinopathy. Constitutional delay, growth starts to slow at around 3 years
9-year-old girl with growth velocity 2 cm/yr for the past 2 years. Best diagnostic investigation:
a) TSH
b) CT head
c) AM and PM cortisol
d) nocturnal growth hormone level
ANSWER: a) TSH - hypothyroidism is the most common endocrinopathy
- lowest normal prepubertal growth is 5cm/year
Note: b) CT head - to assess for craniopharyngioma (growth pattern is a normally growing kid who growth then falls off but weight is preserved)
c) AM and PM cortisol - Cushing disease; would usually just screen with an AM cortisol
d) nocturnal growth hormone level - recommended test for GH deficiency is IGF-1 as a screen and then GH stimulation test
Hypoparathyroidism can be seen in all EXCEPT:
a) primary proximal renal tubular acidosis
b) vitamin D-deficient rickets
c) rickets with liver failure
d) rickets with anticonvulsants
b) vitamin D-deficient rickets - can mimic hypopara but there is no actual impact on parathyroid hormones or glands
McCune Albright question (description of girl with café o lait, short stature, etc.), what would you do? what are some typical presenting complaints of McCune-Albright?
A. NF1 testing,
B. endocrinopathy work up
B. endocrinopathy work up
Café-Au-Lait spots (coast of Maine - large, do not cross midline); fibrous dysplasia of bones; precocious puberty
endo findings: precocious puberty, hyperthyroid, hyperparathyroid, pitutary adenomas - increased GH, Cushing
What are the screening guidelines for children with type 1 diabetes:
When do you start screening for diabetic retinopathy?
When do you start screening for diabetic nephropathy?
What screening test do you do for nephropathy?
When do you screen for hyperlipidemia?
Retinopathy: yearly at
15 years or >5 years
Nephropathy: Yearly at
12 years or >5 years (urine albumin:creatinine)
Hyperlipidemia:
At 12years and 17 years
If <12 then only with BMI >97%ile, FHx, or premature CVD
HTN:
All children at least twice yearly
A 3 week old female presents with ambiguous genitalia, vomiting and lethargy. Which of the following tests do you recommend for diagnosis:
a. Aldosterone
b. 17-OHP
c. Cortisol
b. 17-OHP
CAH
Who should get GH studies?
a. Short kid with tall parents
b. All children below 3rd%ile
c. Children with > 3SD below the mean
d. Growth of 6cm/year
c. Children with > 3SD below the mean
Children with severe defects in GH production or action typically fall more than 4 SD below the mean for length by 1 year of age
Turner’s syndrome, name 5 future health problems
Premature ovarian failure Short stature Coarctation of the aorta Celiac Disease Hypothyroidism ADHD Recurrent OM SNHL HTN Structural renal anomalies - UTIs IBD Hyperlipidemia Developmental hip dysplasia Scoliosis Strabismus
A baby was found to have CPT2 deficiency on newborn screen. What do you advise?
a) continuous feeding
b) cornstarch overnight
C) frequent feedings
C) frequent feedings
Carnitine palmitoyltransferace deficiency type 2 = fatty acid oxidation defect
An 8 month old boy is referred for unilateral cryptorchidism Why is an orchidopexy recommended?
a) to prevent cancer
b) to allow for easier examination of the testis
c) to optimize fertility
c) to optimize fertility
A description is given of an early-adolescent girl who is overweight. She is wondering what her ideal
body weight should be.
BMI < 85%ile
Could also look at weight for heigh graph - 50th percentile
6 year old Short child growing along the third. Bone age is 4 years. No change in his growth velocity. Otherwise well. Gaining weight normally. What is the cause of his short stature? Mom is 160 cm dad is 180 cm calculate the mid parental height.
- cause: constitutional growth delay
2. MPH = 180+160+13/2 = 176.5cm
Mechanism of action for insulin:
a) glycogen synthesis
b) gluconeogenesis
c) lipolysis
d) ketogenesis
e) cAMP
a) glycogen synthesis
gluconeogenesis triggered by glucagon
Which medication causes pseudoporphyria
a) naproxen
b) OCP
c) methotrexate
a) naproxen
which is characterized by small hypopigmented depressed scars occurring in areas of minor skin trauma, such as fingernail scratches. Pseudoporphyria is more likely to occur in fair-skinned individuals and on sun-exposed areas. If pseudoporphyria develops, the inciting NSAID should be discontinued because scars can persist for years or be permanent.
Lab abnormalities you may see in PCOS
High LH to FSH ratio - but not diagnostic criteria
Persistent T elevation
Insulin resistance
A patient with XY, androgen production, SRY and anti-mullerian hormone production will have what gender phenotype?
male
A baby with hypoglycemia needing GIR >10mg/kg/min
Please list 3 types of hypoglycemia that would have a normal GIR requirement and 3 needed a higher than normal GIR
Normal GIR: Normal transitional hypoglycaemia Inborn Error of Metabolsim SGA/IUGR Prolonged fasting Prematurity Panhypopit Adrenal Insufficiency Hypothyroid
Elevated GIR: Hyperinsulinism IDM Beckwith-Weidemen Hyperthyroidism Birth asphyxia Abrupt cessation of IV glucose Exchange transfusion Sepsis
Which is used to determine the initial dose of replacement therapy in lymphocytic thyroiditis:
a) TSH
b) T3
c) T4
d) free T4
e) thyroid antibodies
d) TSH
What lab test would most likely be elevated in a child with the genitalia pictured. – picture of
ambiguous genitalia, looked like female virilization.
- sodium
- potassium
- cortisol
- aldosterone
- glucose
- potassium
Cortisol - low
Aldosterone - low
Glucose - low
Sodium - low
For adolescent girls, which would be the most concerning in terms of height velocity
A. Tanner stage 2, growing 6cm/year
B. Tanner stage 3, growing 4cm/year
C. Tanner stage 4, growing 5cm/year
D. Tanner stage 5, growing 1cm/year
B. Tanner stage 3, growing 4cm/year
After discontinuing sources of vitamin D and Ca, what is your initial management of hypercalcemia?
Calcitonin
IVF
Furosemide
Pamidronate
IVF
(Nelsons)
Normal saline, with or without a loop diuretic, is often adequate for treating mild or moderate hypercalcemia. More significant hypercalcemia usually requires other therapies. Glucocorticoids decrease intestinal absorption of calcium by blocking the action of 1,25-D. There is also a decrease in the levels of 25-D and 1,25-D. The usual dosage of prednisone is 1-2 mg/kg/24 hr.
Calcitonin, which lowers calcium by inhibiting bone resorption, is a useful adjunct, but its effect is usually not dramatic. There is an excellent response to intravenous or oral bisphosphonates in vitamin D intoxication. Bisphosphonates inhibit bone resorption through their effects on osteoclasts. Hemodialysis using a low or 0 dialysate calcium can rapidly lower serum calcium in patients with severe hypercalcemia that is refractory to other measures.
Kid with midline defect of septo optic dysplasia presents shocky, mottled, normal wccc, glc, Na 138, K 6, After fluids what is your next Rx?
a) Abx
b) IV Hydrocortisone
c) hypotonic saline
b) IV Hydrocortisone (the point is adrenal crisis + midline defects; see below)
Vitamin D dependent Rickets, what will be low?
a. ALP
b. PTH
c. Vit 1-25 OH vitamin D
d. Vit 25 OH vitamin D
c. Vit 1-25 OH vitamin D
Kid presents with vaginal bleeding. You note she is Tanner 3, has cafe-au-lait patches and has a bump on her leg. Xray confirms fibrous dysplasia. What do you look for? a. neurofibromas b. other endocrinopathies c. cardiac echography
b. other endocrinopathies
McCune-Albright
- expect menarche with SMR 4
Classically: patchy cutaneous pigmentation (cafe au lait spots), fibrous dysplasia, peripheral precocious puberty
- Can also have: hyperthyroidism, Cushing syndrome, gigantism or acromegaly
Teenaged girl has decreased growth and weight gain, and goitre. What is her specific diagnosis? (1) What test
would you do that is specific to the diagnosis (1)?
- Hypothyroidism, likely secondary to hashimoto thyroiditis
2. antiTPO antibodies
You are managing a child who presented to your emergency department in DKA. Suddenly she develops a
decreasing level of consciousness, and on CT scan there is cerebral edema noted.
a. Name 2 errors that you could have made in your management that would have contributed to this complication
b. Name 2 risk factors for this complication.
a. Over fluid rescuscitation Hypotonic fluids Rapid correction of glucose Insulin boluses Insulin started to soon Use of bicarbonate
b. RF for cerebral edema:
- age <5 years
- new onset diabetes
- high initial urea
- low initial CO2
- peripheral hospital
(all of the above)
Delayed sexual behaviour in adolescence is associated with?
a) precocious puberty
b) poverty
c) sexual abuse
d) strict parenting
d) strict parenting
Babe with CAH. Likely clinical picture?
a . Non ambigious boy with low sodium and high K
b . Virilized boy
c. Virilized female with high sodium and high K
a . Non ambigious boy with low sodium and high K
15 year old with primary amenorrhea. Height is <5th and weight is below the 15th. After you ‘ve ruled out pregnancy, what are 3 tests you would do?
Karyotype - Assess for Turner Syndrome
TSH - Assess for thyroid dysfunction
FSH/LH - Assess for hypogonadism
Pelvic US - Assess for mullerian structures
Diabetic going to OR. NPO since midnight. BS is now 5. To get IV D5NS. What are your insulin orders?
a. Keep same NPH, R
b. Don’t give R, give 50% NPH
c. Give 50% of R, no NPH
b. Don’t give R, give 50% NPH
- important to give IV insulin infusion and fluids with dextrose in OR to prevent hypoglycaemia and DKA
- if have long acting basal (lentos) give regular dose the night before
- if use NPH/lente as basal then give half of usual dose the mooning of surgery
Which of the following investigations would you do in an 8 year old boy with the onset of puberty:
a. Cranial imaging
b. LH/FSH levels
c. Testicular ultrasound
b. LH/FSH levels
LH (basal in a.m.), FSH, either estradiol or testosterone (results help differentiate central and peripheral precocity)
- central puberty implies activation of HPG axis and therefore LH and FSH are high
- if central precocious puberty confirmed - get MRI
Parents with type 2 diabetes, concerned about testing their son, when to do this?
a) test right now
b) test at 10 years old
c) if there are other significant risk factors
d) puberty
c) if there are other significant risk factors– this is probably the best answer based on the info given
Obese teenager. What is she at risk for?
- type 2 diabetes mellitus
- delayed puberty
- AVN of the femoral head
- Thyroid problems
- type 2 diabetes mellitus
A child is born with blind vaginal opening and micropenis. At puberty, he has normal puberty development and spermatogenesis…. What is the diagnosis?
a) Smith-Lemli- Opitz
b) 21-hydroxylase deficiency
c) 5-alpha reductase deficiency
d) androgen insensitivity syndrome
c) 5-alpha reductase deficiency
In puberty, phallus wil enlarge, testes will descend and grow normally and spermatogenesis will occur
Will have a small prostate and scant beard, no acne
AIS -
Appear F at birth, no uterus and blind vaginal pouch. Testes are usually intraabdominal but can come into the inguinal canal. Mostly seminiferous tubules
Adolescence: Often present with amenorrhea. Normal breast dev and body habitus, no menstruation or sexual hair. Usually height of normal males
Smith Lemli Opitz
AD
Deficit in cholesterol synthesis
Variable presentation, includes: microcephaly, ambiguous genitalia, ID, ASD, growth retardation, toe syndactyly, cleft palate
Girl has been drinking lots. Has low urine and serum Osm…
- Psychogenic polydipsia
- DKA (high)
- Central DI (high serum osm)
- Nephrogenic DI (high serum osm)
Psychogenic polydipsia
All the rest have high serum osmolarity
Female with enlarged thyroid mass, TSH normal, no symptoms what is next step
a. Ultrasound
b. Recheck in 6 months
c. biopsy
d. start synthroid
b. Recheck in 6 months
- US if there is a nodule
In a euthyroid patient, treatment with suppressive doses of levothyroxine is unlikely to lead to a significant decrease in size of the goiter
Prominent nodules (i.e., >1 cm) that persist despite suppressive therapy should be examined histologically using fine-needle aspiration, because thyroid carcinoma or lymphoma has occurred in patients with Hashimoto thyroiditis
Girl with delayed puberty, 14y, short stature, normal bone age.
a) turner
b) constitutional
c) GH deficiency
a) turner
Constitutional would have delayed BA. GH deficiency not a/w delayed puberty, BA would also be delayed.
What would be the difference between psychogenic polydipsia and diabetes insipidus?
1) Dilute urine
2) Diarrhea
3) Hypernatremia
3) Hypernatremia
PPD - Urine - low osmol and low Na (because it is dilute). Serum low osmol and low na.
DI: Urine - low osmol and low Na. Serum high osmol, high na.
- central DI: lack of ADH (so you’re always diuressing)
- nephrogenic DI: kidneys don’t respond to ADH ( so keep spilling water)
