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1
Endocrinology
Pediatric Board Review
Calcium
An otherwise healthy 6-week infant presents with a
generalized seizure. She is exclusively breast fed. The
child is somewhat sleepy with a non focal examination.
Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1
The most likely diagnosis is:
1. Pseudohypoparathyroidism
2. Hypoparathyroidism
3. Vitamin D deficiency
4. Albright’s hereditary osteodystrophy
10
2
Actions of PTH
1.
2.
Ca PO4
NET EFFECT
25 OH Vit D
1,25 (OH)2 Vit D
1 hydroxylase
3.
Gut
This same 6-week infant with hypoparathyroidism
(Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1)
What is an important diagnostic consideration
(i.e. what is the underling disorder causing the
hypoparathyroidism)?
DiGeorge syndrome – thymic aplasia, congenital heart
disease, immune deficiency
Biochemical changes in rickets
Ca PO4 Bone Urine
NMinimal
changesStage 1
N Rickets
Aminoaciduria
Phosphaturia
Glycosuria
Bicarbonaturia
Stage 2
3
Initial
Ca:
PO4:
Alk Phos:
9.7
3.1
2514
2 ½ weeks
9.8
3.5
2185
4 months
10.5
6.5
518
Which is consistent with vitamin D deficiency
rickets?
A. Normal Normal Low
B. Low Low Low
C. Low High High
D. Low Normal Normal
E. Normal Low High
Calcium Phos Alk Phos 10
Choose correct answer
A. Vitamin D deficiency rickets
B. Renal osteodystrophy (renal rickets)
C. Both
D. Neither
1. Increased phosphate level
2. Increased PTH level
3. Increased creatinine level
4
THYROID
Baby A, born on 5/27/10. Newborn screening tests,
performed on 5/29/10 revealed: Normal range
TSH 37 µIU/ml < 20
T4 10.1 µg/dl 9-19
Which statement is most accurate:
A. Baby A has congenital
hypothyroidism warranting urgent
therapy
B. Baby A will develop mental
retardation if untreated
C. Baby A likely does not have any
thyroid abnormality
D. Baby A has an altered
hypothalamic set-point for T4
10
5
Venipuncture: (1/25/10)
Normal range
TSH 488 IU/ml (0.3-5.5)
T4 1.2 g/dl (4.5-12.5)
You are contacted by your state Neonatal Thyroid
Screening Program. Baby X was born on 1/4/10.
His newborn screening tests, performed on 1/6/10
revealed:
Initial filter paper
Normal range
TSH >200 IU/ml < 20
T4 2.1 g/dl 9-19
Congenital hypothyroidism
Thyroid dysgenesis/agenesis
Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks
1 in 32,000]
2:1 female to male ratio
Clinical features include:
hypotonia, enlarged posterior fontanelle,
umbilical hernia, indirect hyperbilirubinemia
Laboratory findings: Very high TSH and low T4
Therapy: Thyroxine – keep TSH in normal range
6
6 month female with
congenital hypothyroidism..following 4 months
therapy
A baby with gastroschisis has the following TFTs on day 5
of life:
T4 2.1 μg/dL (4.5-12.5)
TSH 2.3 μIU/mL (0.3-5.0)
The most likely diagnosis is:
A. Hypothyroidism due to thyroid dysgenesis
B. Central hypothyroidism
C. TBG deficiency
D. Hypothyroidism from excess iodine exposure
E. Normal thyroid function (as the TSH is normal)
10
Central hypothyroidism - rare
TBG deficiency
1:2800
vs.
7
Thyroxine (T4)
Major product secreted by the thyroid
Circulates bound to thyroid binding proteins
- thyroid binding globulin (TBG)
Only a tiny fraction (< 0.1%) is free and diffuses
into tissues
When we measure T4, we measure the T4 that is
bound to protein
The level of T4 is therefore largely dependent on
the amount of TBG
Changes in T4 may reflect TBG variation rather
than underlying pathology
TBG
deficiency
Central
hypothyroidism
Free T4 Low Normal
TBG level Normal Low
T3RU Low High
Thyroid function in a 17 year old: Normal range
TSH: 3.7 µIU/ml 0.3-5.5
T4: 13.4 µg/dl 4.5-12
Which of the following medication could explain the thyroid
function abnormality
A. INH
B. Retinoid acid
C. Ciprofloxacin
D. Ortho Tri-Cylen
E. Doxycycline
10
8
Conditions that cause alterations in TBG
Increased TBG Decreased TBG
Infancy Familial deficiency
Estrogen Androgenic steroid treatment
- OC Pill Glucocorticoids (large dose)
- pregnancy Nephrotic syndrome
Familial excess Acromegaly
Hepatitis
Tamoxifen treatment
A 12-yr female has diffuse enlargement of the thyroid. She
is asymptomatic. Her disorder is most likely associated with
which of the following pathological processes
A. Infectious
B. Inflammatory
C. Autoimmune
D. Toxic (drug)
E. Neoplastic
10
Normal thyroid
Hashimoto thyroiditis
9
DC 16 year 7 month
Growth failure x 1 1/2 years
Labs:
TSH: 1008 µIU/ ml (0.3-5.0)
T4: <1.0 µg/dl (4-12)
Antithyro Ab. 232 U/ml (0-1)
A-perox Ab. 592 IU/ml (<0.3)
Prolactin: 29 ng/ml (2-18)
Cholesterol: 406 mg/dl (100-170)
DC
Start of thyroxine
Background:
Autoimmune destruction of the thyroid
Family history in 30-40%
Lymphocytic infiltration
Clinical:
Growth failure, constipation, goiter, dry skin, weight
gain, slow recoil of DTR
Laboratory:
High TSH
Anti-thyroglobulin and anti-peroxidase antibodies
Therapy:
Thyroxine
Hashimoto thyroiditis
10
15 year old female with a history of easy fatigability.
Found to have an elevated pulse rate at recent MD visit
Thyroid function: Normal range
TSH < 0.1 IU/ml 0.3-5.5
T4 14.8 g/dl 4.5-12
T3 580 ng/dl 90-190
Restlessness,
poor attention spanEye changes
Goiter
Tachycardia, wide pulse
pressure
Increased GFR
- polyuria
DiarrheaMenstrual
abnormalities
Myopathy
Antithyroid medication (Methimazole or Propylthiouracil [PTU])
Pros : 25% remission rate every 2 years
Cons: Drug induced side effects
- skin rashes, agranulocytosis, lupus-like reaction
Radioactive iodine (131I)
Pros : Easy. Essentially free of side effects
Cons: Long term hypothyroidism
Surgery
Blockers if markedly hyperthyroid
Therapy for Graves disease:
11
Sexual differentiation
Ambiguous genitalia is found in a newborn. The baby is
noted to be hyperpigmented. Ultrasound demonstrates the
presence of a uterus. The most useful test to aid in the
diagnosis of this medical condition is:
A. Testosterone
B. 17-hydroxyprogesterone
C. Serum sodium and potassium
D. DHEAS
E. DHEAS/androstenedione
ratio
10
Cholesterol
Pregnenolone
Progesterone
DOCA
Corticosterone
ALDOSTERONE
17 (OH) pregnenolone DHEA
17 (OH) progesterone Androstenedione
Compound S
CORTISOL
TESTOSTERONE
Desmolase
3--HSD 3--HSD 3--HSD
17-OH
17-OH
21-OH 21-OH
11-OH 11-OH
12
If she has salt wasting congenital adrenal
hyperplasia, which abnormalities are likely to
develop. True or False for each
a) Increased serum potassium
b) Decreased serum sodium
c) Decreased bicarbonate
d) Decreased plasma cortisol
e) Increased plasma renin activity
A 1-year male infant has non palpable testes.
Of the following, the most appropriate next step would be:
A. Re-examination in 18 months
B. Refer the patient for an
exploratory laparotomy
C. Begin therapy with LHRH
D. Measure the plasma
testosterone after stimulation
with HCG
E. Begin therapy with
testosterone enanthate, 50 mg
IM monthly for 3 months.
10
History
9 day old male infant
1 day history of decrease feeding, vomiting and lethargy.
Examination
Ill appearing infant with poor respiratory effort
Vital signs: T 99 F HR 100/min BP 61/40 RR 24/min
Resp: Subcostal retractions but clear to auscultation
Cardiac: Regular rate and rhythm. Normal S1 and S2
Abdomen: Soft, non distended. Non tender. No HSM
Neuro: Lethargic. No focal deficit
Genitalia: Normal male. Bilateral descended testes
13
Laboratory data:
WBC 16.7
Hb 16.4
Hct 49
Plt 537 K
Na 121
K 9.3
Cl 83
CO2 6.7
Glucose 163
BUN/Creat 33/0.2
CSF:
Chemistry: Protein 74 Glucose 82
Microscopy: WBC 6 RBC 100
Emergency therapy
Fluid resuscitation:20 ml/kg Normal saline
Glucocorticoid2 mg/kg Solucortef IV
Monitor EKG
Modes of presentation
Classical
Simple virilizing
Virilizing with salt loss
“Non classical” / Late onset
14
Therapy and evaluation of therapy
Glucocorticoid (Hydrocortisone)
Monitor growth, 17-OHP, urinary pregnanetriol
Fluorocortisol (Florinef 0.1 – 0.45 mg/day)
Blood pressure, plasma renin activity (PRA)
Supplemental salt
Until introduction of infant food
History
15 year female presents with primary amenorrhea
Breast development began at 10 years
Examination
Height: 5 ft 7 in Weight 130 lb
Tanner 5 breast development
Scant pubic hair
What is your diagnosis?
XY Genotype
Testosterone
Estradiol
Androgen
Receptor
Estrogen
Receptor
Complete androgen insensitivity
15
15 yr female presents with primary amenorrhea.
Breast development began at 10 y
Tanner 5 breasts, scant pubic hair
Which of the following clinical features is the most likely to
give you the correct diagnosis
A. Blood pressure in all 4
extremities
B. Careful fundoscopic examination
C. Rectal examination
D. Measurement of blood pressure
with postural change
E. Cubitus valgus and shield
shaped chest
10
TESTIS
Leydig
cellsSertoli
cells
Gonadal Primordia
Testosterone
Wolfian ducts DHT
Normal male
ext. genitalia
Epidymus
Vas deferens
Seminal vesicles
Female
OVARY
No SRY
No AMH No testosterone
Mullerian
ducts
Wolfian duct
regression
Normal female
external genitalia
Fallopian tubes
Uterus
Upper vagina
No AMH
Mullerian duct
regression
nor DHT
Gonadal Primordia
Y
Chromosome TESTISSRY
Leydig
cellsSertoli
cells
TestosteroneAMH
Mullerian duct
regression Wolfian ducts DHT
Epidymus
Vas deferens
Seminal vesicles
Normal male
ext. genitalia
No AMH No testosterone
Mullerian
ducts
Wolfian duct
regression
Normal female
external genitalia
Fallopian tubes
Uterus
Upper vagina
nor DHT
16
Gonadal Primordia
Y
Chromosome TESTISSRY
Leydig
cellsSertoli
cells
TestosteroneAMH
Mullerian duct
regression Wolfian ducts DHT
Epidymus
Vas deferens
Seminal vesicles
Normal male
ext. genitalia
No AMH No testosterone
Mullerian
ducts
Wolfian duct
regression
Normal female
external genitalia
Fallopian tubes
Uterus
Upper vagina
nor DHT
Early Puberty
The earliest sign of puberty in a male is:
A. Enlargement of the penis
B. Enlargement of the testes
C. Growth acceleration
D. Pubic hair growth
E. Axillary hair growth
5
17
2 year old girl with breast development. No growth
acceleration. No bone age advancement
No detectable estradiol, LH or FSH
The most likely diagnosis is:
2 year old girl with breast development. No growth
acceleration. No bone age advancement
No detectable estradiol, LH or FSH
The most likely diagnosis is:
A. Ingestion of her
mother’s OCPs
B. Precocious puberty
C. Premature adrenarche
D. Premature thelarche
E. McCune Albright
Syndrome
10
Benign Premature Thelarche
Isolated breast development
– 80% before age 2
– Rarely after age 4
Not associated with other signs of puberty (growth acceleration, advancement of bone age)
Children go on to normal timing of puberty and normal fertility
Benign process
Routine follow-up
18
5 year female with 6 months of pubic hair growth. Very fine
axillary hair as well as adult odor to sweat.
No breast development, no growth spurt
The most likely diagnosis is:
5 year female with 6 months of pubic hair growth. Very fine
axillary hair as well as adult odor to sweat.
No breast development, no growth spurt
The most likely diagnosis is:
A. Precocious puberty
B. Benign premature
adrenarche
C. Non-classical congenital
adrenal hyperplasia
D. Adrenal tumor
E. Pinealoma
10
Benign Premature Adrenarche
Production of adrenal androgens before true pubertal development begins
Presents as isolated pubic hair in mid childhood
– No growth acceleration
– No testicular enlargement in boys
If normal growth rate, routine follow-up
If accelerated growth and/or bone age advancement, screen for
– CAH
– Virilizing tumor (adrenal/gonadal)
19
Choose correct answer
A. Premature theralche
B. Premature adrenarche
C. Both
D. Neither
1. Growth acceleration
2. Normal adolescent sexual development
3. Onset of gonadal function usually in 3-4 years
You suspect a 16 year female has Turner syndrome. The
most definitive diagnostic test is
A. Buccal smear
B. Chromosome analysis
C. Measuring her FSH and
LH
D. Determining her bone
age
E. Determining her
testosterone level
5
5 year old girl with pubic hair and rapid growth.
She has no breast development
Possible sources of androgens:
1.Liver
2.Adrenal
3.Ovary
4.Pituitary
5.Pineal
20
5 year old girl with pubic hair and rapid growth.
She has no breast development
Which of the following should be considered
Answer T or F for each:
a) Central precocious puberty
b) Congenital adrenal hyperplasia
c) McCune Albright syndrome
d) Benign premature adrenarche
e) Adrenal tumor
When does puberty occur?
Classic teaching
– 8 -13 in girls (menarche ~ 2 years
after onset of puberty)
– 9 -14 in boys
Case:
Breast development: 6 years
Mother had menarche: 9.5 years
Why
Reactivation of
hypothalamic –
pituitary –gonadal
axis
21
Gonadatropin dependent
(central) precocious puberty
Clock turns on early
Idiopathic
> 95 % girls~ 50 % boys
– Hypothalamic hamartoma (Gelastic seizures)
– NF (optic glioma)
– Head trauma
– Neurosurgery
– Anoxic injury
– Hydrocephalus
Treatment
Why
– Psychosocial
– Height
What
– GnRH agonist
Gonadotropin independent
precocious puberty
22
7 year male presents with 6 month history of pubic
and axillary hair growth as well as adult body odor.
Mother thinks he is growing faster than his peers
No exposure to androgens
PM&SH – nil of note
Mother had menarche at 12 yr
Father had normal timing of his puberty
Medications – none
Height 50th percentile (last height at 25th)
Weight 40th percentile
No café au lait macules
No goiter
Heart and lungs: normal
Abdomen: Firm hepatomegaly with irregular border
Prepubertal Asymmetric Pubertal
Adrenal source Enlarged testicle Precocious puberty
Height 50th percentile (last height at 25th)
Weight 40th percentile
No café au lait macules
No goiter
Heart and lungs: normal
Abdomen: Firm hepatomegaly with irregular border
Genitalia:
Pubic hair - Tanner 2
Scrotal thinning
Testes 5 ml bilaterally (pubertal >3 ml)
Rest unremarkable
23
7 year male with signs of puberty
Pubertal
Central precocious
puberty
Gonadotropins
LH
GLeydig cell
LABS:
Testosterone 48 ng/dl (<10)
FSH <0.1 mIU/mL
LH <0.1 mIU/mL
TSH 1.0 μIU/mL
T4 8.9 μg/dL
Precocious puberty in the male
Gonadotropins
Prepubertal Pubertal
Gonadotropin independent Central precocious
precocious puberty puberty
HCG LH
*McCune Albright
syndrome
G G*
Familial male
Precocious puberty
(testotoxicosis)
1. Gonadotropin independent PP
2. Polyostotic Fibrous Dysplasia
3. Café au lait macules
Leydig cell
Final diagnosis: Gonadotropin independent precocious
puberty secondary to an βHCG secreting hepatoblastoma
24
5 year old with breast development
and growth acceleration
- Estradiol 62 pg/ml (<10)
- FSH <0.1 mIU/mL
- LH <0.1 mIU/mL
Gonadotropin independent
precocious puberty
McCune Albright syndrome:
1. Café au lait macules
2. Gonadotropin independent
precocious puberty
3. Polyostotic fibrous dysplasia
Growth disorders and
delayed puberty
25
Delayed puberty
Hypogonadism
Hypergonadotropic
Hypogonadism (↑FSH, LH)
Primary gonadal failure- Chromosomal
- iatrogenic (cancer therapy)
- autoimmune oophoritis
- galactosemia
- test. biosynthetic defect
Hypogonadotropic
Hypogonadism (FSH, LH)
Constitutional
delay
Central
Hypogonadism- Isolate gonad. def.
- MPHD
- Kallmann (anosmia)
- Functional
A 15 yr boy has short stature and delayed puberty. He is
now in early puberty (Tanner 2). His parents are of average
stature. His height and weight are just below 3rd percentile.
All of the following are likely EXCEPT:
A. A bone age of 12 ½ years
B. Growth hormone deficiency
C. Adult height in the normal range
D. Acceleration of growth and sexual maturation over the next 2 years.
E. History of normal length and weight at birth
10
A 15 yr male has delayed puberty. He also has headaches,
diplopia and increased urination. His height is < 3rd
percentile.
Which of the following is the most likely diagnosis?
A. Diabetes mellitus
B. Pinealoma
C. Cerebellar tumor
D. Craniopharyngioma
E. Pituitary adenoma
10
26
A 14 yr male has tender gynecomastia (3 cm in diameter
bilaterally). He is in early to mid puberty. In most cases the
best management for this gynecomastia is:
A. Treatment with an anti-
estrogen (e.g.
Tamoxifen)
B. Treatment with an
aromatase inhibitor
C. Treatment with a
dopamine agonist
(bromocryptine)
D. Surgery
E. Reassurance
10
Diabetes
A 12 year female patient presents with a 4 week history of
polyuria, polydipsia, and marked weight loss.
She is noted to have deep, sighing respiration.
Glucose is 498 mg/dL, pH is 7.06. Her electrolytes show
Na 132, K 4.8, Cl 95 CO2 6 BUN 20 Creat 0.9.
The MOST important initial management is:
A. insulin drip 0.1 u/kg/hr
B. ½ NS with 40 meq K at
2x maintenance
C. Bicarb 1 meq/kg slowly
over 1 hour
D. 20 ml/kg normal saline
bolus IV
10
27
GTT in a 16 year obese female:
Time Glucose (mg/dL)
-0- 109
-120- 188
Which of the following statements are correct?
This patient has:
A. Type 2 diabetes
B. Impaired glucose
tolerance but normal
fasting glucose
C. Normal glucose
tolerance
D. Both impaired fasting
glucose and impaired
glucose tolerance
10
Fasting 2 hr post load
< 100 < 140
Normal
≥ 100 ≥ 140
< 126 < 200
Pre-diabetes
≥ 126 ≥ 200Diabetes
Definition of diabetes
This obese patient with IFG and IGT is at risk for the
development of all the following EXCEPT
A. Type 2 diabetes
B. Dyslipidemia
C. Hypertension
D. Slipped capital femoral
epiphysis
E. Hashimoto thyroiditis
10
Metabolic syndrome
28
A 13 year male has new onset type 1 diabetes mellitus.
Therapy for this child may include all of the following
EXCEPT:
A. Glargine (Lantus) and Lipro insulin (Humalog)
B. Detemir (Levemir) and Aspart insulin (Novolog)
C. Metformin
D. Analog insulin administered via an insulin pump
10
Miscellaneous
Side effects of corticosteroids include all of the following
except
A. hypertension
B. hypoglycemia
C. decrease bone
mineralization
D. myopathy
E. cataracts
10
29
What is the most likely diagnosis in this newborn infant?
A. Mother has SLE
B. Anasarca from cardiac failure
C. Systemic allergic reaction
D. Congenital nephrotic syndrome
E. Turner syndrome
10
5 year old male with short stature
A. Turner syndrome
B. VATER syndrome
C. Albright’s
hereditary
osteodystrophy
D. Noonan syndrome
E. Goldenhar
syndrome
10
A moderately obese adolescent female has irregular
periods, hirsutism and acne.
Of the following, which is the most likely diagnosis?
A. Cushing syndrome
B. Polycystic ovarian
syndrome
C. Virilizing adrenal
tumor
D. Non-classical CAH
E. Hyperprolactinemia
10
30
Choose correct answer
A. Diabetes mellitus
B. Diabetes insipidus
C. Both
D. Neither
1. Osmolality of serum > 300 Osm/L
2. Osmolality of urine > 500 mOsm/L
3. Hypernatremia
2 Na + BUN/2.8 + Gluc/18
Choose correct answer
A. Diabetes mellitus
B. Diabetes insipidus
C. Both
D. Neither
1. Osmolality of serum > 300 Osm/L
2. Osmolality of urine > 500 mOsm/L
3. Hypernatremia
2 Na + BUN/2.8 + Gluc/18
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