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Growth can be easiest way to determine
overall health of a child
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Red Flag: Growth less than 5 cm/year
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Most common cause of short stature is short
parents
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Secreted in response to GHRH
 Is secreted in bursts
 Dopamine causes release of GHRH
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Somatostatin inhibits the release of GH
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Anything that effects the pituitary gland will
usually result in GH Def.
 Think midline defects, central incision, bifid uvula
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Height less than 3 SD below mean, slow
growth velocity
Characteristic Features
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Short stature
Normal body proportion
Increased adiposity around trunk and extremities
Boys may have small genitalia
Can be seen with midline defects
Hypoglycemia
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Tests
 Height and bone age is delayed
 Low IGF-1 and low GH levels
 Can do GH stimulation tests
▪ Exercise
▪ L-Dopa, insulin, arginine, clonidine, glucagon
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Treatment
 GH replacement
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Hypoglycemia
Micropenis
Jaundice
Midline facial abnromalities
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TRH
TSH
T4/T3
Free T4 is the only active form
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Most are asymptomatic at birth because of
maternal thyroxine
Newborn screen will check TSH
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Clinical Presentation
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Infant can present with goiter
Broad nasal bridge, thick lips, poor feeding
“hoarse cry”
Slow heart rate, low temperature
Umbilical hernia
Large posterior fontenelle, large sutures on X-ray
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Most common cause is thyroid dysgenesis
Other less common causes
 Defect in the synthesis
 Radioiodine given during pregnancy
 TSH deficiency
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Treatment should be started within 2 weeks
 Thyroxine
 Good prognosis if started early in life
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Most common cause Hashimoto thyroiditis
Dry skin, constipation, hair loss, depressed
DTR, goiter
More common in girls
Sharp deceleration of growth with preserved
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Tests
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 High TSH
 Low thyroxine level
 Often detect antibodies
SCFE – high risk
with rapid changes
of growth. Can see
because of rapid
halt!
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Graves disease is most common cause
 TSH receptor antibody stimulates thyroid cells
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Symptoms
 Tachycardia, weight loss, heat intolerance
 Anxiety, muscle weakness, tremor
 Exophthalmos,Goiter
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Tests
 Elevated thyroxine and triiodothyronine
 Low TSH
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Treatment
 PTU or methimazole
 Surgery – radioactive iodine/thyriodectomy
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Common cause of short stature in girls
Physical findings
 Cubitus valgus, sheildlike chest, web neck
 Gonadal failure
▪ Pubic and axillary hair with no breast development or
menarche
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WorkUp
 Karyotype
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PTH
 Increased Ca+ release from bones
 Decrease renal excretion of Ca+
 Increase conversion of Vit D to 1,25 OH-D
 Decreases Phos reabsorption from kidney
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1,25 OH-D
 Increase Ca+ reabsorption from gut, bone, kidney
 Increase phos reabsorption from gut and kidney
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“PTH antagonist”
Decrease Ca+ bone resorption
Increases renal Calcium clearance
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Due to aplasia/hypoplasia of parathyroid
gland
Can be associated with DiGeorge
Also autoimmune forms
Presentation can vary
 Muscle pain or cramps
 Positive Chvostek or Trousseau sign
 Seizures
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Labs:
 Hypocalcemia
 Elevated phos
 Low PTH/low 1,25 OH D
 EKG: prolonged QT
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Treatment
 Calcium
 Vit D (Calcitriol)
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Pseudohypoparathyroidism
Round facies, short stature, obesity, skin
hyperpigmentation, short thick necks
Short 4th metacarpals and metatarsals
Decreased intelligence
Labs
 Hypocalcemia
 Hyperphosphatemia
 Elevated PTH
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In children usually response to low Ca+ levels
 Vit D deficiency
 Malabsorption
 Chronic renal disease
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MEN I – neoplasia
 Pancrease
 Parathyroid
 Pituitary
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Excess glucocorticoid secretion
Clinical features
 Round face, obesity, buffalo hump, stirae, thin
extremities, HTN, osteoporosis, decrease growth,
hirsutism
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Testing
 Elevated urine free cortisol
 Dexamethasone suppression test
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Causes
 Adrenal tumor, pituitary adenoma, ectopic ACTH
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ACTH-secreting pituitary tumor
Which results in excess glucocoriticoid
secretion
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Acquired Deficiency of glucocorticoid and
mineralcorticoid
Clinical Features
 Thin body, hyperpigmentation of skin(bronzing)
 Confusion, weakness
 Can cause vascular colapse
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Testing
 Hyponatremia, hyperkalemia, low cortisol
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Treatment
 Replacement of hormones
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Autosomal recessive
Get increased ACTH
Causes:
 21-Hydroxylase Def
▪
▪
▪
▪
Most common cause
Salt wasting
Virilization
Elevation 17-Hydroxyprogesterone
 11ß-Hyroxylase Def
▪ No salt wasting – hypertension
▪ Virilization
▪ Elevated 11-deoxycortisol
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Presentation
 Shock or septic in newborn
 FTT
 Males – normal genitalia (could have
hyperpigmentation of scrotum)
 Females- ambiguous genitalia
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Lab findings
 Low Na
 Low Cl
 High K