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Endocrinology Flashcards

1
Q

Pathologic gynecomastia

A

pre-pubertal age

  • rapid progression
  • abnormal testes
  • galactorrhea
  • severe acne
  • HTN
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2
Q

Gynecomastia investigations (specific tests)

A

LH, FSH, testosterone, estradiol, hCG, TSH, prolactin, testicular or adrenal ultrasound

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3
Q

Features of familial short stature

A
  • height < 2SD for age/sex
  • normal growth velocity
  • predicted adult height appropriate for mid-parental height
  • bone age = chronologic age
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4
Q

Constitutional delay

A
  • slowing of growth velocity in first 3-5 yrs
  • delayed entry into puberty
  • often family history
  • predicted adult height appropriate for mid-parental height,
  • delayed bone age
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5
Q

Growth hormone deficiency

  • clinical features
  • lab/Ix features
A
  • below average growth velocity
  • delayed bone age (may be advanced relative to height age)
  • low IGF-1, IGF BP3
  • low response on 2 GH stim tests
    (height falls off before weight)
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6
Q

RFs for GH deficiency

A

congenital: septo-optic dysplasia
acquired: craniopharyngioma, pituitary adenomas

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7
Q

Central precocious puberty investigation for males and females <= 5 yrs

A

MRI pituitary

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8
Q

Criteria for diabetes diagnosis

A
  • Fasting BG > 7
  • Random BG > 11.1
  • 2hr OGT glucose > 11.1
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9
Q

ISF calculation

A

100/ Total daily dose

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10
Q

DKA criteria

A
  • BG >11
  • pH < 7.3 or bicarb < 15
  • ketonemia (blood BHB>= 3 or mod-large urine ketones)
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11
Q

Female puberty

A
  • boobs
  • pubes
  • grow
  • flow (typically at breast stage 4)
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12
Q

Male puberty

A
  • testes increase
  • then phallus and scrotum
  • then pubic hair
  • height occurs when testes exceed 10-12 mL
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13
Q

Testicular size

prepuberty vs. puberty

A

prepuberty < 2.5cm (4mL)

Puberty > 2.5cm (4mL)

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14
Q

Delayed puberty age

A

absence of secondary sexual characteristics after:

  • age 13 in girls and
  • after age 14 in boys
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15
Q

Klinefelter syndrome

features of puberty

A

47 XXY
- puberty begins at appropriate age, penile enlargement and pubic hair (but does not progress)
- disproportionately small, firm testes, gynecomastia, infertility
(learning and behavioural difficulties)

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16
Q

Turner Syndrome

puberty and features

A

45 X to mosaicism (45 X, 46XX)

  • mean adult height 144cm
  • gonadal failure 96%
  • infertility 99%
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17
Q

Precocious puberty

ages and red flags

A

Ages: before 8 in girls and before 9 in boys

Red flags: rapid progression, bone age advanced > 2 yrs, predicted adult height < 150 or 2SD below MPH, CNS S+Sx

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18
Q

Premature thelarche features

A
  • isolated breast development
  • 6-23 months
  • does not exceed SMR III
    NO CHANGE in growth velocity/growth percentile
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19
Q

Premature adrenarche features

A
  • pubic hair +/- axillary hair, body odor, acne but NO thelarche
    = early secreation of adrenal androgens, but NO change in growth percentile and bone age = height age
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20
Q

GnRH dependent vs. independent precocious puberty

A

Independent (aka peripheral):

  • puberty differs from normal sequence,
  • for girls, estrogen dependent effects usually predominate
  • for boys: testes are inappropriately small in size or asymmetric
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21
Q

SIADH vs. DI vs. CSW

  • volemia
  • u/o
  • serum Na
A 
VOLEMIA: 
- SIADH = eu or hypervolemic
- DI + CSW = hypovolemic
U/O:
- SIADH =decreased
- DI + CSW = increased
serum Na:
- SIADH = decreased
- CSW = decreased
- DI =  increased
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22
Q

SIADH vs. DI vs. CSW

  • serum osmolality
  • urine Na
  • urine osmolality
A 
SIADH = decreased serum osmolality, increased urine Na and urine osmolality
DI = increased serum osmolality, decreased urine Na and urine osmolality

serum osmolality: - CSW: decreased
urine Na: CSW = increased ++, urine osmolality: CSW = increased

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23
Q

Micropenis
Clitoromegaly
Posterior labial fusion

A
  • stretch penile length <2.5cm in term infant (1.9cm in Nelsons)
  • clitoromegaly > 9mm
  • Anogenital ratio > 0.5 cm (distance from anus to posterior fourchette divided by anus to base of phallus)
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24
Q

46 XX DSD

A
  • CAH
  • virilizing maternal disease
  • maternal androgen use
  • ovotesticular DSD, XX testicular DSD, gonadal dysgenesis

labs: 17-OHP, serum electrolytes, glucose, ACTH, renin, testosterone, LH, FSH

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25
Q

46 XY DSD

A
  • leydig cell failure
  • tesosterone biosyntehtic defect
  • 5 alpha reductase deficiency
  • androgen receptor disorder
  • gonadal dysgenesis e.g. 45X/46XR)
  • rare forms of CAH

Labs: testosterone, dihydrotestosterone (hcg stim), LH, FSH, mullerian inhibiting substance, electrolytes, glucose

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26
Q

Congenital hypothyroidism newborn screen

A
  • TSH
    will not pick up CENTRAL hypothyroidism
    but majority is primary hypothyroidism aka thyroid dysgenesis (80%)
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27
Q

chronic lymphocytic thyroiditis (Hashimotos thyroiditis)

features

A
  • diffuse enlargement of thyroid
  • increased TSH
  • positive antibodies (anti-thyroid peroxidase, anti-thyroglobulin)
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28
Q

Graves disease

features

A
  • 95% have goiter
  • thryotropin receptor stimulating antibody
  • eye disease less common in chidlren than adoelscents
29
Q

Treatment for hyperthyroidism

A

Methimazole

PTU causes liver failure

30
Q

CAH features

- genetics and defects

A
  • autosomal recessive
  • most common = 21 hydroxylase (75% are classic salt wasting)
  • elevated 17 OHP
31
Q

Addison disease features

A

Nonspecific sx: weight loss, fatigue, hypotension, hyperpigmentation, hyponatremia, hyperkalemia, hypoglycemia

  • elevated Renin and ACTH
  • early am cortisol is low
  • negative corticol stim test
32
Q

Treatment of adrenal crisis

A

Minor stress = 2-3x replacement dose of HC = 40mg/m2/day

Major stress = 100mg/m2 IV/IM stat (25 < 3, 50 3-12, 100>12y)

33
Q

Cushing syndrome vs. cushing disease

A

Syndrome: sx from excess glucocorticoids e.g. causes include: hypothalamic, pituitary, primary adrenal, ectopic ACTH, iatrogenic (if <5 think McCune Albright)

Disease = excess PITUITARY ACTH production e.g. pit adenoma

34
Q

Normal responses to LOW CALCIUM

  • PTH
  • bones
  • 1,25 OH D
  • urine loss
A
  • increased PTH
  • increased bone resorption
  • increased 1,25 OH D
  • decreased urinary losses
35
Q

Pediatric osteoporosis definition

A
  • low bone mass as measured by DXA
  • clinically significant fracture history
    (fracture history e.g. 2+ long bones by 10 yrs, 3+ long bones by 19 yrs, 1+ vertebral fractures at any age)
36
Q

Screening for T2DM indications

A
  1. 3+ RFs in nonpubertal chidlren beginning at 8 years of age OR 2+ RFs in pubertal children
  2. PCOS
  3. IFG and/or IGT
  4. Use of atypical antipsychotics
37
Q

RFs for T2DM (as indications for screening) (4)

A
  • obesity BMI >= 95th percentile
  • high risk ethnic group e.g. African, Arab, Asian, Hispanic, Indigenous, South Asian
  • 1st degree relative with T2DM and/or exposure to hyperglycemia in utero
  • S+Sx of insulin resistance e.g. acanthosis nigricans, HTN, dyslipidema, NAFLD,
38
Q

SMR in males pubic hair

A 
1 = none
2 = scant, long
3 = darker, starting to curl
4 = resembles adult type but less quantity
5 = adult distribution, spread to thighs
39
Q

SMR in females pubic hair

A 
1 = none
2 = sparse, lightly pigmented
3 = darker, beginning to curl
4 = coarse, less than adult
5 = spread to medial surface of thigh
40
Q

SMR in females breasts

A
  1. preadolescent
  2. breast mound
  3. breast and areola enlarged
  4. areola and papilla form secondary mound
  5. mature, areola part of general breast contour
41
Q

SMR in males testes and penis

A

1 - preadolescent
2 - enlarged scrotum, minimal change in penis
3 - larger scrotum, penis lengthens
4 - larger scrotum and dark, penis glands and breadth increase
5 - adult size

42
Q

Indications for GH (approved by FDA)

A
  1. GH deficiency
  2. Turner syndrome
  3. Noonan syndrome
  4. Chronic renal failure (before transplant)
  5. idiopathic short stature
  6. SGA short stature
  7. Prader Willi
  8. SHOX gene abnormality
43
Q

First line evaluation for amenorrhea

A
  1. TSH, prolactin, FSH, HCG (and u/s if primary amenorrhea)
44
Q

Features of congenital hypothyroidism

A
  • wide open ant and post fontanels
  • HC may be slightly increased
  • prolonged physiologic jaundice
  • feeding difficulties
  • resp difficulties
  • lethargic
  • constipation
  • large abdo with umbilical hernia
  • hypothermia
  • edema of genital
  • CV: slow pulses, heart murmurs, cardiomegaly and pericardial effusions
  • macrocytic anemia
45
Q

Undiagnosed congenital hypothyroidism ( 9 features)

A
  • developmental delays
  • stunted growth, short extremities, HC N or increased,
  • large open fontanels
  • hypertelorism, depressed bridge of nose, narrow palpebral fissures, swollen, eyelids, thick, broad tongue
  • delayed dentition
  • myxedema
  • carotenemia
  • low hairline on forehead
  • hypotonia
46
Q

NBS will miss certain types of hypothyroidism:

A
  • those with delayed TSH elevation
  • central hypopituitary hypothyroidism
  • may need repeat for same sex twins due to transfusion of euthyroid blood from unaffected to affected twin
47
Q

Risk Factors for cerebral edema in DKA

A
  • Age < 5 yrs
  • new onset diabetes
  • greater severity of acidosis
  • high initial serum urea
  • lower initial pCO2
  • rapid admin of hypotonic fluids
  • IV bolus of insulin
  • early Iv insulin infusion
  • failure of serum sodium to rise during treatment
  • use of bicarbonate
48
Q

Screening in T1DM

- nephropathy

A

yearly screening at 12 yrs of age in those with T1DM > 5 yrs

- screen with first morning or random urine ACR

49
Q

Screening in T1DM

- retinopathy

A
  • yearly screening at 15 yrs of age with duration of T1DM>5 yrs
  • can be q2 yrs if good glycemic control etc.
    screen with direct ophthalmoscoy or slit-lamp fundoscopy or fundus photography
50
Q

Screening in T1DM

- neuropathy

A
  • children >= 15 yrs with poor metabolic control after 5 yrs of T1DM
  • examine for sx of numbness, pain etc. and vibration sense, light touch and ankle reflexes
51
Q

Screening in T1DM

- dyslipidemia

A
  • screen at 12 and 17 yrs
    screen < 12 if BMI > 97th, fam history
  • screen with TC, HGL-C, TG, LDL-C
52
Q

Diabetes targets

  • A1C
  • fasting preprandial gluc
  • 2hr postprandial gluc
A

A1c <= 7.5%
pre meal gluc: 4-8
2hr post meal gluc: 5-10

53
Q

Peak growth velocity

  • females
  • males
A

Females: breast stage II to III
Males: genital stages IV-V

54
Q

Causes of hypocalcemia

A
  • neonatal causes
  • hypoparathyroidism
  • vitamin D deficiency
  • calcium deficiency
  • disorders of phosphate, magnesium
55
Q

Lab findings of hypoparathyroidism

A
  • Ca is low
  • PO4 is high
  • ALP is normal or low
  • 1,25 vitamin D = usually low
  • Mg is normal
  • PTH levels are low
  • prolonged QT
  • widespread slowing on EEG
56
Q

Treatment of hypocalcemia

A

Emergency treatment of tetany: IV calcium gluconate
Other treatment:
- calcitriol (active vitamin D)
- adequate calcium intake

57
Q

Hypercalcemia causes

A
  • Neonatal
  • hyperparathyroidism
  • familial hypocalciuric hypercalcemia
  • excessive calcium or vitamin D
  • neoplasia
  • immobilization
58
Q

Treatment of hypercalcemia

A

Immediate therapy:

  • saline hydration
  • +/- loop dieuretic
  • calcitonin
  • bisphosphonates
  • avoidance of Ca containing supplements
  • steroids in some
  • hemodialysis in severe
59
Q

Hypervitaminosis D labs

A
  • elevated Ca
  • elevated 25-OHD
  • elevated PO4
  • PTH appropriately decreased
    +/- renal insufficiency, anemia, normal 1,25-D
60
Q

Micropenis

  • definition
  • investigations
A
  • 2.5SD below mean in size
  • stretched length <1.9cm (2.5cm as per Hamilton)
    Ix:
  • karyotype, anterior pit function, testicular function, MRI brain
61
Q

Central precocious puberty

- etiologies

A
  • idiopathic
  • organic brain lesions
  • hypothalamic hamartoma
  • brain tumors, hydrocephalus, head trauma, myelomeningocele
  • hypothyroidism (prolonged and untreated)
62
Q

Treatment of central precocious puberty

A

GnRH AGONISTS

e.g. leuprolide acetate (lupron)

63
Q

Premature thelarche

  • Features and
  • Findings on eval
  • Management
A
  • isolated breast development in first 2 yrs of life
  • may regress after 2 yr, often persist for 3-5 yr
    Eval:
  • bone age is normal or slightly advanced
  • baseline FSH and the FSH response to GnRH may be greater than normal controls,
  • LH and estradiol are undetectable
  • pelvic u/s and GnRH stim test are rarely indicated, Mgmt: need continued observation!
64
Q

Premature adrenarche

- features

A
  • appearance of sexual hair before age 8 in girls or 9 in males without evidence of maturation
  • often slightly advanced in height and osseous maturation
  • slowly progressive and no therapy required
65
Q

Atypical premature adrenarche

A

Pts with precocious pubarche that have 1+ systemic androgen effect:

  • marked growth acceleration, clitoral/phallic enlargement, cystic acne or advanced bone age
  • requires ACTH stim test and 17OHP to rule out nonclassical CAH
66
Q

PCOS triad

A
  1. oligo-ovulation or anovulation
  2. clincial or biochemical hyperandrogenisms
  3. ovaries with polycystic morphology on u/s

(generally need 2 of 3)

67
Q

Vitamin D deficient rickets lab findings

  • Ca
  • PO4
  • ALP
  • 25-OH D
  • urine Ca
  • urine PO4
A 
Calcium: normal or low
PO4: low
25-OH D: low
1,25-OH D: anything
ALP: high
urine Ca: low
Urine PO4: high
68
Q

Manifestations of rickets

A 
General: FTT, listless, weakness, fractures,  protrubing abdomen
Head: craniotabes, frontal bossing, delayed fontanel closure, delayed dentition and caries, craniosynostosis
Trunk: rachitic rosary, scoliosis, kyphosis, lordsis
Extremities: enlargement of wrists and ankels, valgus/varus deformities
Hypocalcemic sx (tetany, seizures, laryngeal spasm)

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