Endo Flashcards
Define Familial short stature and Constitutional Delay
Familial Short Stature:
- normal growth velocity
- Boen age = chronological age
- Predicated Adult height appropriate for midparental height
Constitutional Delay of Growth
- normal growth velocity
- BA < CA
- delayed entry into puberty
- often positive family history
- Predicated Adult height appropriate for Mid-parental Height
When can children cross percentile lines
- During first 2 - 3 yrs of life, child may cross % iles
- During puberty child can cross % iles
- From 3 yrs until puberty , well children do not cross %ils
What is the definition of GH deficiency in Canada?
Low response to 2 GH stim tests ( < 8 ug/L)
In neonates its (< 15)
What is the classic definition of Precocious Puberty
What are some Red Flags
Pubertal signs prior to 8 yrs in girls, 9 yrs in boys
Red flags:
- rapid progression, BA advanced > 2 yrs
- Predicted Adult Heigh < 150 cm or > 2 SD below mid-parental height
- CNS symptoms/signs
How do you differentiate central from peripheral precocious puberty
- normal puberty follows a specific sequence, age at which individual steps occurs differs
- if it is precocious puberty - differs from normal sequence
- in girls: estrogen dependent effects usually predominate
- in boys: testes are inappropriately small in size or asymmetric
What are 2 common benign conditions often confused with precocious puberty
Premature thelarche
- isolated breast development
- 6 - 24 mon of age
- does not exceed SMR III
- no change in growth %ile
Premature adrenarche
- public hair +/- axillary hair
- body odor
- acne
- no thelarche
- early secretion of adrenal androgens (DHEA)
- no change in growth %ile
- bone age = bone height
Define Delayed Puberty
Absence of secondary sexual characteristics after 13 yrs in girls and 14 yrs in boys
Increase LH and FSH with low testosterone/estrogen = primary gonadal failure
Low LH and FSH with low testosterone/estrogen = permanent or functional pituitary or hypothalamic disregulation
What is McCune-Albright Syndrome
-rare disorder defined as the triad of peripheral precocious puberty, irregular cafe-au-lait skin pigmentation and fibrous dysplasia of bone
When is MRI indicated for precocious puberty
- boys of any age
- anyone with CNS symptoms
- Girls with PP < 5 yrs of age
What is the criteria for diagnosis of T1DM
FBG > 7 mmol or RBG >/ 11.1 mmol
or 2 hour OGT glucose >/ 11.1 mmol
HgA1c is not in dx as it is in adults
How to you calculate Insulin Sensitivity Factor (ISF)
The amount of BG that will drop for every unit of rapid insulin given
100/TDD (total daily dose)
Generally doubling the basal insulin total = TDD
Screening for T2DM should be preformed every 2 yrs using a FPG in youth with
BMI > 95%, acanthosis nigricans and dyslipidemia
Risk factors of T2DM
- family hx
- exposure to GDM in utero
- ethic group
- signs of insulin resistance including AC, HTN, fatty liver, dyslipidemia
- BMI > 95%
What are the counter-regulatory hormones to insulin?
- cortisol
- GH
- glucagon
- epinephrine
Adaptions to avoid hypoglycaemia
- regular ingestion of food with storage of excess as glycogen and fat
- glycogenolysis and gluconeogensis
- decreased utilization of glucose by substitution of ketones as primary energy source
During hypogylcemic even should you insulin be low or high?
- insulin should be not measurable during hypoglycemic event
- if it is measurable - suggests that it is hyperinsulinsim
Diabetes Insipidus
- loss of vasopressin production (Central) or action (nephrogenic)
- continued production of dilute urine (<300 mosmols) despite increasing serum osmolality (> 300 mosmol) and increasing serum sodium, decreased body weight and signs of dehydration
Causes of SIADH
- CNS injury/tumor
- resp illness
- drugs
- hypothyroid
- adrenal insufficiency
Other stresses:
- Nausea
- surgery
- pain
- psychological stress
Definition of Micropenis and Clitoromegaly
Micropenis: stretch penile length < 2.5 cm in a term infant
Clitoromegaly: lenght of clitoris > 9 mm in a term infant
Posterior labial fusion: AG ratio > 0.5 (distance from anus to posterior fourchette, divided by distance from anus to base of phallus
Causes of 46 XX DSD
- CAH - most common cause
- Virilizing maternal disease
- Maternal androgen use
- Ovotesticular DSD, XX testicular DSD, gonadal dysgensis
Basic labs: 17OH serum lytes glucose ACTH Renin testosterone LH/FSH
Cause of 46 XY DSD
- Leydig cell failure
- Testosterone biosynthetic defect
- 5 alpha reductase deficiency
- Androgen receptor disorder
- Gonadal dysgenesis
- rare forms of CAH (3 B hydroxysteroid dehydrogenase deficiency)
Basic Labs: Testosterone Dihydrotestosterone (hCG stimulation) LH/FSH Mullerian inhibition substance Electrolytes Glucose
How do you stress dose hydrocortisone in an Adrenal Crisis?
minor stress: 2 - 3 x replacement oral
major stress: 50 - 100 mg/m2 IM/IV stat and continued as divided dose q 6 - 8 hours
< 3 = 25 mg
3 - 12 = 50 mg
12 + = 100 mg
Causes of Congenital Hypothyroidism
Permanent:
- Thyroid dysgenesis (80%)
- Dyshormonogenesis (10%)
- hypothalamic/pituitary (5%)
Transient (5%)
- intrauterine antithyroid meds
- maternal blocking antibody
- iodine deficiency
What is the Antibody in Graves Disease
-Thyrotropin receptor stimulating antibody
Pheochromocytoma
- rare neuroendocrine tumor
- synthesize and secrete catecholamines (dopamine, norepinephrine, epinephrine) and metabolites
- may occur as part of hereditary tumor syndrome: VHL, MEN, NF1
- sustained hypertension, classic triad: headache, palpitations, diaphoresis
Adrenal Insufficiency
- primary (addison’s disease) or central AI
- therapeutic glucocorticoid administration most common cause of secondary AI
- main presenting symptoms nonspecific: weight loss, fatigue, hypotension, vague abdo pain
- hyponatremia in Primary and Central AI
- hyperkalemia and hyperpigmentation in Primary AI
What makes up Autoimmune Polyglandular Syndromes 1 and 2
APS1
chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency
AIRE gene mutations 21q22.3
APS2:
T1DM, Celiac, thyroid disease, AI, vitiligo HLA-DR3, CTLA-4
