Endocrinology Flashcards
Default pattern of differentiation of the genital system
Phenotypic female
Result of presence of androgens
Male external genitals
Result of presence of mullerian inhibiting factor
Regression of Female internal duct structures
Sequence of male pubertal development
Testicular growth
Pubarche
Penile growth
Peak height velocity
First sign of pubertal development in males
Testicular enlargement
Sequence of female pubertal development
Thelarche (breast)
Pubarche
Peak height velocity
menarche
Age of delayed puberty
Boys: 14 yo
Girls: 13 yo
Most likely cause if delayed puberty in boys
Constitutional delay
Premature adrenarche
Androgenic sexual characteristics (hair, acne, odor) without estrogenic sexual characteristics (breast, menarche)
Premature thelarche
Before 8 yo
Premature testicular growth
Before 9 yo
Precocious puberty
Cafe-au-lait with jagged borders
Fibrous dysplasia (radiolucent regions on bone)
McCune Albright syndrome
Phenotypic female
Genetic male (XY)
No male external genitalia
Blind vagina
No uterus
X-linked
Androgen insensitivity syndrome
Most common cause of adrenal insufficiency in infants
Congenital adrenal hyperplasia
No ambiguous genitalia in males
Excessive scrotal pigmentation
Ambiguous genitalia and No palpable testes in females
Posterior labial adhesions
Clitoral hypertrophy
Congenital adrenal hyperplasia
Most common cause of CAH
21-hydroxylase deficiency
First-line diagnostic test for CAH
17-hydroxyprogesterone levels
(Elevated with 21-hydroxylase deficiency)
Management for CAH
Dextrose containing fluids
Mineralocorticoids (fludracortisone)
Corticosteroids (hydrocortisone)
Hyperpigmentation
Hyperkalemia
Hyponatremia
High ACTH
Primary adrenal deficiency
Midline defects
Low ACTH
Secondary adrenal insufficiency
Diagnosing and managing primary and secondary adrenal insufficiency
AM cortisol
-if < 3, confirmed primary
-if 3-15, do ACTH stim test
ACTH stim test
-if cortisol < 18 — primary
-if cortisol > 18 — secondary
Primary - hydrocortisone + fludricortisone
Secondary - hydrocortisone (function normal)
Most common cause of Cushing syndrome
Exogenous steroids
Gold standard for confirming hypercorticolism
24-hour urinary free cortisol excretion
> 100mcg/day — confirms Cushing’s
Work up for Cushing’s
24 hr free urinary cortisol
Or late night salivary/plasma cortisol
Or Dexamethasone suppression test
Next step If urine free cortisol elevated
Serum ACTH level
-if elevated — MRI head
-if low — MRI adrenals
Diabetes insipidus
Exophthalmus
Lytic bone lesions
Recurrent otitis media
Langerhans Cell Histiocytosis
(Posterior pituitary disease)
Time if peak growth velocity
Around SMR 3 in boys and girls
Peak growth velocity for girls
1.5 years before menarche at SMR3
2 correct scenarios for growth hormone deficiency
Space-occupying lesion
Congenital
Micropenis
Hypoglycemia
Short stature
SOD
breech presentation
Jaundice
Congenital growth hormone deficiency
(Typically around 6-12 mo)
Decrease in growth rate
Early teen
Delayed onset of puberty
Bone age below chronological age
Constitutional growth delay
Best assessment for constitutional growth delay
Compare bone age to chronological age
(Bone < chronological)
Disproportionate short stature
Achondroplasia
Premature closure of growth plates due to increased androgens
Premature puberty
Most important determinant for ultimate adult height
sexual maturity rating
Tall stature
Macrocephaly
Cognitive deficits
Parents not tall
Soto’s syndrome
Most common cause of congenital hypothyroidism
Thyroid dysgenisis
Poor feeding
Prolonged jaundice
Constipstion
Hypotonia
Hoarse cry
Macroglossia
Umbilical hernia
Large anterior fontanelle
Congenital hypothyroidism
Treatment for congenital hypothyroidism
PO levothyroxine 10-15 mcg/kg/day
By 2 weeks of age
mixed in any liquid but soy formulas (reduces absorption)
Low total T4
Normal free T4 and TSH
Total binding globulin deficiency
X-linked
No treatment
Low/normal fT4, high TSH
Anti-TPO Ab
Hashimoto thyroiditis
Most common cause of hyperthyroidism
Graves’ disease
Bulging eyes
Emotional lability
Weight loss
Sleep disturbance
Lid lag
Grave disease
Treatment for Graves’ disease
Methimazole
PTU - not preferred in children or adolescents (risk for hepatitis, neutropenia, drug rashes)
Irritability, tremors, tachycardia in immediate newborn period
At risk for cardiac arrhythmias
Neonatal thyrotoxicosis
(Low TSH, high fT4)
Tx: methimazole
Single midline firm solitary mass
normal thyroid function
Move upward with tongue protrusion
Thyroglossal duct cyst
Not midline neck mass
Abnormal thyroid function tests
Thyroid nodules
Diagnostic 1st step: thyroid US
Criteria for diagnosing diabetes
HbA1c > 6.5%
Random glucose > 200
Fasting glucose > 126
2-hr glucose tolerance test > 200
Top 2 triggers of DKA
Poor compliance
Intercurrent illness
Screening criteria for type 2 DM
BMI > 85th percentile
Family history of T2DM in 1st or 2nd degree relative
High-risk race or ethnicity
Signs of insulin resistance
Preferred screening test for T2DM
Fasting plasma glucose
Treatment for T2DM
1) non-pharmaceutical
2) Metformin
3) insulting if A1c > 8.5 or BG > 250
Screening for T2DM complications
At time of diagnosis and annually
Eye exam
Microalbuminuria
Blood pressure
Lipids
Metabolic syndrome
Obesity
Dyslipidemia
Hypertension
Glucose intolerance
Causes of Hypercalcemia
Williams syndrome
Ingestion (vitamin A and D, Thiazide)
Skeletal disorders
Hyperparathyroidism
Management for Hypercalcemia
High volume fluids
Lasix
EKG
Calcitonin
Management for hyperparathyroidism
Calcitriol
Vitamin D
Causes of Hypocalcemia
Pseudohypoparathyroidism
Intake
Immune deficiency (DiGeorge)
Nephrotic syndrome
Kidney insufficiency
Bone pain
Anorexia
Decreased growth rate
Widening of wrist and knees
Delayed eruption of teeth
Bowed legs
Enlarged Costcochondral junctions
Softening of skull bones
Elevated alk phos
Rickets
Deficient mineralization of bone at growth plate
3 type of calcipenic rickets
Vitamin D deficient
Vitamin D dependent
Hereditary vitamin D resistant
PTH is always elevated
Most common type of rickets
Vitamin D deficient
Cause of rickets in liver disease
Reduced availability of bile salts
Decreased absorption of vitamin D
Cause of vitamin D dependent rickets
Inadequate renal production of 1. 25 dihydroxy vitamin D
Cause of hereditary vitamin D resistant rickets
End organ resistance to vitamin D
Management of vitamin D deficient rickets
Vitamin D
Calcium
Management of vitamins D dependent tickets
Vitamin D2
1, 25 dihydroxy vitamin D
Most common form of phosphopenic rickets in children and adolescents
Renal phosphate wasting
Most common cause of rickets in industrialized countries
Management
X-linked hypophosphatemic rickets
Tx: phosphate supplementation
1, 25 dihydroxy vitamin D (calcitriol)
Phos low/normal
Ca low/normal
ALP high
PTH high
25-vit D low
1, 25 vig D normal
Underlying cause
Vitamins D deficient rickets
Nutritional deficit or Poor UV light exposure
Phos low/normal
Ca low
ALP high
PTH high
25-vit D normal
1, 25 vig D low
Underlying cause
Vitamin D dependent rickets
1-alpha hydroxylase deficiency
Phos low/normal
Ca low
ALP high
PTH high
25-vit D normal
1, 25 vig D very high
Underlying cause
Vitamin D resistant rickets
End organ resistance
Phos very low
Ca normal
ALP high
PTH normal
25-vit D normal
1, 25 vig D normal
Underlying cause
X-linked hypophosphatemic tickets
Defect in tubular reabsorption of phosphate
Phos high
Ca decreased
ALP high
PTH high
25-vit D low
1, 25 vig D low
Underlying cause
Renal disease
Defect in phosphate excretion
Confirmatory test for Graves syndrome
Thyroid-stimulating immunoglobulin
Single central maxillary incisor
Delayed eruption of teeth
Growth hormone deficiency
Most common cardiac defect in Turner syndrome
Nonstenotic bicuspid aortic valve
SMR staging for breast development
1: no breast
2: breast and papilla elevated as small mound
3: breast and papilla with slightly larger mound beyond Arellano
4: areola and papilla form separate mound
5: mature.
SMR staging for pubic hair development in females
1: no pubic hair
2: sparse. Limited to labia major
3: darkly pigmented. Slightly curly. Spread to moms pubis
4: adult hair. Not medial thigh
5: mature. Spread to medial thigh
Central DI
Optic atrophy
Deafness
Wolfram syndrome
Hypoglycemia
Direct hyperbilirubinemia
Micropenis
Hypopituitarism
Obesity
Hypogonadism
Intellectual disability
Retinitis pigmentosa
Laurence-moon-biedl syndrome
(Bardet-biedl syndrome)
Normal growth velocity
Normal bone age
Family h/o short stature
Familial short stature
Normal TSH
Low total T4
Normal free T4
Thyroxine-binding globulin deficiency