Endocrinology Flashcards
1
Q
Pathologic gynecomastia
A
pre-pubertal age
- rapid progression
- abnormal testes
- galactorrhea
- severe acne
- HTN
2
Q
Gynecomastia investigations (specific tests)
A
LH, FSH, testosterone, estradiol, hCG, TSH, prolactin, testicular or adrenal ultrasound
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
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
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)
6
Q
RFs for GH deficiency
A
congenital: septo-optic dysplasia
acquired: craniopharyngioma, pituitary adenomas
7
Q
Central precocious puberty investigation for males and females <= 5 yrs
A
MRI pituitary
8
Q
Criteria for diabetes diagnosis
A
- Fasting BG > 7
- Random BG > 11.1
- 2hr OGT glucose > 11.1
9
Q
ISF calculation
A
100/ Total daily dose
10
Q
DKA criteria
A
- BG >11
- pH < 7.3 or bicarb < 15
- ketonemia (blood BHB>= 3 or mod-large urine ketones)
11
Q
Female puberty
A
- boobs
- pubes
- grow
- flow (typically at breast stage 4)
12
Q
Male puberty
A
- testes increase
- then phallus and scrotum
- then pubic hair
- height occurs when testes exceed 10-12 mL
13
Q
Testicular size
prepuberty vs. puberty
A
prepuberty < 2.5cm (4mL)
Puberty > 2.5cm (4mL)
14
Q
Delayed puberty age
A
absence of secondary sexual characteristics after:
- age 13 in girls and
- after age 14 in boys
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)
16
Q
Turner Syndrome
puberty and features
A
45 X to mosaicism (45 X, 46XX)
- mean adult height 144cm
- gonadal failure 96%
- infertility 99%
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
18
Q
Premature thelarche features
A
- isolated breast development
- 6-23 months
- does not exceed SMR III
NO CHANGE in growth velocity/growth percentile
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
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
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
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
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)
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
25
46 XY DSD
- 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
26
Congenital hypothyroidism newborn screen
- TSH
will not pick up CENTRAL hypothyroidism
but majority is primary hypothyroidism aka thyroid dysgenesis (80%)
27
chronic lymphocytic thyroiditis (Hashimotos thyroiditis)
| features
- diffuse enlargement of thyroid
- increased TSH
- positive antibodies (anti-thyroid peroxidase, anti-thyroglobulin)
28
Graves disease
| features
- 95% have goiter
- thryotropin receptor stimulating antibody
- eye disease less common in chidlren than adoelscents
29
Treatment for hyperthyroidism
Methimazole
| PTU causes liver failure
30
CAH features
| - genetics and defects
- autosomal recessive
- most common = 21 hydroxylase (75% are classic salt wasting)
- elevated 17 OHP
31
Addison disease features
Nonspecific sx: weight loss, fatigue, hypotension, hyperpigmentation, hyponatremia, hyperkalemia, hypoglycemia
- elevated Renin and ACTH
- early am cortisol is low
- negative corticol stim test
32
Treatment of adrenal crisis
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
Cushing syndrome vs. cushing disease
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
Normal responses to LOW CALCIUM
- PTH
- bones
- 1,25 OH D
- urine loss
- increased PTH
- increased bone resorption
- increased 1,25 OH D
- decreased urinary losses
35
Pediatric osteoporosis definition
- 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
Screening for T2DM indications
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
RFs for T2DM (as indications for screening) (4)
- 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
SMR in males pubic hair
```
1 = none
2 = scant, long
3 = darker, starting to curl
4 = resembles adult type but less quantity
5 = adult distribution, spread to thighs
```
39
SMR in females pubic hair
```
1 = none
2 = sparse, lightly pigmented
3 = darker, beginning to curl
4 = coarse, less than adult
5 = spread to medial surface of thigh
```
40
SMR in females breasts
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
SMR in males testes and penis
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
Indications for GH (approved by FDA)
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
First line evaluation for amenorrhea
1. TSH, prolactin, FSH, HCG (and u/s if primary amenorrhea)
44
Features of congenital hypothyroidism
- 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
Undiagnosed congenital hypothyroidism ( 9 features)
- 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
NBS will miss certain types of hypothyroidism:
- 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
Risk Factors for cerebral edema in DKA
- 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
Screening in T1DM
| - nephropathy
yearly screening at 12 yrs of age in those with T1DM > 5 yrs
| - screen with first morning or random urine ACR
49
Screening in T1DM
| - retinopathy
- 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
Screening in T1DM
| - neuropathy
- 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
Screening in T1DM
| - dyslipidemia
- screen at 12 and 17 yrs
screen < 12 if BMI > 97th, fam history
- screen with TC, HGL-C, TG, LDL-C
52
Diabetes targets
- A1C
- fasting preprandial gluc
- 2hr postprandial gluc
A1c <= 7.5%
pre meal gluc: 4-8
2hr post meal gluc: 5-10
53
Peak growth velocity
- females
- males
Females: breast stage II to III
Males: genital stages IV-V
54
Causes of hypocalcemia
- neonatal causes
- hypoparathyroidism
- vitamin D deficiency
- calcium deficiency
- disorders of phosphate, magnesium
55
Lab findings of hypoparathyroidism
- 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
Treatment of hypocalcemia
Emergency treatment of tetany: IV calcium gluconate
Other treatment:
- calcitriol (active vitamin D)
- adequate calcium intake
57
Hypercalcemia causes
- Neonatal
- hyperparathyroidism
- familial hypocalciuric hypercalcemia
- excessive calcium or vitamin D
- neoplasia
- immobilization
58
Treatment of hypercalcemia
Immediate therapy:
- saline hydration
- +/- loop dieuretic
- calcitonin
- bisphosphonates
- avoidance of Ca containing supplements
- steroids in some
- hemodialysis in severe
59
Hypervitaminosis D labs
- elevated Ca
- elevated 25-OHD
- elevated PO4
- PTH appropriately decreased
+/- renal insufficiency, anemia, normal 1,25-D
60
Micropenis
- definition
- investigations
- 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
Central precocious puberty
| - etiologies
- idiopathic
- organic brain lesions
- hypothalamic hamartoma
- brain tumors, hydrocephalus, head trauma, myelomeningocele
- hypothyroidism (prolonged and untreated)
62
Treatment of central precocious puberty
GnRH AGONISTS
e.g. leuprolide acetate (lupron)
63
Premature thelarche
- Features and
- Findings on eval
- Management
- 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
Premature adrenarche
| - features
- 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
Atypical premature adrenarche
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
PCOS triad
1. oligo-ovulation or anovulation
2. clincial or biochemical hyperandrogenisms
3. ovaries with polycystic morphology on u/s
(generally need 2 of 3)
67
Vitamin D deficient rickets lab findings
- Ca
- PO4
- ALP
- 25-OH D
- urine Ca
- urine PO4
```
Calcium: normal or low
PO4: low
25-OH D: low
1,25-OH D: anything
ALP: high
urine Ca: low
Urine PO4: high
```
68
Manifestations of rickets
```
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)
```
