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1 STEP Endocrinology (patho/UW) > Congenital UW > Flashcards

Congenital UW Flashcards

1
Q

DiGeorge what microdeletion?

A

22q11.2

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2
Q

1 pouche what?

A

primary tympanic cavity, auditory tube

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3
Q

primary tympanic cavity, auditory tube?

A

1 pouche

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4
Q

2 pouch?

A

Palatine tonsil

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5
Q

Palatine tonsil

A

2 pouch

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6
Q

3 pouch?

A

parathyroid gland (inferior);
thymus

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7
Q

parathyroid gland (inferior);
thymus?

A

3 pouch

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8
Q

4 pouch?

A

parathyroid gland (superior),
ultimobranchial body

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9
Q

parathyroid gland (superior),
ultimobranchial body?

A

4 pouch

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10
Q

neural crest fails to migrate into derivates of the 3rd and 4th pharyngeal pouches –> what hypoplasia –> what symtoms?

A

–> parathyroid and thymic hypoplasia -> hypocalcemia and T cell deficiency.

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11
Q

Hypocalcemia in digeorge, what symtoms?

A

increased neuromuscular excitability, which manifest as tetany, carpopedal spasm and seizures.

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12
Q

hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips?

A

Chvostek sign

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13
Q

hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm?

A

trousseau sign

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14
Q

trousseau sign?

A

hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm

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15
Q

Chvostek sign?

A

hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips

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16
Q

if additionally in digeorge are involved 1st and 2nd pouches, what symtoms?

A

hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate

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17
Q

hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate?

A

if additionally in digeorge are involved 1st and 2nd

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18
Q

anancephaly - what part failure to close?

A

Anterior neuropore

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19
Q

Anterior neuropore?

A

anancephaly

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20
Q

anancephaly - how to prevent?

A

Neural tube defects can be prevented with maternal folic acid supplementation.

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21
Q

foramen cecum? what disease

A

thyroglosal cyst

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22
Q

thyroglosal cyst?

A

foramen cecum

23
Q

rathke pouch?

A

craniopharyngioma

24
Q

craniopharyngioma?

A

rathke pouch

25
Q

craniopharyngioma - symtoms?

A

hypopituitarism, hydrocephalus, diabetes insipidus;
NO HYPOCALCEMIA

26
Q

hypopituitarism, hydrocephalus, diabetes insipidus? NO HYPOCALCEMIA

A

craniopharyngioma

27
Q

rathke pouch - normaly develops to what?

A

anterior pituitary

28
Q

persistence of second branchial cleft (ie, second pharyngeal groove)?

A

Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle.

29
Q

Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle?

A

persistence of second branchial cleft (ie, second pharyngeal groove)

30
Q

The thyroid gland is formed from an …….

A

outpouching (evagination) of the pharyngeal epithelium and subsequently descends to the lower neck anterior to the upper trachea and larynx.

31
Q

thyroglossal duct extends from what to what?

A

from the foramen cecum on the dorsal surface of the tongue to the superior border of the thyroid isthmus

32
Q

lingual thyroid - what embriologic process is impaired?

A

MIGRATION

33
Q

Enlargement of a lingual thyroid can lead to what symptoms?

A

obstructive symptoms (eg, dysphagia, dysphonia, dyspnea), typically during times of heightened thyroid stimulation (eg, puberty, pregnancy).

34
Q

Sometimes, this lingual thyroid is the only thyroid tissue in the body, so hypothyroidism can occur if it is removed.

A

.

35
Q

Failure of apoptosis during fetal development can result in what?

A

duodenal atresia and syndactyly (ie, fusion of adjacent digits).

36
Q

duodenal atresia and syndactyly (ie, fusion of adjacent digits)?

A

Failure of apoptosis during fetal development

37
Q

Do thyroid cells differentiate after their descent from the pharynx?

A

yes

38
Q

defective differentiation - what thyroid consequence?

A

Impaired thyroid follicle formation

39
Q

What is fusion?

A

Fusion is the joining of two opposing tissues to form one continuous structure.

40
Q

Disruption of fusion? what diseases

A

variety of birth defects, including cleft palate, atrioventricular septal defects, pancreatic divisum, and neural tube defects.

41
Q

Failure of PROLIFERATION during fetal development can result in …

A

organ hypoplasia (eg, thymus abnormalities in DiGeorge syndrome).

42
Q

posterior pituitary arises from what?

A

extension of hypothalamic neurons

43
Q

Rathkes pouch cells remain where during pituitary development?

A

in diencephalon (posterior region of the forebrain)

44
Q

craniopharyngioma. 3 components?

A

solid (tumor cells)
cystic (machinery oil liquid)
calcifications

45
Q

FA. Thyroid diverticulum arises from?

A

floor of the primitive pharynx –> and descends into the neck

46
Q

FA. Thyroid diverticulum conected to tongue by …

A

thyroglosal duct

47
Q

FA. What normally happens to thyroglosal duct?

A

dissapers;
if persists, then as a cyst or pyramidal lobe of thyroid

48
Q

FA. What is normal remnant of the thyroglosal duct?

A

foramen cecum

49
Q

FA. Thyroglosal duct cyst presents as?2

A
  1. anterior midline mass
    or 2. protrusion of the tongue
50
Q

FA. differ thyroglosal duct cyst that presents as protrusion of the tongue vs persistent cervical sinus?

A

persistent cervical sinus leads to pharyngeal cleft cyst in LATERAL neck

51
Q

FA. Origin of thyroid folicular cells and parafolicular cells (aka C cells that produce calcitonin)?

A

endoderm

52
Q

FA. Origin of adrenal cortex?

A

mesoderm

53
Q

FA. Origin of adrenal medulla?

A

neural crest

54
Q

FA. Origin of anterior pituitary?

A

oral ectoderm, konkreciau Rathke pouch

1 STEP Endocrinology (patho/UW) (12 decks)

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