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Endocrinology

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Pediatric Board Review Endocrinology Graeme Frank, MD Calcium An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. – PowerPoint PPT presentation

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Title: Endocrinology


1
Endocrinology
Pediatric Board Review
Graeme Frank, MD
2
Calcium
3
  • 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.Lab dataGlucose 88
    mg/dLSodium 141 mEq/LCalcium 5.1
    mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL
  • The most likely diagnosis is
  • Pseudohypoparathyroidism
  • Hypoparathyroidism
  • Vitamin D deficiency
  • Albrights hereditary osteodystrophy

4
Actions of PTH

5
  • 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.Lab dataGlucose 88
    mg/dLSodium 141 mEq/LCalcium 5.1
    mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL
  • The most likely diagnosis is
  • Pseudohypoparathyroidism
  • Hypoparathyroidism
  • Vitamin D deficiency
  • Albrights hereditary osteodystrophy

6
  • 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.Lab dataGlucose 88
    mg/dLSodium 141 mEq/LCalcium 5.1
    mg/dLPhosphorus 9.1 mg/dLMagnesium 2.1 mg/dL
  • What is an important diagnostic consideration
    (i.e. what else is the child at risk for)
  • DiGeorge syndrome thymic aplasia, congenital
    heart disease, immune deficiency

7
Biochemical changes in rickets
Ca PO4 Bone Urine
Stage 1
Stage 2
8
Initial
Ca PO4 Alk Phos
9.7 3.1 2514
9
Which is consistent with vitamin D deficiency
rickets?
CALCIUM PHOS ALK PHOS
  • Normal Normal Low
  • Low Low Low
  • Low Increased Increased
  • Low Normal Normal
  • Normal Low Increased

10
Choose correct answer
  • Vitamin D deficiency rickets
  • Renal osteodystrophy (renal rickets)
  • Both
  • Neither

B
1. Increased phosphate level 2. Increased PTH
level 3. Increased creatinine level
C
B
11
THYROID
12
  • A 15 day infant has an abnormal newborn thyroid
    screen result The baby was born on 5/27/07.
    His newborn screening tests, performed on 5/29/07
    revealed
  •   Normal range
  • TSH 37 ?IU/ml lt 20
  • T4 10.1 ?g/dl 9-19
  • This child
  • Has congenital hypothyroidism and should be
    referred to a congenital hypothyroidism treatment
    center
  • Will likely develop mental retardation if
    untreated
  • Likely does not have any thyroid abnormality
  • Has an altered hypothalamic set-point for T4
  • Should be started on thyroxine replacement
    immediately
  •  

13
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14
You are contacted by your state Neonatal Thyroid
Screening Program. Baby X was born on 1/4/01.
His newborn screening tests, performed on 1/6/01
revealed   Initial filter paper
Normal range TSH gt200 ?IU/ml lt 20 T4
2.1 ?g/dl 9-19  
Venipuncture (1/25/01) Normal range TSH 488
?IU/ml (0.3-5.5) T4 1.2 ?g/dl (4.5-12.5)
15
Congenital hypothyroidism
  • Thyroid dysgenesis/agenesis
  • Prevalence 1 in 4,000 Whites 1 in 2,000 Blacks
    1 in 32,000
  • 21 female to male ratio
  • Clinical features includehypotonia, enlarged
    posterior fontanelle, umbilical hernia, indirect
    hyperbilirubinemia
  • Laboratory findings Very high TSH and low T4
  • Therapy Thyroxine keep TSH in normal range

16
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17
6 month female with congenital hypothyroidism
18
  • A baby who was born with gastroschisis has an
    abnormal newborn thyroid screen at 3 days which
    revealed a low T4 and normal TSH. Repeat
    venipuncture showedT4 2.1 µg/dL
    (4.5-12.5) TSH 2.3 µIU/mL (0.3-5.0)
  • The most likely diagnosis is
  • Hypothyroidism due to dysgenesis of the thyroid
    gland
  • Central hypothyroidism
  • TBG deficiency
  • Hypothyroidism from excess iodine exposure
  • Normal thyroid function (as the TSH is normal)

19
Central hypothyroidism - rare
vs.
TBG deficiency12800
20
Thyroxine (T4)
  • Major product secreted by the thyroid
  • Circulates bound to thyroid binding proteins -
    thyroid binding globulin (TBG)
  • Only a tiny fraction (lt 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

21
TBG deficiency
Central hypothyroidism
Free T4 Low Normal TBG level Normal
Low T3RU Low High
22
17 year old female who complains of easy
fatigability. Her mother developed Graves
disease at the same age.  
  • Thyroid function Normal range
  • TSH 3.7 ?IU/ml 0.3-5.5
  • T4 13.4 ?g/dl 4.5-12
  •  

23
17 year old female who complains of easy
fatigability. Her mother developed Graves
disease at the same age.  
  • Thyroid function Normal range
  • TSH 3.7 ?IU/ml 0.3-5.5
  • T4 13.4 ?g/dl 4.5-12
  •  
  • Which of the following medication could explain
    the thyroid function abnormality
  • INH
  • Ortho Tri-Cylen
  • Retinoid acid
  • Ciprofloxacin
  • Doxycycline

24
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
25
  • 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
  • Infectious
  • Inflammatory
  • Autoimmune
  • Toxic (drug)
  • Neoplastic

26
Normal thyroid
27
DC
  • 16 year 7 month
  • Growth failure x 1 1/2 years

  • LabsTSH 1008 µIU/ ml (0.3-5.0)T4
    lt1.0 µg/dl (4-12)Antithyro Ab. 232
    U/ml (0-1)A-perox Ab. 592 IU/ml (lt0.3)Prolact
    in 29 ng/ml (2-18)
  • Cholesterol 406 mg/dl (100-170)

28
DC
Start of thyroxine
29
Hashimoto thyroiditis
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
30
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 lt 0.1
?IU/ml 0.3-5.5 T4 14.8 ?g/dl 4.5-12 T3 580
ng/dl 90-190
31
Restlessness, poor attention span
Eye changes
Goiter
Tachycardia, wide pulse pressure
Increased GFR - polyuria

Diarrhea
Menstrual abnormalities
Myopathy
32
Therapy for Graves disease
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
33
Sexual differentiation
34
  • 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
  • Testosterone
  • 17-hydroxyprogesterone
  • Serum sodium and potassium
  • DHEAS
  • DHEAS/androstenedione ratio

35
Cholesterol
Desmolase
17-OH
Pregnenolone
17 (OH) pregnenolone
DHEA
3-?-HSD
3-?-HSD
3-?-HSD
17-OH
17 (OH) progesterone
Androstenedione
Progesterone
21-OH
21-OH
DOCA
Compound S
TESTOSTERONE
11-OH
11-OH
Corticosterone
CORTISOL
ALDOSTERONE
36
  • If she has salt wasting congenital adrenal
    hyperplasia, which abnormalities are likely to
    develop. True or False for each
  • Increased serum potassium
  • Decreased serum sodium
  • Decreased bicarbonate
  • Decreased plasma cortisol
  • Increased plasma renin activity

T
T
T
T
T
37
  • A 1-year male infant has non palpable testes.
    Of the following, the most appropriate next step
    would be
  • Schedule a re-examination in 18 months
  • Refer the patient for an exploratory laparotomy
  • Begin therapy with LHRH
  • Measure the plasma testosterone after stimulation
    with HCG
  • Begin therapy with testosterone enanthate, 50 mg
    IM monthly for 3 months.

38
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 Reg
ular 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
39
Laboratory data
Na 121 K 9.3 Cl 83 CO2
6.7 Glucose 163 BUN/Creat 33/0.2
WBC 16.7 Hb 16.4 Hct 49 Plt 537 K
CSF Chemistry Protein 74 Glucose
82 Microscopy WBC 6 RBC 100
40
Emergency therapy
  • Fluid resuscitation20 ml/kg Normal saline
  • Glucocorticoid2 mg/kg Solucortef IV
  • Monitor EKG

41
Modes of presentation
  • Classical
  • Simple virilizing
  • Virilizing with salt loss
  • Non classical / Late onset

42
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

43
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?
44
Complete androgen insensitivity
XY Genotype
45
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
  • Which of the following clinical features is the
    most likely to give you the correct diagnosis
  • Blood pressure in all 4 extremities
  • Careful fundoscopic examination
  • Rectal examination
  • Measurement of blood pressure with postural
    change
  • Cubitus valgus and shield shaped chest

46
Early Puberty
47
  • The earliest sign of puberty in a male is
  • Enlargement of the penis
  • Enlargement of the testes
  • Growth acceleration
  • Pubic hair growth
  • Axillary hair growth

48
  • 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
  • Ingestion of her mothers OCPs
  • Precocious puberty
  • Premature adrenarche
  • Premature thelarche
  • McCune Albright Syndrome

49
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

50
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 exposure to androgens
Growth chartNormal growth without growth
acceleration
  • Most likely diagnosis
  • Precocious puberty
  • Benign premature adrenarche
  • Non-classical congenital adrenal hyperplasia
  • Adrenal tumor
  • Pinealoma

51
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)

52
Choose correct answer
  • Premature theralche
  • Premature adrenarche
  • Both
  • Neither

D
1. Growth acceleration 2. Normal adolescent
sexual development 3. Onset of gonadal function
usually in 2-3 years
C
B
53
  • You suspect a 16 year female has Turner syndrome.
    The most definitive diagnostic test is
  • Buccal smear
  • Chromosome analysis
  • Measuring her FSH and LH
  • Determining her bone age
  • Determining her testosterone level

54
  • 5 year old girl with pubic hair and rapid growth.
    She has no breast development
  • Possible sources of androgens
  • Liver
  • Adrenal
  • Ovary
  • Pituitary
  • Pineal

F
T
T
F
F
55
  • 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
  • Central precocious puberty
  • Congenital adrenal hyperplasia
  • McCune Albright syndrome
  • Benign premature adrenarche
  • Adrenal tumor

F
T
F
F
T
56
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
57
Why
  • Reactivation of hypothalamic pituitary gonadal
    axis

58
Gonadatropin dependent (central) precocious
puberty
  • Clock turns on early
  • Idiopathic
  • gt 95 girls 50 boys
  • Hypothalamic hamartoma (Gelastic seizures)
  • NF (optic glioma)
  • Head trauma
  • Neurosurgery
  • Anoxic injury
  • Hydrocephalus

59
Treatment
  • Why
  • Psychosocial
  • Height
  • What
  • GnRH agonist

60
Gonadotropin independent precocious puberty
61
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 PMSH
nil of note Mother had menarche at 12 yrFather
had normal timing of his puberty Medications
none
62
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
63
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 GenitaliaPubic hair - Tanner 2Scrotal
thinningTestes 5 ml bilaterally (pubertal gt3
ml) Rest unremarkable
64
7 year male with signs of puberty
65
Precocious puberty in the male
Gonadotropins
Prepubertal Pubertal Gonadotropin
independent Central precocious precocious
puberty puberty
LH
G
Leydig cell
66
Final diagnosis Gonadotropin independent
precocious puberty secondary to an ßHCG
secreting hepatoblastoma
67
  • 5 year old with breast development
  • and growth acceleration - Estradiol 62 pg/ml
    (lt10)
  • FSH lt0.1 mIU/mL
  • LH lt0.1 mIU/mL

Gonadotropin independent precocious puberty

68
  • McCune Albright syndrome
  • Café au lait macules
  • Gonadotropin independentprecocious puberty
  • Polyostotic fibrous dysplasia

69
Growth disorders anddelayed puberty
70
Delayed puberty
71
  • 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 bone age of 12 ½ years
  • Growth hormone deficiency
  • Adult height in the normal range
  • Acceleration of growth and sexual maturation over
    the next 2 years.
  • History of normal length and weight at birth

72
  • A 15 yr male has delayed puberty. He also has
    headaches, diplopia and increased urination. His
    height is lt 3rd percentille
  • Which of the following is the most likely
    diagnosis?
  • Diabetes mellitus
  • Pinealoma
  • Cerebellar tumor
  • Craniopharyngioma
  • Pituitary adenoma

73
  • 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
  • Treatment with an anti-estrogen (e.g. Tamoxifen)
  • Treatment with an aromatase inhibitor
  • Treatment with a dopamine agonist (bromocryptine)
  • Surgery
  • Reassurance

74
Diabetes
75
  • 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
  • insulin drip 0.1 units/kg/hour
  • ½ Normal Saline with 40 meq K at 2x maintenance
  • Bicarbonate 1 meq/kg slowly over 1 hour
  • 20 ml/kg normal saline bolus IV

76
  • An obese 16 year male is found to have glycosuria
    at routine urinalysis done as part of regular
    health care maintenance. You order a glucose
    tolerance test.
  • GTT
  • Time Glucose (mg/dL)
  • -0- 109
  • -120- 188
  • Which of the following statements are correct?
  • This patient has
  • Type 2 diabetes
  • Impaired glucose tolerance but normal fasting
    glucose
  • Normal glucose tolerance
  • Both impaired fasting glucose and impaired
    glucose tolerance

77
Definition of diabetes
lt 100
lt 140
Normal
Fasting
2 hr post load
78
  • An obese 14 year male is found to have
    glycosuria. Fasting GTT is ordered and the
    results are as follows
  • Time Glucose (mg/dL)
  • -0- 109
  • -120- 188
  • This patient is at risk for the development of
    all the following EXCEPT
  • Type 2 diabetes
  • Dyslipidemia
  • Hypertension
  • Slipped capital femoral epiphysis
  • Hashimoto thyroiditis

79
  • A 13 year male has new onset type 1 diabetes
    mellitus. Therapy for this child may include
    all of the following EXCEPT
  • Glargine (Lantus) and Lipro insulin (Humalog)
  • Detemir (Levemir) and Aspart insulin (Novolog)
  • Metformin
  • Analog insulin administered via an insulin pump

80
Miscellaneous
81
Hypoglycemia
  • Decreased substrate
  • Poor intake
  • Defective glycogenolysis or gluconeogenesis
  • Increase utilization
  • Sepsis
  • Hyperinsulinism
  • Absent counter regulatory hormones
  • GH
  • Cortisol

82
Choose correct answer
  • Hypoglycemia from hyperinsulinemia
  • Hypoglycemia from metabolic fuel depletion
  • Both
  • Neither

1. Usually preceded by ketosis 2. Brisk respones
to glucagon 3. Usually responds to oral glucose
B
A
B
83
  • Side effects of corticosteroids include all of
    the following except
  • hypertension
  • hypoglycemia
  • decrease bone mineralization
  • myopathy
  • cataracts

84
  • What is the most likely diagnosis in this newborn
    infant?
  • Mother has SLE
  • Anasarca from cardiac failure
  • Systemic allergic reaction
  • Congenital nephrotic syndrome
  • Turner syndrome

85
5 year old male with short stature
  • Turner syndrome
  • VATER syndrome
  • Albrights hereditary osteodystrophy
  • Noonan syndrome
  • Goldenhar syndrome

86
  • A moderately obese adolescent female has
    irregular periods, hirsutism and acne
  • Of the following, which is the most likely
    diagnosis?
  • Cushing syndrome
  • Polycystic ovarian syndrome
  • Virilizing adrenal tumor
  • Non-classical CAH
  • Hyperprolactinemia

87
Choose correct answer
  • Diabetes mellitus
  • Diabetes insipidus
  • Both
  • Neither

2 Na BUN/2.8 Gluc/18
C
1. Osmolality of serum gt 300 Osm/L 2. Osmolality
of urine gt 500 mOsm/L 3. Hypernatremia
A
B
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