Pediatric Endocrinology

Newborn Growth

Healthy: first 4 days→lose 10% birth weight
7-10 days→regain birth weight

Infant Weight Gain

30-45gm/day (1/2 to 1 ½ oz per day)

5 months→double weight

1 year→triple weight

4 y/o→double height

Primary Growth Regulating Hormones

antenatal→insulin growth factors

birth: 9 months→thyroid stimulating hormone (TSH)

after 9 months→growth hormone

Large For Gestational Age Etiology

large parent (mother)

diabetic mother

twin-twin transfusion

beckwith-wiedemann syndrome

hemi-hypertrophy

fragile x

Small For Gestational Age Etiology

small parent (mother)

intrauterine infection (TORCH, etc.)

congenital syndromes

decreased placental nutrition+oxygen:
mother under 16/over 40
maternal smoking
high altitude
maternal chronic illness (respiratory dx/DM/HTN/lupus)
drugs (cocaine, etc.)

Growth Failure/Idiopathic Short Stature

PP: shorter than average height

E:
Endocrine:
hypothyroidism

Cushing’s syndrome

pseudohypoparathyroidism

rickets

IGF deficiency

GH deficiency

GH resistance

insulin deficiency

Neoendocrine:
osteochondrodysplasias

chromosomal abnormalities

intrauterine growth retardation

malnutrition

chronic disease (Crohn’s, etc.)

constitutional delay of growth and puberty

genetics

idiopathic

psychological

CM:
PE: no dysmorphology
normal puberty
under 3rd percentile

DX:
CBC
sed rate
electrolytes
calcium
phosphorous
prealbumin
iron binding protein
FSH
LH
testosterone
IGF-1
IGFBP-3
GH stimulation: GH secretion
Bone age=chronological age

TX:
NP: reassurance
studies
monitor height+weight+growth velocity+sexual development Q 6 months

MX: growth hormone

Constitutional Delay of Growth

E: family hx of growth delay/late bloomers (dad grew in college/mom 1st period at 17)
no systemic illnesses
BA+pubertal status→normal predicted adult height

CM/DX:
PE: short stature
3 years of life→retarded linear growth→normal growth pattern→puberty: catch up growth at time of growth spurt
normal body proportions
no phenotypic abnormalities
delayed puberty

CBC
sed rate
electrolytes
calcium
phosphorous
prealbumin
iron binding protein
thyroid function tests
ACTH
cortisol
FSH
LH
testosterone
IGF-1→normal in bone age+decreased in chronological age
IGFBP-3→normal in bone age+decreased in chronological age
GH stimulation: decreased at delayed puberty growth spurt
Bone age=delayed up to 4 years

TX:
NP: monitor height+weight+growth velocity+sexual development Q 6 months
no growth spurt during puberty→GH testing
monitor advancing puberty

MX: males+bone age under 12 years→testosterone therapy
CA over 12 years+bone age over 10 years→anabolic steroids

Psychological Short Stature

PP: emotional deprivation→growth failure+delayed puberty

E/CM: nutritional deficiency
multiple siblings
overburdened mother
poor maternal/infant attachment
bizarre behaviors (eating garbage/stealing food/etc.)
enuresis
encopesis
temper tantrums
sleep disorders
speech delay/disorder
emotional deprivation
depression

DX:
PE: underweight for height
short stature
delayed puberty
protuberant abdomen
steatorrhea

CBC
sed rate
electrolytes
calcium
phosphorous
prealbumin
iron binding protein
thyroid function tests
ACTH
cortisol
FSH
LH
testosterone
IGF-1
IGFBP-3
GH stimulation: normal or sleep disorder→decreased
cotrosyn→decreased corticotrophin levels
abnormal TFT

TX: goal→change psychological environment
follow up on height+weight+nutritional status+psychological status
assess daily caloric intake
hospital admission
severe: remove from home→immediate improvement

P: early intervention→good

Growth Hormone Deficiency

PP: pituitary gland’s inadequate production of growth hormone (GH)

E: 4:1 male to female
permanent or transient
isolated or with pituitary deficiencies

CM:
newborn: hypoglycemia+no hyperinsulinemia

children: hypoglycemia+other pituitary deficiency deficiencies
short stature
lower energy levels
emotional immaturity
poor school performance

PE:
height 3 SD below the mean/severe short stature
height short to MPTH
growth velocity under 5% for chronological age/rate of growth
cherubic proportions
pudgy child
delayed eruption of primary+secondary teeth
midline defects in head/face (cleft lip/palate)
delayed sexual development

DX:
CBC
ESR
protein
prealbumin
iron binding protein
CMP
IGF-1: low-normal
IGFBP-3: low-normal
male: testosterone→low-normal
GH stim test: peak on 2 stim tests→under 10 ng/ml
bone age: delayed
brain MRI: ectopic neurohypophysis
pituitary stalk dysgenisis

TX: growth hormone 0.05 x kg=mg/day x 6 days per week
growth hormone 0.03 x kg=mg/day x 7 days
increased dosage based on weight+response to tx
dosage+compliance→IGF-1 level

P:
follow up:
every 4-5 months (height, weight, injection sites, sexual development)
AE: headache
hip pain
limp
1st months: thyrotropin deficiency→obtain baseline TSH, free T4→3 months→free T4 again
glucose+insulin levels yearly

Diabetes Inspidus

PP+E: ADH deficiency
RARE

neurogenic: lack of vasopressin production in hypothalamus

nephrogenic: inability of kidney to respond normally to vasopressin

dipsogenic: excessive intake of fluids
not deficiency to arginine vasopressin
TX with DDAVP→water toxicity

gestational: pregnancy+postpartum production of vasopressinase in placenta→breaks down ADH

HX: MC: vasopressin deficiency/resistance
excretes large amounts of urine
increased thirst
head injury
primary renal disease
neurosurgery
CNS tumor
etc.

CM:
infants: unexplained fevers
hypertonicity
failure to thrive
constipation
vomiting
poor growth
poor nutrition

older children:
recent onset polydipsia
new onset enuresis
distended bladder
polyuria
lethargy
fatigue

DX:

urine:
osmolality over 200 mOsm/1L (200-400→renal dx)
creatinine
calcium
potassium

serum:
osmolality over 287 mOsm/1L
sodium
creatinine
calcium
potassium
vasopressin

urine osmolaity=low
serum osmolality=high

additional:
water deprivation test
hypertonic saline infusion test
MRI
skull films
test primary relatives

TX:
vasopressin PO/nasal
chlorpropamide

acute phase: hospitalize+strict I&O
check urine for glucose (no sugar allwoed in DI)
specific gravity with every void

P:
chronic illness→monitor electrolytes
assess neuro status→watch for lethargy or increased sleep

Type 1 Diabetes Mellitus

PP: autoimmune→antibodies→destroys beta cells in pancreas→insulin deficiency

CM:
polyuria
polydipsia
polyphagia
weight loss
abdominal cramps
blurred vision
severe fatigue

DX:
increased blood glucose
decreased/absent serum insulin
or
decreased/absent C peptide
ketones
ICA
GAD 65
IA-2

TX:
inpt:
basal bolus insulin tx
fluid replacement
MTR
parent counseling
-carb counting
-blood glucose mtr
-injections
-S/S hypo+hyperglycemia
-hypoglycemia rescue
-hypoglycemia correction

outpt:
basal/bolus insulin regimen+correcting factors
carb counting

Insulin Therapy TX

basal/long-acting insulin: 24 hour
levelmir
lantus
basglar
toujea
tresiba (42 hour)

regular-acting:
novolin
humalin

rapid/fast-acting: before/during meals
novolog
humalog
aprida
fiasp (ultra rapid acting)

long+short-acting mix: I.E 70-30

intermittent-acting: NPH
8-10 hours
BID+rapid/regular-acting (breakfast+dinner)
goal→no other injections during day
have to eat same thing at same time: glycemic control
AE: hypoglycemia

Monogenetic Diabetes of the Young (MODY)

PP: beta-cell regulation gene mutation

E: dominant
recessive
de novo

CM: mild fasting→hyperglycemia
diabetes dx before 6 y/o
family hx with parent
endogenous insulin production after 3 years of diabetes+detectable C peptide
pancreatic islet autoantibodies→absent at dx
little basal insulin during night needed
post prandial highs

TX:
diet
sulfonylureas
insulin

Type 2 Diabetes

PP: ineffective ability for insulin to get sugar into the cells→insulin defficiency

E: genetic
environmental

CM: obesity+acanthosis
truncal obesity

TX: lifestyle changes
PO mx
GLP-1 agonist
insulin

Precocious Puberty

PP: early puberty
boys: under 11 y/o
girls: under 9 y/o

CM:
tanner breasts 2+ under 7-8 y/o
tanner testicles 2+ under 9 y/o
red/thinner scrotum
vagina mucosa pink+thinner+white secretions
acne
early breast→premature thelarche (ovaries)
pubic/axillary hair+acne+growth spurt→adrenarche (adrenal glands)

DX:
GnRH stim test:
LH→10 IU/L
dominant over FSH response

Leuprolide acetate stim test:
LH→over 8 IU/L
bone age over chronological age
pubertal ultrasound (endometrial strip)
malformation shown with MRI

TX:
lupron depot-ped
histerlin acetate
continue until:
girls→11-11.5 y/o
boys→12-12.5 y/o

evaluation:
LH under 2 IU/L
LH not supressed→increase dose
estradiol over 5
testosterone under 10

C: short final height
increased risk of sexual assault/abuse
emotional maturity

Pediatric Hypothyroidism

E: advanced gestational age (over 42 weeks)
congenital
autoimmune
acquired
hashimoto’s thyroiditis (autoimmune)
family hx autoimmune disease

CM: asx
or
open sututres
umbilical hernia
prolonged jaundice
enlarged tongue
hoarse cry
hypotonia
lethargy
pallor
poor growth
delayed teeth development
weight gain
dry skin
face+hand edema
delayed reflex
increased HR+BP

DX:
decreased free T4
increased TSH
± thyroid antibodies (+→hashimoto’s)
bone age→delayed

thyroid scan:
underdeveloped
ectopic
absent
poor uptake

TX:
congenital→mx in 1st 4 weeks of life
congenital + 3 y/o→trial off synthroid
levothyroxine sodium replacement
do not mix mx with soy

Pediatric Hyperthyroidism (Graves’ Disease)

E:
family hx autoimmune disease
hyperactivity
inability to concentrate
palpitations

CM:
tachycardia
HTN
exopthalmos (buldging eyes)
proptosis (buldging eyes)
restlessness
tremors
thyroid bruit
goiter
accelerate bone maturatio

DX:
increased T4
decreased TSH
± antibodies (+→Graves’ Disease)

TX:
atenolol
methimazole
K iodide
PTU
antibodies+goiter decreased→trial off

Turner Syndrome

PP: only 1 X chromosome present (fully functional)
mosiac→1 normal X 1 mutated

CM:
short stature
lymphodema (swelling) of hands+feet
shield chest
widely-spaced nipples
low hairline
low set ears
reproductive sterility
ear infxn
hearing loss
cubitus valgus (turned-out elbows)
soft upturned nails
high-arch palate (narrow maxilla)

DX:
amniocentesis during pregnancy

abdominal US: abnormal findings (heart defect/kidney abnormality/etc.)

karyotype test

TX:
hormone
estrogen replacement tx

Klinefelter’s Syndrome

PP: chromosome aneuploidy
male extra sex chromosome

E: 47 XXY/XXY syndrome

CM: tall
sterile
language learning impairment
gyencomastia
lanky, youthful build/facial appearance
rounded body

DX:

amniocentesis during pregnancy

abdominal US: abnormal findings (heart defect/kidney abnormality/etc.)

karyotype test

hypogonadism
low serum testosterone
high serum FSH+LH
microochridism

TX: early intervention
testosterone replacement

XYY Syndrome

PP/E: male gets another Y chromosome→47, XYY

CM: increased growth during early childhood
final height→7cm above average
early acne
fertile
normal IQ
increased learing dififculties
increased aggression

DX:
testosterone levels→normal

amniocentesis during pregnancy

abdominal US: abnormal findings (heart defect/kidney abnormality/etc.)

karyotype test

TX: early intervention

XXX/Triple X Syndrome

PP/E: female gets extra X chromosome

CM:
indistinguishable from normal without karyotyping
taller than average
lower weight
menstrual irregularities
learning disabilities
delayed speech
lanky+youthful appearance
able to conceive children
early menstruation

DX:
amniocentesis during pregnancy

abdominal US: abnormal findings (heart defect/kidney abnormality/etc.)

karyotype test

Congenital Adrenal Hyperplasia

PP: excessive/deficient sex steroid production→affects development of primary/secondary sex characteristics

E:
lack of glucocorticoids→ACTH production
lack of mineralocorticoids (aldosterone)→sodium+water imbalance
females (most common)
males→not apparent until later life

CM: masculinization of female genitals (clitoromegaly to fusion of labia into phallus)
male pseudohermaphroditism
darkening+pigmentation of skin
cold intolerance
inability to respond to physiological stress
short height

lack of aldosterone:
sodium depletion
dehydration
circulatory collapse

males: infant→normal→3-4 y/o: acne
deep voice
penis enlargent
pubic+underarm hair growth

DX: clinical
confirm→blood test

TX: glucocorticoids+mineralocorticoid replacement+salt

deficient puberty→testosterone/estrogen therapy+puberty delay/bone maturation tx

genital reconstruction surgery

P: untx females→no menstruation+infertile

Non Classical Congenital Adrenal Hyperplasia (CAH)

E: genetics
later in life

CM: hirsuitism
early/precocious puberty
advanced bone age
growth spurt
adrenarcal signs

TX: replace deficient hormones in defective enzyme

Insulin Resistance CM

headaches

moody

fatigue/low energy

acanthosis w/w.o. nigricans

weight problems:
weight gain
trouble losing weight
hungry all the time
carb craving

Polycystic Ovarian Syndrome

E: hyperandrogenism
insulin resistance

CM: hirsuitism
irregular periods
acne

DX: increased free testosterone
increased LH to FSH ratio
increased AMH

TX: BCP
spironolactone
metformin
GLP1-RA

sx: birth control
spironolactone
waxing
laser
etc.

Diet

low glycemic index

no processed/packaged food

no artificial sweeteners/flavors

every carb is not created equal

increase fiber (4+ grams/serving)→fruits+vegetables

water

link carbs with proteins (carbs+proteins together)

diet: low carb diet/keto
gluten/dairy free

Type 2 Diabetes Mellitus

E: insulin resistance
hyperinsulemia
etc.

CM: hyperglycemia
hyperglycemic crisis
random PG 200 mg/dL

DX: A1C over 6.5%
fasting blood glucose (FPG) over 126 mg/dL on 2 different times
oral glucose tolerance test (OGTT): 2-hr plasma glucose (PG) over 200 mg/dL