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Peds Boards 2021 > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is the most likely diagnosis for patient with delayed puberty, cryptorchidism, renal agenesis, abnormal smell, and syndactyly?

A

Congenital GnRH deficiency

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2
Q

What progestin is recommended to use for OCP treatment of PCOS (polycystic ovarian syndrome)?

A

Drospirenone

low androgenic effect so decreased effect of hirsuitism

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3
Q

What is the most likely diagnosis for newborn with micropenis, palpated testicles, hypoglycemia and direct hyperbilirubinemia?

A

Growth hormone deficiency

will have slow growth velocity after 18-24 months of age

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4
Q

What genetic syndrome is associated with overgrowth as older child and neonatal resistant hypoglycemia?

A

Beckwith Weidemann Syndrome

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5
Q

What is the most likely diagnosis for patient with anosmia (altered smell), cleft palate, renal agenesis, sparse body hair, high pitched voice, decreased muscle mass, red green color blindness, mirror movements and long arms and legs?

A

Kallman syndrome

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6
Q

What diagnostic test is needed to confirm Grave’s disease (autoimmune hyperthyroidism)?

A

Thyroid stimulating immunoglobulin

stimulates TSH receptor on thyroid to increase activity

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7
Q

What is the most likely diagnosis for patient with bronzed skin appearance, weight loss, vomiting, fatigue, orthostatic hypotension, hypoglycemia and hyperkalemia (peaked T wave and increased PR interval on EKG)?

A

Addison’s Disease (adrenal insufficiency

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8
Q

What are the 3 conditions that make up Autoimmune Polyglandular syndrome type 2?

A

Diabetes type 1
Autoimmune thyroiditis
Addison’s disease

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9
Q

What is the genetic mutation that results in Kallmann Syndrome?

A

ANOS1 gene mutation on Xp22.3

results in migration gene defect

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10
Q

What type of rickets does not result in abnormal parathyroid hormone (PTH)?

A

Familial hypophosphatemic Rickets

due to phosphate loss at kidney which does not trigger PTH as Ca remains normal

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11
Q

What is the most likely etiology of infant with neonatal hypoglycemia, direct hyperbilirubinemia, micropenis, nystagmus, poor feeding, poor weight gain, agenesis of septum pellucidum and developmental delay?

A

Septo-optic Dysplasia

due to midline abnormality in brain

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12
Q

What are the hormonal abnormalities associated with Polycystic Ovarian Syndrome? (3)

A
  1. elevated free testosterone
  2. elevated LH
  3. decreased FSH
    (LH: FSH ratio of 2.5 to 1)
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13
Q

What is the gene associated with male sex determination and if altered can result in phenotypic female although karyotype is 47, XY?

A

SRY gene

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14
Q

What is the electrolyte abnormality associated with Addison’s disease (primary adrenal insufficiency)?

A

hyperkalemia

peaked T wave on EKG

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15
Q

What is the most likely diagnosis for patient with pigmente patches with irregular border (looks like coast of Maine) with signs of precocious puberty (vaginal bleeding, breast buds) and fibrous dysplasia of bones (pelvis and femur)?

A

McCune Albright syndrome

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16
Q

What is the peak incidence for new onset Type 1 diabetes?

A

between 5-7 years old and early puberty (10-14 years old)

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17
Q

What is the most likely diagnosis for patient who was LGA and macrocephalic at birth, weight and height are greater than 90th percentile, have large hands and feet, hypotoinic, poor coordination, and growth velocity was elevated until 5 years old at which time normalized?

A

Soto Syndrome (Cerebral gigantism)

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18
Q

What is the genetic mutation associated with Soto syndrome (cerebral gigantism)?

A

NSD1

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19
Q

What is the treatment for hypophosphatemic rickets?

A

Phosphate and calcitriol

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20
Q

What is the most likely diagnosis for patient with short stature, short fingers and toes, family history of similar appearance, weight greater than height, elevated PTH, low calcium and low phos?

A

pseudohypoparathyroidism

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21
Q

What are two signs of congenital hypothyroidism?

A
  1. prolonged jaundice

2. widely open fontanelles

22
Q

What is the most likely diagnosis for an adolescent female with primary amenorrhea, galactorrhea (breast discharge), delayed growth (no growth spurt)?

A

Pituitary tumor

23
Q

What is the most likely diagnosis for patient with secondary amenorrhea, elevated BMI, hirsuitism, hyperinsulinemia, elevated LH:FSH ratio, hyperandrogenism?

A

Polycystic Ovarian Syndrome

24
Q

What is the etiology for young male presenting with accelerated growth velocity, elevated testosterone, undetectable gonadotropin, pubic hair and family history of short statue and early puberty in females?

A

Activation mutation of LH receptor

25
Q

What is the most likely diagnosis for infant with failed newborn screen, normal TSH, low T4, and normal free T4?

A

Thyroxine binding globulin deficiency

26
Q

What is the most likely diagnosis for patient presenting with normal female genitalia, testicular tissue in abdomen or groin, normal testosterone level for male?

A

Androgen insensitivity syndrome

27
Q

When does menarche start?

A

During Sexual maturity rating 4

1-2 years after breast tissue development

28
Q

What is the next best step in management of patient presenting in DKA who is treated with fluid resuscitation and develops altered mental status?

A

Mannitol or hypertonic saline

treat cerebral edema concern clinically as may not show on imaging immediately

29
Q

What condition has increased risk of sudden death if growth hormone therapy is use?

A

Prader Willi syndrome

especially if have sleep apnea

30
Q

What is the likely diagnosis for patient presenting with polyuria, polydipsia, hypernatremia, elevated serum Osm, decreased urine Osm and may be on lithium?

A

Nephrogenic Diabetes Insipudus

resistance to ADH produced by brain

31
Q

What is the pathophysiology behind central precocious puberty?

A

early activation of pulsatile GnRH

32
Q

What screening should be done for patients with Type 1 Diabetes once they have had diagnosis for 5 or more years? (2)

A

microalbuinemia (check for renal disease)

ophthalmology

33
Q

What is the work-up for a patient suspected of premature thelarche (breast budding with no other signs of puberty)? (3)

A
  1. Bone age
  2. estradiol
  3. LH/FSH
    (to rule out other pathology)
34
Q

How do you distinguish between central and renal diabetes insipidus (DI)?

A

Administration of DDAVP
central- improves with DDAVP
renal- no change/ resistant to DDAVP

35
Q

How do you distinguish between diabetes insipidus and polydipsia (drinking too much fluid)?

A

DI: high serum sodium and high osm
polydipsia: low serum sodium and low Osm

36
Q

What is the most common risk factor for follicular ovarian cysts (unilocular, echogenic thin walled adnexal mass)?

A

Cigarette smoke

37
Q

What are the 4 diagnostic tests available to confirm type 1 diabetes?

A
  1. fasting glucose greater than 126
  2. symptoms plus random glucose of 200 or more
  3. random glucose of 200 after 2 hr GTT
  4. HgA1C of 6.5 or higher
38
Q

What is the most likely diagnosis for patient with retinitis pigmentosa, deveopmental delays, genital hypoplasia, polydactyl, and hypogonadism?

A

Laurence-Moon-Biedl/ Bardet-Biedl syndrome

39
Q

What cancer has an increased risk of occurrence in patients with Beckwith Weidemann Syndrome?

A

Wilm tumor

40
Q

What is the best initial diagnostic test to assess for Cushing syndrome?

A

24 hour urinary free cortisol level

41
Q

What is the most likely diagnosis for patient presenting with rapid weight gain in setting of decreased linear growth velocity, fatigue, exercise intolerance, muscle weakness, and hirsuitism?

A

Cushing syndrome (elevated cortisol)

42
Q

What is the treatment for adrenal crisis?

A

Hydrocortisone 50-100 mg/meter cubed and IV fluids

43
Q

What is the most the cause of late onset (after 72 hours of life) hypocalcemia seizure?

A

Hypoparathyroidism

44
Q

What hormonal abnormality is associated with SCFE (slipped capital femoral epiphysis)?

A

Hypothyroidism (elevated TSH, low free t4)

45
Q

What is the most likely diagnosis for patient presenting with normal TSH and low free T4?

A

central hypothyroidism

46
Q

What is the most likely diagnosis for male patient who is undervirilized, has normal testosterone, and elevated testosterone to DHT (dihydrotestosterone) ratio?

A

5 alpha reductase deficiency

will have virilization at puberty

47
Q

What are the critical labs needed to evaluate hypoglycemic episode? (5)

A
  1. cortisol
  2. glucose
  3. Growth hormone
  4. insulin
  5. ketones
48
Q

What is the most likely diagnosis for patient with delayed eruption of teeth and midline defects (cleft palate, etc)?

A

Growth Hormone deficiency

hypopituitarism

49
Q

What is the most likely diagnosis for patient presenting with high blood pressure, enlarging penile size and development of pubic hair without testicular enlargement, tall stature and negative newborn screen?

A

11 beta hydroxylase deficiency type of CAH

not detected on newborn screen

50
Q

What is the LH and FSH levels expected in amenorrheic Turner Syndrome patient?

A

elevated FSH and elevated LH

51
Q

What size is determined to be a micropenis in a newborn and should warrant endocrine work-up?

A

less than 2 cm in length

Peds Boards 2021 (22 decks)

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