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Finals > Paeds: Endo > Flashcards

Paeds: Endo Flashcards

1
Q

Congenital Adrenal Hyperplasia

what is it caused by

A

a congenital deficiency of the 21-hydroxylase enzyme

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2
Q

Congenital Adrenal Hyperplasia

how is it inherited

A

autosomal recessive

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3
Q

Congenital Adrenal Hyperplasia

deficiency in which enzyme

A

21-hydroxylase.

small number of cases: 11-beta-hydroxylase

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4
Q

Congenital Adrenal Hyperplasia

you get an underproduction and overproduction of what

A

underproduction of cortisol and aldosterone

overproduction of androgens

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5
Q

Congenital Adrenal Hyperplasia

cortisol is released in response to which hormone

A

adrenocorticotropic hormone (ACTH) from the anterior pituitary.

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6
Q

Congenital Adrenal Hyperplasia

what is the main mineralcorticoid hormone

A

aldosterone

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7
Q

Congenital Adrenal Hyperplasia

where is aldosterone released and in response to what

A

released by the adrenal gland in response to renin

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8
Q

Congenital Adrenal Hyperplasia

aldosterone does what to sodium and potassium in the blood

A

increase sodium and decrease potassium in the blood

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9
Q

Congenital Adrenal Hyperplasia

what is 21-hydroxylase responsible for converting

A

progesterone into aldosterone and cortisol

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10
Q

Congenital Adrenal Hyperplasia

why is there more testosterone

A

defect in the 21-hydroxylase

increased progesterone, unable to be converted to aldosterone and cortisol

so gets converted to testosterone instead

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11
Q

Congenital Adrenal Hyperplasia

presentation in severe cases

A
  • females with ambiguous genitalia and enlarged clit
  • hyponatraemia, hyperkalaemia and hypoglycaemia leading to sx:
  • poor feeding, vomiting, dehydration, arrhythmias
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12
Q

Congenital Adrenal Hyperplasia

presentation in mild cases (female)

A
  • Tall for their age
  • Facial hair
  • Absent periods
  • Deep voice
  • Early puberty
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13
Q

Congenital Adrenal Hyperplasia

presentation in mild cases (male)

A
  • Tall for their age
  • Deep voice
  • Large penis
  • Small testicles
  • Early puberty
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14
Q

Congenital Adrenal Hyperplasia

why does hyperpigmentation occur

A

because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH

so more melanocyte simulating hormone is produced which stimulates the production of melanin (pigment)

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15
Q

Congenital Adrenal Hyperplasia

mnx

A
  • hydrocortisone
  • fludrocortisone (aldosterone replacement)
  • Female patients with “virilised” genitals may require corrective surgery
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16
Q

Congenital hypothyroidism

presentation

A
  • macroglossia
  • constipation
  • hypotonia
  • jaundice
  • poor feeding
  • poor brain development

Finals (47 decks)

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