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Pediatrics > Endocrine Disorders > Flashcards

Endocrine Disorders Flashcards

0
Q

Evaluation of Growth

A
  • Pediatric growth charts .
  • Bone age.
  • Bone age related to chronological age.
  • Growth velocity.
  • Evaluation of tall and short stature.
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1
Q

Pituitary gland secrete the following hormones :

A

Anterior part :
TSH-ACTH-FSH-LH-GH-Prolactin—Endorphin .
Posterior part :
Oxytocin - ADH

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2
Q

CA =BA

A 
Normal: 
1-Ideal 
2-Familial short stature. 
Abnormal:
1-Genetic , chromosomal
2-Endocrine .
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3
Q

CA > BA

A 
Normal : 
Constitutional delay . 
Abnormal : 
1-Chronic systemic disease. 
2-Endocrine .
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4
Q

CA < BA

A 
Normal : Obesity 
Abnormal : 
1-Precocious puberty.
2-CAH
3-Hyperthyroidism .
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5
Q

What is the most common cause of acquired Hypopituitarisn ?

A

Craniopharyngioma

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6
Q

Signs of expanding Tumor in the head .

A 
1-Headache .
2-Vomiting . 
3-Visual changes . 
4-Papilledema . 
5-Cranial nerve palsies .
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7
Q

Hypopituitarisn : Lab evaluation .

A

GH screen :
or Low serum insulin-like growth factor ( IGF-1) and binding protein (IGF-BP3).
Upper normal excludes GH deficiency .

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8
Q

Hypopituitarisn :

Definitive Lab ?

A

GH stimulation test .

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9
Q

Precocious Puberty

A

1-Girls: sexual development < 8 y

2-Boys: < 9 Years .

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10
Q

Precocious Puberty

Evaluation ?

A

Screen: increase in LH .
Definitive: GnRH stimulation test -
( give IV GnRH~ brisk LH response)
If positive ~ MRI

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11
Q

Congenital hypothyroidism :

Signs and Sympyoms

A 
1-Normal weight and length 
2-Prolonged jundice 
3-Large tongue , mouth open , 
4-Umbilical hernia ,
5-Constipation .  
6-Hypotonia . 
7-Wide anterior and posterior fontanels.
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12
Q

Wide fontanels :

A

Usually posterior fontanel closes 3-4 months after that u think :
1-Hydrocephalus
2-Congenital hypothyroidism .

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13
Q

Congenital Hypothyroidism

Evaluation

A

-Newborn screen : T4; if its low _ check TSH (high)

Managemt:
Thyroxine

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14
Q

What is the most common cause Acquired Hypothyroidism in cheldren ?

A

Hashimoto’s thyroiditis (autoimmune)

Down, Turner, Klinefelter, irradiation, Iodine.

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15
Q

Acquired Hypothyroidism

Signs and Symptoms:

A

1-Deceleration of growth .
2-Myxedema , delayed Osseous maturation , delayed puberty , visual problems .
DX: T4, Free T4, TSH + Antithyroglobulin Ab

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16
Q

Graves Disease :

Defenition ;

A
  • Diffuse hyperplasia of the thyroid
  • Autoimmune etiology
  • Thyroid-stimulating immunoglobulins binde to TSH receptors on thyroid follicular cells
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17
Q

Graves’ disease

Lab and treatment :

A 
Lab :
1-Increased T4, T3, FT4
2-decreased TSH
Treatment :
1-Propylthiouracil
2-Beta blocker
3-Surgery
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18
Q

Hypoparathyroidism

Clinical presentation

A

1-Muscle pain, cramps, numbness, tingling.
2-Laryngeal and carpopedal spasm
3-Seizures( hypocalcemia)

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19
Q

Hypoparathyroidism

Labs

A 
1-Decreased Ca 
2-Increased P
3-Normal / low alkaline phosphatase
4-Low 1,25(oh)2D3
5-Normal Mg
6-Low PTH
7-EKG- prolonged QT
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20
Q

Congenital Adrenal Hyperplasia

Pathology

A

1-90% 21-hydroxylase deficiency
2-AR enzyme deficiency
3-Deficiency of ( cortisol, aldosterone )~salt-losing .
4-Decreasef cortisol~ increased ACTH ~ adrenal hyperplasia .

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21
Q

Synthesis of vitamin D

A 
7-dehydrocholesterol(skin)
                   |-sun 
Cholecalciferol (D3) 
                   |-in leaver 
 25-hydroxyvitamin D
                   |-in kidney
1,25-dihydroxyvitamin D (active)
                   |
 Biological actions
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22
Q

Adrenal glands Hormones :

A

-Cortex :
Cortisol, aldosterone, androgens.
-Medulla :
Adrenaline

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23
Q

21-Hydroxylase Deficinecy

Signs and Sympyoms :

A

1-First two weeks of age ( anorexia, vomiting , dehydration)
2-Hypotension ,
3-hyopnatremia , Hypoglycemia , hyperkalemia.
4-Female masculinized ( internal organ normal )
5-Boys is normal .
6-Postnatal virilization .

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24
Q

21-Hydroxylase Deficiency

Lab Evaluatoin :

A

1-(+) 17-OH progesterone
2-(-) Serum Na, glu ;(+)K, acidosis.
3-(-) Cortisol, (+) androgens in affected males.
4-(+) renin and (-) aldosterone .
5-Definitive- measure 17-OHP befor/after ACTH.

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25
Q

21-Hydroxylase Deficiency

Treatment :

A

1-Hydrocortisone QD
2-Fludrocirtisone if salt-losing
3-Surgery

26
Q

Cushing Syndrome

Signs and Symptoms :

A
  • Moon facies .
  • Truncal obesity
  • Striae
  • Delayed puberty and amenorrhea
  • Hyperglycemia, Hypertension
  • Masculinization
  • Osteoporosis , pathologic fracture .
27
Q

Cushing Syndrome

Diagnosis

A

1-dexamethasone suppression test

2-Determine - CT, MRI

28
Q

Lactose :

Fructose :

A

Glucose + Galactose (Lactose)

Glucose + fructose ( sucrose)

29
Q

Gaucher disease :

Which enzyme deficits ?

A

B-glucocerebrosidase

~accumulation of glucocerebroside ( from cells membrane) in reticuloendothelial system.

30
Q

Gaucher disease

Lab

A
  • Anemia
  • Leukopenia
  • Thrombocytopenia
  • hepatospleenomegaly
  • X-ray ( Erlenmeyer flask)of long bone.
31
Q

Nieman-Pick type A/B

A

Sphingomyelinase deficiency (lipid in CNS)

32
Q

Neonatal thyrotoxicosis

Signs and symptoms

A
  • Tachycardia , tachypnea
  • Irritability , hyperactivity
  • Low birth way
  • Microcephaly
  • heart failure
33
Q

Systemic Lupud erythematosus

A

Neonatal Third-degree heart block

34
Q

Symptoms of Ovarian Tumor and Exogenous estrogen :

A
  • Suppress the function of pituitary
  • Premature telarche
  • Vaginal bleeding
35
Q

The etiology of true precocious puberty ?

A
  • Girls : idiopathic

- Boy’s : lesion in CNS ( hamartomas)

36
Q

When can we say there is delayed puberty for males ?

A

When physical changes are not apparent by 14 years of age .

37
Q

Pubertal development signs for males ?

A

1-Penile length > 2.5cm

2-Testicular volume > 3cm

38
Q

Pheochromocytoma

Symptoms:

A
  • Headech
  • Racing heart
  • Hypertension
  • Abdominal pain
  • Dizziness
39
Q

The cause of striae and central obese ?

A

1-Exogenous adrenocorticotropic hormones
2-Hypothalamic-pituitary axis ~ bilateral adrenal hyperplasia
3-Execess ACTH from pituitary adenoma.

40
Q

Galactosemia :

Enzyme deficiency ?

A

Galactose-1-phosphate uridyl transferase.

41
Q

Cystic fibrosis

Diangnostic criteria :

A 
Any of those : 
1-Typical clinical feature 
2-History of sibling with CF
3-Positive newborn screen . 
Plus Any of those : 
1-Two increased sweat chloride on 2 separate days. 
2-Identification of 2 CF mutations
3-Abnormal nasal potential difference.
42
Q

Hurler Syndrome

A
  • Mucopolysaccharidosis type 1
  • Deficiency of a-L-iduronidase
  • Cause deposition of ( dermatan sulfate , hepan sulfate )
43
Q

What is the most common intraocular Tumor in children ?

A

Retinoblastoma

-usually associated with osteosarcoma ( bone cancer )

44
Q

Pseudohypoparathyroidism

Albright hereditary osteodystrophy

A 
1-Low Ca
2-High Phosphorus
3-High PTH
4-Short stature 
5-MR, 
6-Brachydactyly( 4-5 digits)
7-Obesity with round face.
8-Subcapsular cataract.
9-Cutaneous , subcutaneous and perivascular calcification ( basal ganglia)
45
Q

Complication of immobilization

A

1-Hypercalciuria
2-Hypercalcemia
3-Nephropathy (nephrocalcinosis)
4-Anorexia , vomiting , depression

46
Q

The measure for immobilizated patients ?

A

1-Calcium to creatinine ratio(>0.2)

2-Serum ionized calcium

47
Q

Alkaptonuria:

Feature ?

A

1-Homogentisic acid oxidase deficiency

2-Arthritis + dark urine ( exposure to air)

48
Q

Wilson disease

Feature ?

A 
1-AR 
2-Deposition of copper in tissues
3-Low serum Copper 
4-Liver disease 
5-Renal tubular dysfunction( Fanconi) 
6-Eye ( Kayser-Fleischer ring )
7-Neurogic and behavioral disturbance
49
Q

Dubin-Johnson Syndrome

A

1-AR
2-Unable to excrete conjugated bilirubin.
3-Present in adolescent

50
Q

Exogenous hyperinsulinemia:

A

1-Hypoglycemia
2-Hyperinsulinemia
3-Low C-peptide

51
Q

Rickets:

Lab ?

A 
1-High PTH 
2-Normal Ca 
3-Low phosphate in blood 
4-High serum Alkaline phosphatase 
5-Hypocalciuria 
6-Hyperphosphaturia
52
Q

Hypocalcemia of newborn :

A 
Early(first 72 hours)
-Idiopathic 
-Maternal illness ( diabetes, toxaemia, hyperparathyroidism) 
-Neonatal distress
Late( after 72 hours ) 
-Hypoparathyroidism 
-high phosphate intake
53
Q

Osteogenesis imperfecta :

Lab?

A

1-Normal Ca

2-Normal Phosphate .

54
Q

Hypoparathyroidism ;

Labs :

A

1-Low Ca

2-High Phosphate .

55
Q

Medullary thyroid carcinoma

A
  • Tumor secrets Calcitonin
  • Normal Ca
  • Normal Phosphate .
56
Q

Laurence-moon-Biedl Syndrome

A
  • AR
  • Obesity
  • Mental retardation
  • Hypoganadism
  • Polydactyly
  • Retinitis pigmentosa
  • Night blindness
57
Q

Polycystic ovary disease

Feature ?

A

1-presentation after puberty
2-Obesity
3-Hirsutism
4-Secondary amenorrhea

58
Q

Central diabetes insipidus :

Feature ?

A

1-Excretion of hypotonic urine
2-Polyuria, polydipsia,
3-Hypernatremic dehydration

59
Q

Hyperaldosteronism

Features ?

A

1-Hypernatremia
2-Hypokalemia
3-Hyperchloremia
4-Alkalosis .

60
Q

Addison’s disease : ( crisis )

A
  • Hyponatremia
  • Hyperkalemia
  • Shock
  • Autoimmune, TB
  • Hyperpigmentation on gums skin
61
Q

Holt-Oram Syndrome

Feature ?

A
  • Hypoplastic radii
  • Thumb abnormalities
  • Cardiac anomalies
  • Missing pectoralis muscle
62
Q

Infants of diabetic mother

Feature ?

A
  • Macrosomia
  • Cardiac septal hypertrophy
  • Congenital heart disease
  • Caudal regression
  • Vertebral defects
  • Single umbical artery
63
Q

Appropriate genetic mechanism for the following disease :

A 
-Mitochondrial inheritance :
Disease of brain and muscle 
-Genomic imprinting : 
Prader-Willi
-Triplet repeat expansion disorder :
Fragile X, Huntington, Myotonic dystrophy .
-Mosaicism: 
Hypomelanosis, Down Syn

Pediatrics (6 decks)

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