Other Endocrinology Flashcards
Hypoglycemia definition in Infants + Kids (not neonates)
PG = 2.8
Ddx for hypoglycemia (not neonatal)
endocrine: ketotic hypoglycemia, GH deficiency, pan-hypopit, ACTH deficiency, addison’s, excess exogenous insulin
other: sepsis/shock, liver disease, inborn error of metabolism, ingestion (ethanol, salicylates, B-blockers)
Work-up for hypoglycemia (draw before treatment)
PG, blood gas, lytes, tot and free carnitines, serum amino acids, ammonia, urine organic acids, c-peptide, lactate
urine for glucose, ketones, reducing substrates
management of hypoglycemia
tx if PG is <3.3 with symptoms, or <2.8
bolus dextrose (5ml/kg of D10), then continue infusion to maintain PG
if no IV: glucagon IM or SC, repeat q20min
congenital hypothyroidism - presentation
asymtomatic (Newborn screen), FTT, constipation, jaundice, hypotonia, periorbital + hand + feet edema, large fontanelles
W/u for hypothyroidism
clinical suspiction or +ve screen:
TSH, T4, thyroid scan
treatment goals for hypothyroidism
prevent delayed milestones, intellectual impairment, poor growth, hearing loss
treat with levothyroxine, regular follow-ups
congenital adrenal hyperplasia mechanism
21-hydrozylase enzyme defect, build up of 17-hydroxyprogestone.
Decreased cortisol and/or aldosterone, leads to increased ACTH -> increased androgens.
Spectrum of severity. Recessive.
CAH presentations
classical CAH:
- salt wasting: FTT, dehydration, hypoN, hypo K, poor feeding, lethargy
- females: ambigious genitalia /w normal internal organs
- if unidentified, salt wasting crisis at 1-2wks old
- non-salt wasting: toddlers /w signs of puberty (male)
NCCAH / late onset
- early puberty, accelerated bone age, signs of androgen excess, or asymptomatic
diagnostic test for CAH
17-hydroxyprogresterone
or other hormones for rarer forms
Management of CAH
- ambigious genitalia - hx + px for signs of salt wasting
- w/u with karyotype, FISH for SRY, pelvic US for int. genitalia
- 17 hydroxyprog, glucose, lytes, VBG, androgens, renin
- classic CAH: hydrocortisone + fludrocortisone + NaCl
- NCCAH but symptomatic: glucocorticoid replacement
- adrenal crisis management: fluids, correct K, hydrocortisone (after 17prog drawn)
CAH complications
- adrenal crisis (forget meds, stress/illness)
- short stature
- osteoporosis
- infertility (sometimes)
- precocious puberty or delated menarche
- increased metabolic syndrome
Definition of Short Stature
<3%ile OR
crossing major lines OR
low velocity (<25%ile)
Ddx for short stature
- neglect
- bone dysplasia (rickets, achondroplasi)
- chromsomal (turners, downs)
- chronic disease: CF, CHD, malnutrition, renal disease, chronic infection
- constitutional delay of growth + puberty
- endocrine: thyroid, cushings, hypogonadism, hypopit, GH def – rare)
- familial short stature
- GI malabsorption (celiac, crohns)
Conditions with short stature but normal growth veolicty (parallel to 3rd%ile but below it)
CDPG
- Fx of delay but normal mid-parental height
- will be normal height
- bone age + puberty delayed
- possible short term androgens for boys - caution, will close growth plates
Familial short stature
- FHx short stature
- no tx indicated
- achieve mid-parental height
Syndromic (turner, achrondroplasia)
- follow %ile specific to condition /w normal velocity
Work-up for pathologic short stature
velocity <6cm/year
- growth chart, vitals
- arm span to lower segment ratio (increased in achondro, hypoT)
- visual fields/fundi (pit)
- tanner staging
- nutrition, dysmorphism, chronic disease
- mid parental height
- bone age
- TSH, T4, GH stim test
- chronic illness: lytes, cr, BUN, LFT, Ca, IgA, ESR, urinalysis
- celiac, CF work-up
- karyotype in females, and males if dysmorphic
Management of short stature
- treat underlying cause
- no tx if non-pathological
- GH tx requirements: GH deficient on 2 stimulation tests, ht <3%ile or velocity <3ile, delayed BA, or turners/noonans/renal failure
- consider: testosterone or estrogen in pubertal delay / CDGP - won’t increase final height but will decrease delay, GnRH agonists (to delay puberty + growth plate fusion)
Normal Puberty in Girls
onset age 8 - 13
breast -> pubarche -> growth -> menarche
Normal Puberty in boys
onset age 9-14
testes -> pubarche -> growth spurt
Central Causes of Precocious puberty
hypergonadotropic hypergonadism
- idiopathic
- obesity
- CNS lesions - tumor, encephalitis, trauma etc
- primary hypothyroidism
Peripheral Causes of Precocious Puberty
Hypogonadotropic hypergonadism
- adrenal: CAH, adrenal neoplasm (contrasexual), cushings
- ovarial disorders: cysts, granulosa cell tumor (E), theca and leydig tumors (T), germ cell tumors (gondotropin/hCG)
- endogenous steroids
- McCune-Albright syndrome
- hypothydroidism
- aromatase excess syndrome
Evaluation of Precocious Puberty
- abdo, skin, neuro exam
- tanner staging
- growth velocity
- bone age
- BMI
- LH + FSH
- estradiol, testosterone
- DHEA-S + androstenedione
- 17-hydroxyprogesterone
- TSH, T4
- prolactin
consider:
- pelvic US
- MRI head - central cause
- b-hCG
- GnRH or leuprolide stim test
- ACTH stim test (adrenal insuf)
Treatment of Central Precocious puberty
- GnRH agonists (leupron)
Treatment of Peripheral precocious puberty
- tx underlying pathology
- spironolactone, tamixofen, anastrozole, letrozole (aromatase inhib), or ketoconazole
