Endocrine Disorders Flashcards

(64 cards)

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
21-Hydroxylase Deficiency | Lab Evaluatoin :
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.
25
21-Hydroxylase Deficiency | Treatment :
1-Hydrocortisone QD 2-Fludrocirtisone if salt-losing 3-Surgery
26
Cushing Syndrome | Signs and Symptoms :
- Moon facies . - Truncal obesity - Striae - Delayed puberty and amenorrhea - Hyperglycemia, Hypertension - Masculinization - Osteoporosis , pathologic fracture .
27
Cushing Syndrome | Diagnosis
1-dexamethasone suppression test | 2-Determine - CT, MRI
28
Lactose : | Fructose :
Glucose + Galactose (Lactose) | Glucose + fructose ( sucrose)
29
Gaucher disease : | Which enzyme deficits ?
B-glucocerebrosidase | ~accumulation of glucocerebroside ( from cells membrane) in reticuloendothelial system.
30
Gaucher disease | Lab
- Anemia - Leukopenia - Thrombocytopenia - hepatospleenomegaly - X-ray ( Erlenmeyer flask)of long bone.
31
Nieman-Pick type A/B
Sphingomyelinase deficiency (lipid in CNS)
32
Neonatal thyrotoxicosis | Signs and symptoms
- Tachycardia , tachypnea - Irritability , hyperactivity - Low birth way - Microcephaly - heart failure
33
Systemic Lupud erythematosus
Neonatal Third-degree heart block
34
Symptoms of Ovarian Tumor and Exogenous estrogen :
- Suppress the function of pituitary - Premature telarche - Vaginal bleeding
35
The etiology of true precocious puberty ?
- Girls : idiopathic | - Boy's : lesion in CNS ( hamartomas)
36
When can we say there is delayed puberty for males ?
When physical changes are not apparent by 14 years of age .
37
Pubertal development signs for males ?
1-Penile length > 2.5cm | 2-Testicular volume > 3cm
38
Pheochromocytoma | Symptoms:
- Headech - Racing heart - Hypertension - Abdominal pain - Dizziness
39
The cause of striae and central obese ?
1-Exogenous adrenocorticotropic hormones 2-Hypothalamic-pituitary axis ~ bilateral adrenal hyperplasia 3-Execess ACTH from pituitary adenoma.
40
Galactosemia : | Enzyme deficiency ?
Galactose-1-phosphate uridyl transferase.
41
Cystic fibrosis | Diangnostic criteria :
``` 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
Hurler Syndrome
- Mucopolysaccharidosis type 1 - Deficiency of a-L-iduronidase - Cause deposition of ( dermatan sulfate , hepan sulfate )
43
What is the most common intraocular Tumor in children ?
Retinoblastoma | -usually associated with osteosarcoma ( bone cancer )
44
Pseudohypoparathyroidism | Albright hereditary osteodystrophy
``` 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
Complication of immobilization
1-Hypercalciuria 2-Hypercalcemia 3-Nephropathy (nephrocalcinosis) 4-Anorexia , vomiting , depression
46
The measure for immobilizated patients ?
1-Calcium to creatinine ratio(>0.2) | 2-Serum ionized calcium
47
Alkaptonuria: | Feature ?
1-Homogentisic acid oxidase deficiency | 2-Arthritis + dark urine ( exposure to air)
48
Wilson disease | Feature ?
``` 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
Dubin-Johnson Syndrome
1-AR 2-Unable to excrete conjugated bilirubin. 3-Present in adolescent
50
Exogenous hyperinsulinemia:
1-Hypoglycemia 2-Hyperinsulinemia 3-Low C-peptide
51
Rickets: | Lab ?
``` 1-High PTH 2-Normal Ca 3-Low phosphate in blood 4-High serum Alkaline phosphatase 5-Hypocalciuria 6-Hyperphosphaturia ```
52
Hypocalcemia of newborn :
``` Early(first 72 hours) -Idiopathic -Maternal illness ( diabetes, toxaemia, hyperparathyroidism) -Neonatal distress Late( after 72 hours ) -Hypoparathyroidism -high phosphate intake ```
53
Osteogenesis imperfecta : | Lab?
1-Normal Ca | 2-Normal Phosphate .
54
Hypoparathyroidism ; | Labs :
1-Low Ca | 2-High Phosphate .
55
Medullary thyroid carcinoma
- Tumor secrets Calcitonin - Normal Ca - Normal Phosphate .
56
Laurence-moon-Biedl Syndrome
- AR - Obesity - Mental retardation - Hypoganadism - Polydactyly - Retinitis pigmentosa - Night blindness
57
Polycystic ovary disease | Feature ?
1-presentation after puberty 2-Obesity 3-Hirsutism 4-Secondary amenorrhea
58
Central diabetes insipidus : | Feature ?
1-Excretion of hypotonic urine 2-Polyuria, polydipsia, 3-Hypernatremic dehydration
59
Hyperaldosteronism | Features ?
1-Hypernatremia 2-Hypokalemia 3-Hyperchloremia 4-Alkalosis .
60
Addison's disease : ( crisis )
- Hyponatremia - Hyperkalemia - Shock - Autoimmune, TB - Hyperpigmentation on gums skin
61
Holt-Oram Syndrome | Feature ?
- Hypoplastic radii - Thumb abnormalities - Cardiac anomalies - Missing pectoralis muscle
62
Infants of diabetic mother | Feature ?
- Macrosomia - Cardiac septal hypertrophy - Congenital heart disease - Caudal regression - Vertebral defects - Single umbical artery
63
Appropriate genetic mechanism for the following disease :
``` -Mitochondrial inheritance : Disease of brain and muscle -Genomic imprinting : Prader-Willi -Triplet repeat expansion disorder : Fragile X, Huntington, Myotonic dystrophy . -Mosaicism: Hypomelanosis, Down Syn ```