Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pediatrics Board ⭐️ > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is the first sign of puberty in a boy?

A

Testicular enlargement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the first sign of puberty in a girl?

A

Breast budding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

The height acceleration peaks in girls is at which sexual maturation rating (SMR) stage?

A

Between stage 2 and 3 SMR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

The height acceleration peaks in boys is at which SMR stage?

A

Between stage 4 and 5 SMR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How many years after breast development does menarche start?

A

2.5years (approximately)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

A 5-year-old female, pubic hair, adult odor, no breast development, bone age is equal to chronological age, slightly increased dehydroepiandrosterone (DHEA) level, normal growth pattern for age

A

Premature adrenarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

A 2-year-old female with bilateral breast buds, unchanged for 1year, no growth acceleration

A

Benign premature thelarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

A 4-year-old female with new-onset bilateral breast enlargement, advanced bone age, and elevated luteinizing hormone (LH) and folliclestimulating hormone (FSH)

A

Central precocious puberty is very likely

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

A 4-year-old boy presents with an adult-size phallus, pubic and axillary hair, acne, well-defined muscle tone, prepubertal size testicles

A

Peripheral precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

A 4-year-old boy presents with an adult-size phallus, pubic and axillary hair, acne, well-defined muscle tone, pubertal size testicles, advanced bone age

A

Central precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

A 4-year old boy with new-onset adult body odor, recent growth acceleration, pubic and axillary hair, thinning of the scrotum, enlargement of both testicles. Elevated LH and FSH.What is the best study to establish the diagnosis?

A

Brain MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

A 5-year-old girl with pubic hair, mild hyperpigmentation of skin folds, slightly enlarged clitoris

A

Simple virilizing CAH-21 OH deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Second newborn screen positive for high 17-hydroxyprogesterone. What is the next best step?

A

Repeat 17-hydroxyprogesterone test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Newborn with proximal hypospadias (e.g., penoscrotal) and cryptorchidism

A

Ultrasonography for internal genitalia, karyotype, and serum electrolytes to screen for congenital adrenal hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the best treatment of congenital adrenal hyperplasia?

A

Hydrocortisone and fludrocortisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the treatment for a patient with congenital adrenal hyperplasia who presents with vomiting and low blood pressure?

A

IV hydrocortisone and IV fluid hydration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

A 2-week-old male with failure to thrive, persistent vomiting, dehydration, acidosis

A

CAH 21-OH deficiency (pyloric stenosis is associated with metabolic alkalosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Ambiguous genitalia, nephropathy, Wilms tumor, renal failure by 3years of age

A

Denys–Drash syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Female phenotype at birth with undifferentiated streak gonads, presence of vagina/fallopian tubes, at puberty no breast development/menstruation, development of gonadoblastoma is the highest risk

A

Swyer syndrome (XY pure gonadal dysgenesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Newborn with a small penis, bifid scrotum, urogenital sinus, blind vaginal pouch, testes are in the inguinal canal, raised as a female, virilization occurs at the time of puberty, enlargement of penis and scrotum, sperm formation, and normal adult height

A

5-alpha reductase deficiency (autosomal recessive)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Infant phenotypically female at birth, raised as female, vagina ends in a blind pouch, no uterus, no fallopian tubes, intra-abdominal testes, normal breast development, no menses, normal male adult height, testosterone level is normal

A

Androgen insensitivity syndrome; 46, XY (X-linked recessive disorder)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

XY normal male phenotype, inguinal hernia, undescended testis, Müllerian structures found incidentally (uterus and fallopian tubes)

A

Persistent Müllerian duct syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

A 4-year-old with precocious puberty, large caféau-lait spots, skeletal fibrous dysplasia, and vaginal bleeding are associated with

A

McCune–Albright syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

A slow growth rate in the first 2years of life (

A

Constitutional growth delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Short child, growth velocity is 5cm/year. Bone age is consistent with chronological age, father and mother are short

A

Genetic/familial short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

A 4-year-old, height

A

Growth hormone deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Common hormone deficiency associated with single maxillary central incisors, septo-optic dysplasia, cleft lip, cleft palate, and microphallus

A

Growth hormone deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Normal length and weight by birth initially that drops by 1-year, conjugated hyperbilirubinemia, hypoglycemia, broad facies, and microphallus

A

Congenital growth hormone deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Decreased levels of IGF-1 and IGF-BP3 are seen in which hormone deficiency?

A

Growth hormone deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Normal growth hormone levels, height

A

Idiopathic short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

How do you calculate the mid-parental height for a male?

A

[Mother height + Father height +13cm]/2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

How do you calculate the mid-parental height for a female?

A

[Mother height + Father height—13cm]/2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Pseudotumor cerebri, slipped capital femoral epiphysis, and gynecomastia are the possible side effects of which hormonal therapy

A

Growth hormone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

A 7-year-old boy with a progressive headache, vomiting without nausea, bitemporal hemianopsia, short stature, weight gain, and fatigue. What is the next best step?

A

Brain MRI (craniopharyngioma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

A 7-year-old boy, at birth, was large for gestational age, macrocephaly, a rapid growth rate in the first 3years of life; now presenting with cognitive deficiency, autistic behavior, attention deficit hyperactivity disorder (ADHD), large and protruded head, large hands and feet, hypotonia, clumsiness, advanced bone age

A

Cerebral gigantism (Soto syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Boy with hypoplasia of optic nerves, nystagmus, an absence of septum pellucidum, schizencephaly, seizures, hypopituitarism, presented with hypoglycemia, jaundice, and micropenis at birth

A

Septo-optic dysplasia (De Morsier syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

A 17-year-old female, amenorrhea, headache, galactorrhea, visual field defect; the pregnancy test is negative, and serum prolactin is >200mg/ dL.MRI showed a pituitary mass of 15mm with encroachment on the optic chiasm

A

Prolactinoma (macroadenoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

A 17-year-old boy, no signs of puberty, penis, and testicles are prepubertal, and anosmia

A

Kallmann syndrome (hypogonadotropic hypogonadism)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

A 17-year-old male presents for a well visit. He has academic difficulty, gynecomastia, small firm testicles (

A

Klinefelter syndrome 47, XXY karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

A 16-year-old female, short stature (

A

Turner syndrome; 45, X karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

The most common cardiac defect associated with Turner syndrome

A

Bicuspid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Newborn girl had cystic hygroma on fetal ultrasound, lymphedema of the feet, webbed neck, heart murmur, and horseshoe kidney

A

Turner syndrome; 45, X karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

A 5-year-old male, lymphedema of the feet at birth, short stature, webbed neck, strabismus, hearing loss, joint laxity, pulmonary stenosis, intellectual disability, normal karyotype

A

Noonan syndrome (mutations in the RASMAPK pathway)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Newborn screen of a 6-day-old boy showed abnormal thyroid-stimulating hormone (TSH) level of 230mIU/L (elevated TSH >40mIU/L). Physical examination is unremarkable. What is the next best step?

A

Obtain confirmatory TSH and free thyroxine now but initiate the treatment immediately, before the results of the confirmatory tests are available

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is the optimal care of neonates with congenital hypothyroidism?

A

Early diagnosis before age 10–13days and normalization of thyroid hormone blood levels by age 3weeks

46
Q

The most common cause of congenital hypothyroidism

A

Thyroid dysgenesis

47
Q

What is the treatment of congenital hypothyroidism and how should the treatment be given?

A

Levothyroxine tablet (initial dose is 10–15mcg/ kg/day) should be crushed and mixed with breast milk or formula (cannot be mixed with soy formula)

48
Q

Low free T4, elevated TSH

A

Primary hypothyroidism

49
Q

Low free T4, normal or low TSH

A

Central hypothyroidism

50
Q

High free T4 and T3, low TSH

A

Hyperthyroidism (most common)

51
Q

Normal or low free T4, high T3, low TSH

A

Hyperthyroidism (less common)

52
Q

Normal T4, low T3, normal/low TSH, the patient has pneumonia

A

Euthyroid sick syndrome

53
Q

Low total T4, normal free T4, normal TSH

A

Thyroxine-binding globulin deficiency (TBG), hypoproteinemia, e.g., malnutrition and nephrotic syndrome

54
Q

A 11-year-old female with no growth for 2years, tired, constipated and “yellowish” skin

A

Hypothyroidism (likely Hashimoto)

55
Q

Adolescent with thyroid enlargement, no symptoms, TSH and free T4 are within the reference range, positive antithyroid peroxidase (TPO)

A

Hashimoto thyroiditis

56
Q

A 14-year-old girl, school troubles, getting in fights, appears to be on drugs because of red bulgy eyes and irritability

A

Graves disease (hyperthyroidism)

57
Q

What is the best test to confirm the diagnosis of Graves disease?

A

Thyrotropin receptor-stimulating immunoglobulin (TSI)

58
Q

A painful thyroid gland that started after viral infection associated with elevated ESR with an eventual return to normal thyroid function

A

De Quervain thyroiditis—initial hyperthyroid phase, then hypothyroid phase with eventual recovery

59
Q

Newborn child with tachycardia, irritability, hypertension, mother with a history of Graves disease?

A

Neonatal thyrotoxicosis

60
Q

The most common symptom of hyperthyroidism or Graves disease

A

Weakness/fatigue

61
Q

The most common side effect of antithyroid drugs (e.g., methimazole)

A

Transient urticarial rash

62
Q

The best diagnostic test for solitary thyroid nodule

A

Fine needle aspiration biopsy; US-guided

63
Q

The most common thyroid cancer in pediatric patients

A

Well-differentiated thyroid (follicular/papillary) carcinoma

64
Q

Medullary thyroid cancer, hyperparathyroidism, pheochromocytoma

A

Multiple endocrine neoplasia (MEN)-2A

65
Q

Medullary thyroid cancer, pheochromocytoma, mucosal neuroma

A

MEN-2B

66
Q

Low to normal serum Ca, low serum phosphate, high alkaline phosphatase, low 25-(OH) vitamin D, high parathyroid hormone (PTH)

A

Vitamin D deficiency (rickets)

67
Q

Normal serum Ca, low serum phosphate, very high alkaline phosphatase, normal vitamin D, failure to thrive, hypotonia, delayed dentition

A

Hypophosphatemic rickets or X-linked hypophosphatemic rickets

68
Q

What is the mode of inheritance of hypophosphatemic rickets?

A

X-linked dominant

69
Q

High serum PTH, low serum Ca, high phosphate, short stature, stocky habitus, soft-tissue calcifications/ossifications, short fourth and fifth metacarpal bones

A

Albright hereditary osteodystrophy (pseudohypoparathyroidism type 1A)

70
Q

Short stature with stocky body habitus, soft-tissue calcification/ossifications, short fourth and fifth metacarpals with normal PTH, normal calcium, and normal phosphate

A

Pseudopseudohypoparathyroidism—due to paternal mutation

71
Q

Normal serum Ca, low serum phosphate, very high alkaline phosphatase, non-anion gap metabolic acidosis, developmental delay, cataracts, glaucoma

A

Oculocerebrorenal dystrophy (Lowe syndrome)

72
Q

A 7-year-old with obesity, hyperphagia, small hands and feet, small penis, cryptorchidism, and cognitive deficiency

A

Prader–Willi syndrome

73
Q

What is the chromosomal deletion of Prader–Willi syndrome?

A

Paternal chromosome 15q11-q13 deletion

74
Q

Obesity, retinitis pigmentosa, hypogonadism, intellectual disability

A

Bardet–Biedl syndrome or Laurence–MoonBiedl syndrome

75
Q

Adolescent female, obesity, acanthosis nigricans, HBA1c 6.9%, elevated testosterone and LH, hirsutism, no ovarian cysts noticed on ultrasonography

A

Polycystic ovary syndrome

76
Q

Failure to thrive, microcephaly, intellectual disability, ptosis, strabismus, syndactyly, pyloric stenosis, and low-plasma cholesterol

A

Smith–Lemli–Opitz syndrome (autosomal recessive)

77
Q

Polydipsia, hypernatremia, serum osmolarity >300mOSm/kg, urine osmolarity

A

Diabetes insipidus (DI)

78
Q

Patient with meningitis on IV fluids, hyponatremia, hypo-osmolality, elevated blood pressure, inappropriately concentrated urine, and high urine sodium level

A

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

79
Q

What is the best initial treatment for the patient with SIADH in the previous example?

A

Reduce IV fluid rate (fluid restriction)

80
Q

A patient underwent neurosurgery for a brain tumor, develops dehydration, hyponatremia, high urine output, hypovolemia, low blood pressure, high urine Na

A

Cerebral salt wasting

81
Q

Cerebral salt wasting is associated with which hormone is being elevated?

A

Atrial natriuretic peptide

82
Q

What is the best treatment for a patient with cerebral salt wasting dehydration?

A

Isotonic fluid hydration

83
Q

Patient with diabetes insipidus comes in for water deprivation test, after administration of DDAVP (desmopressin) the urine becomes concentrated

A

Central diabetes insipidus

84
Q

Patient with diabetes insipidus comes in for water deprivation test, after administration of DDAVP there is no effect on urine concentration

A

Nephrogenic diabetes insipidus

85
Q

Child with obesity, height 95th percentile for age

A

Cushing syndrome

86
Q

A 7-year-old boy with a history of severe asthma, presents with a 3-day history of worsening nausea, abdominal pain, and vomiting, he was on a high dose of inhaled steroids for 1year. Lately, the child is not compliant with medications. What is the most likely cause of his symptoms?

A

Adrenal insufficiency

87
Q

Child is presents with fatigue, nausea, weight loss, hypotension, volume depletion, and diffuse hyperpigmentation

A

Addison disease

88
Q

Child with type 1 diabetes mellitus, well controlled, suddenly develops hypotension and shock

A

Addison disease

89
Q

Best initial treatment for a patient with diabetic ketoacidosis within the first hour who presents with volume depletion, e.g., tachycardia, prolonged capillary refill time, and elevated blood urea nitrogen and creatinine

A

IV hydration: 10mL/kg of intravenous normal saline over 1h

90
Q

The most common cause of death in children who have type 1 diabetes

A

Diabetic ketoacidosis (DKA)

91
Q

What is the most common cause of recurrent DKA?

A

Insulin omission

92
Q

The most common cause of death related to DKA in children

A

Cerebral edema

93
Q

Adolescent female presents with recurrent vaginal candidiasis, BMI >97th percentile, hypertension, acanthosis nigricans. What is the next best step?

A

Fasting blood glucose level

94
Q

Adolescent female presents with polyuria, polydipsia, BMI >97th percentile, hypertension, acanthosis nigricans; her blood glucose level is 200mg/dL, A1C is 7%. What is the best treatment?

A

Metformin

95
Q

Adolescent female presents with polyuria, polydipsia, BMI >97th percentile, hypertension, acanthosis nigricans; her blood glucose level is 350mg/dL, A1C is 10%. What is the best initial treatment?

A

Insulin Blood glucose level ≥250mg/dL, A1C ≥8.5% insulin is the best initial treatment

96
Q

What is the A1C goal recommended by the American Diabetes Association for all pediatric age-groups with type 1 diabetes mellitus?

A

A1C target

97
Q

A 3-day-old infant, 10lbs at birth, jittery

A

Infant of a diabetic mother with hypocalcemia

98
Q

A 9-year-old male with sweating, jitteriness, and tachycardia with sudden onset of symptoms

A

Hypoglycemic episode Treatment: 15g of carbohydrate

99
Q

A 9-year-old male who has altered mental status glucose is noted to be 45mg/dl. Best treatment?

A

IM glucagon

100
Q

An infant with a history of tetralogy of Fallot presents with jitteriness and muscle twitching that has been worsening over the past few days. Blood glucose level is 85mg/dL, and the calcium level is 7mg/dL.What is the most likely cause?

A

Hypoparathyroidism

101
Q

A 5-day-old infant, small jaw, broad nose, tetralogy of Fallot, seizure

A

DiGeorge/velocardiofacial (VCF)

102
Q

A 3-month-old male with elfin facies, supravalvular aortic stenosis, now with serum Ca of 12.2

A

Williams syndrome

103
Q

A 4-day-old male with hypoglycemia, omphalocele, hemihypertrophy

A

Beckwith–Wiedemann syndrome

104
Q

Which childhood tumor is associated with Beckwith–Wiedemann syndrome?

A

Wilms tumor

105
Q

A 10lb plethoric neonate, requiring 15mg/kg/min dextrose infusion. The mother without gestational diabetes mellitus (DM)

A

Congenital hyperinsulinism

106
Q

A 5-year-old male previously healthy with throat pain and loss of appetite for 2days, suddenly starts feeling dizzy, jittery, becomes unconscious in ER; the glucose level is 37mg/dL, high level of serum and urine ketone, undetectable serum insulin, elevated serum cortisol, and growth hormone. What is the most likely cause?

A

Ketotic hypoglycemia (treatment is IV dextrose)

107
Q

An 18-month-old thin boy with mild fever overnight presents with loss of consciousness and hypoglycemia

A

Ketotic hypoglycemia (diagnosis of exclusion)

108
Q

A 5-day-old male with a small phallus, jaundice, now with glucose of 45mg/dl and ketones in urine after 4h of fasting

A

Hypopituitarism (adrenocorticotropic hormone (ACTH), growth hormone (GH) deficiency)

109
Q

A 6-year-old with nighttime headaches, height has fallen from 25th percentile to 5th percentile over 1year. Enuresis

A

Intracranial tumor in the region of the pituitary

110
Q

An 18-month-old male, length, and weight “stalled” for 9months. Stools remarkably odorous

A

Celiac/malabsorption

111
Q

What are the components of metabolic syndrome?

A

Impaired glucose Low HDL High triglycerides Elevated blood pressure Central obesity

Pediatrics Board ⭐️ (30 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions