Endocrinology Flashcards
Rickets - physical exam
- Bowed legs + arms
- Widened ankle/wrist
- Frontal bossing
- Delayed closure of fontanelle
- Craniotapes
- Pigeon chest
- Rachitic rosary
- Kyphosis or kyphoscoliosis
- Poor dentition: enamel hypoplasia, delayed tooth eruption
When does cerebral edema and osmotic demyelination syndrome occur?
CE = rapid correction of hyperNa ODS = rapid correction of hypoNa
4 hormones (and their mechanism) involved in sodium hemostasis
- ADH - stimulated by osmolarity receptors in hypothalamus (volume depletion or hyperNa), increased reabsorption and retainment by kidneys of H20
- Aldosterone - released from adrenal cortex followed by decreased renal blood flow, increased reabsorption of Na by the kidneys
- GC’s - some mineralocorticoid
- Natriuretic peptide - cardiac wall stretch, increased Na renal excretion
DDx for primary and secondary (most common) adrenal insufficiency
Primary:
- Steroidogenesis: CAH
- Damage: trauma, tumor, infection, autoimmune (Addison disease)
- Adrenal hypoplasia
- Peroxismal disorders: Adrenoleukodystrophy
Secondary:
- Infection
- CNS surgery or irradiation
- Trauma
- Exogenous steroids
Mid-parental height calculation
F = (pat ht + mat ht - 12.5cm) / 2 M = (pat ht + mat ht + 12.5cm) / 2
Most common cause and presentation for acquired hypothyroidism
Autoimmune thyroiditis - Hashimoto Disease
- Presentation: asx, goiter, dec energy/growth, poor school performance, constipation, cold intolerance, irregular menstrual periods, associated autoimmune conditions
Most common cause of hyperthyroidism + pathophysiology
Graves disease –> TSH receptor Ab binds + stimulates the thyroid
Congenital hypothyroidism - symptoms + signs
Symptoms: Lethargy, poor feeding + weight gain, constipation, cold, hoarse cry
Signs: Acrocyanosis + mottling, extended belly, coarse features, prolonged jaundice, large fontanelle, hypotonia, slow reflexes
Causes of congenital hypothyroidism - primary, secondary, other
Primary: Dysgenesis, agenesis, ectopic, dyshormonogenesis
Secondary: Hypopit, hypothalamic abnormality
Other: Maternal iodine deficiency, transient
Initial work-up for a goiter
TSH, T4, anti-thyroidal Abs, US
Mimics of thyroid goiter (x2)
Lymphoma, parathyroid enlargement
Name main categories for short stature ddx
- Constitutional growth delay
- Familial
- Endocrinopathy
- Genetic syndrome
- Iatrogenic/medications
- Nutritional
- Chronic disease
- Psychosocial
Definition of gonadarche
Sex hormone production from gonads - triggered by LH and FSH from pituitary
Definition of adrenarche
Increase in adrenal androgen production –> pubarche, acne, sweat/body odour, axillary hair
DDx categories for precocious puberty
- Central = early onset of HPA activation
- Peripheral = hormones not coming from the brain
- Benign/non-progressive = pubertal variants
Widened wrists - what is the endo related dx?
Rickets
Bony findings of rickets
Delayed closure of fontanelle, craniotabes, frontal bossing, leg bowing, widened wrists, rachitic rosary
What SMR for breast development would you think of precocious puberty?
3 or higher - bilateral
What test would you do for adrenoleukodystrophy?
VLCFA
Target for HbA1c for T1DM?
Less than 7.0%
NMS cut off for normal TSH filter paper blood spot
> 30
How to definitively confirm Addison disease?
ACTH stim test
What should you test and treat for before treating GH deficiency?
Hypothyroidism
Classic triad for pheo
Headache, sweating, tachycardia
Associated disorders with pheo (x3)
NF 1, MEN2, von hipple lindhau
Why should you monitor children with ?pheo closely during ultrasound?
Can increase metanephrine release
Phytoestrogen cannot be given to…
Congenital hypothyroidism
What test to do to distinguish rickets?
25-OHD
What thyroid diseases are TPO, TRAB, and TgAB antibodies associated with?
TPO - Hahimotos
TRAB - Graves’ disease
TgAB - Monitoring for thyroid cancer
Definition for precocious puberty (age)
Girls < 8 years and boys < 9 years
If you have an exaggerated response to glucagon what are you thinking is the dx?
Hyperinsulinism
Two best tests for ?cushing syndrome
Urine 24 cortisol collection
Dexamethasome suppression test
Canadian guidelines for target HbA1c for T1DM
<7.5%
When to check urine ketones for T1DM?
If glucose >14
If child with T1DM is having lots of lows what test would you double check?
Celiac
How many days of supraphysiogic dosing of steroids do you consider risk for AI?
Greater than 14 days
Dx criteria for PCOS
Two of three - hyperandrogenism, amenorrhea or oligo, and US changes
x2 normal growth variants
Constitutional delay, familial short stature
What syndrome is important to screen for in all females with short stature?
Turner Syndrome
What size of testicle is pre-pubertal?
2.5cm or 4mL
Age for M and F when you consider delayed puberty?
M >14
F >13
In setting of delayed puberty, what does elevated LH/FSH with low testosterone indicate?
Hypergonadotropic hypogonadism
Age and SMR stage for premature thelarche?
- Birth to 2 years
- Equal to or less than SMR III
Age range for premature adrenarche
Typically 4-8 years
What would bone age, adrenal androgens, and LH/FSH show for premature adrenarche?
- BA = mild to moderate increase
- Androgens = normal or mild increase
- LH/FSH = pre-pubertal
Age for precocious puberty for M and F?
M <9 years
F <8 years
x2 methods for correcting hyperglycemia in DM
- TDD x 10-20% as rapid insulin by subcutaneous injection or insulin pump bolus
- Insulin Sensitivity Factor (ISF) = 100/TDD
1 unit of insulin will drop glucose by this much - given enough rapid insulin to drop BG to target 6-8 mmol/L
What factor best correlates with future cardio-metabolic risk?
Waist circumference
What x4 components need to be considered for metabolic syndrome?
- Abdominal obesity (waist circumference)*
- Dyslipidemia
- Hypertension
- Fasting glucose/T2DM
Critical sample for hypoglycemia
- Glucose
- Insulin, C-peptide
- Ketones: BHB
- FFA
- Growth hormone, cortisol
- Lactate
- Additional: ammonia, IGF-1, LFTs, thyroid, plasma a.a.’s, total/free carnitine/acylcarnitine, urea/lytes, urine (toxicology, ketones, urine reducing substances, organic acids)
When should we consider a critical sample in a neonate?
If hypoglycemia (BG <2.8) persisting >72 hours
After dx of DI is made, what is the next step to determine where the problem is?
Trial of ADH to differentiate between central vs nephrogenic DI
Dx if after fluid deprivation urine osm <300 and after desmopressin >750?
Central DI
Dx if after fluid deprivation urine osm <300 and after desmopressin <300?
Nephrogenic DI
Dx if after fluid deprivation urine osm >750 and after desmopressin >750?
Primary polydipsia
Cut off measurement for micropenis?
<2.5 cm
Cut off measurement of clitoris?
> 9mm
DDx for 46 XX DSD?
- Disorders of gonadal/ovarian development: ovotesticular DSD, gonadal DSD, gonadal dysgenesis
- Androgen excess: CAH, maternal virilizing disease, maternal androgen use
Basic lab work-up for 46 XX DSD
- 17-OHP
- Glucose, lytes
- Renin
- ACTH
- LH/FSH
- Testosterone
When do you expect Classic Salt Wasting CAH to present?
7-14 days of life
Types of CAH - what hormones are affected?
- Salt wasting = GC and MC deficiency
- Simple virilizing = GC deficiency
- Non-classical
Basic lab work-up for 46 XY DSD
- Testosterone
- DHEAS
- Androstenedoine
- LH/FSH
- Mullerian inhibiting substance
- Lytes, glucose
Hashimoto Thyroiditis Ab’s
- Anti-thyroid peroxidase
- Anti-thyroglobulin
1st and 2nd line treatments for Graves Disease
- 1st line: methimazole
- 2nd line: PTU, radioactive iodine, thyroidectomy