Paeds- Endo and Reproductive Flashcards

1
Q

give the fasting, OGTT and HbA1c levels for:

diabetes

A

fasting- >7mmol/L

OGTT- >11.1mmol/L

HbA1c- >6.5%

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2
Q

give the fasting, OGTT and HbA1c levels for:

normal levels

A

fasting- 3.5-5.6mmol/L

OGTT- <7.8mmol/L

HbA1c- 4-5.6%

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3
Q

give the fasting, OGTT and HbA1c levels for:

impaired glucose tolerance/ pre-diabetes

A

fasting- <7mmol/L

OGTT- 7< x <11 mmol/L

HbA1c- 5.7-6.4%

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4
Q

symptoms of DKA

A
  • vomiting
  • acidosis
  • reduced conscious level
  • ketonuria
  • Kussmaul breathing
  • ketonic breath
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5
Q

how is DKA managed?

A
  • resuscitate
  • correct dehydration
  • insulin after 1 hour- wait 1 hour to reduce hypokalaemia risk
  • monitor
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6
Q

aetiology of hypoglycaemia

A
  • excess exogenous insulin (e.g. too much insulin in a diabetic patient)
  • B-cell tumour
  • non-insulin causes- liver disease, ketonic hypoglycaemia, addisons
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7
Q

how is severe hypoglycaemia managed?

A
  • nil by mouth
  • glucagon SC or IM injection
  • glucose IV
  • give sugar when conscious
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8
Q

congenital causes of hypothyroidism

A
  • maldescent of thyroid
  • dyshormonogenesis
  • iodine deficiency
  • TSH deficiency- pituitary dysfunction
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9
Q

acquired causes of hypothyroidism

A

prematurity

Hashimotos

Downs

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10
Q

how does a paediatric patient present with congenital hypothyroidism?

A
  • difficult- features become more obvious with age
  • faltering growth
  • prolonged jaundice
  • constipation
  • large tongue
  • goitre
  • umbilical hernia
  • delayed development
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11
Q

how does a paediatric patient present with acquired hypothyroidism?

A
  • short stature
  • cold intolerance
  • dry skin
  • bradycardia
  • thin, dry hair
  • delayed puberty
  • obesity
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12
Q

how is hypothyroidism managed?

A

levothyroxine

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13
Q

what is a major complication of hypothyroidism and how is it managed?

A

thyroid storm !

IV hydrocortisone, IV fluids and propanolol

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14
Q

what is congenital adrenal hyperplasia?

A

most common non-iatrogenic cause of insufficient cortisol and mineralocorticoid secretion

results in decreased cortisol and mineralocortoids

and INCREASED sex hormones

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15
Q

what enzyme is commonly deficient in patients with congenital adrenal hyperplasia?

A

21-hydroxylase

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16
Q

how does congenital adrenal hyperplasia present in females?

A

Virilisation of external genitals

clitoral hypertrophy

variable fusion of labia

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17
Q

how does congenital adrenal hyperplasia present in males?

A

enlarged penis and pigmented scrotum (precocious puberty)

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18
Q

describe the presentation of a salt-losing adrenal crisis in males

A
  • weight loss
  • vomiting
  • hypotonia and circulatory collapse
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19
Q

how is congenital adrenal hyperplasia diagnosed?

A

raised levels of 17 alpha-hydroxy-progesterone in blood

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20
Q

how is salt-losers adrenal crisis in CAH diagnosed?

A
  • low plasma sodium
  • high plasma potassium
  • metabolic acidosis
  • hypoglycaemia
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21
Q

how is salt-losers adrenal crisis managed?

A

sodium chloride, glucose, IV hydrocortisone

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22
Q

describe the long-term management of congenital adrenal hyperplasia

A
  • lifelong glucocorticoids (hydrocortisone)
  • mineralocorticoids (fludrocortisone)
  • monitor growth, skeletal maturity and plasma androgen levels
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23
Q

what is Kallmann’s?

A

hypogonadotrophic hypogonadism

x-linked recessive trait causing failure of GnRH secreting neurons

24
Q

describe the classic features of Kallmann’s in a boy

A

lack of smell (anosmia) and delayed puberty

25
Q

give some features of Kallmann’s

A
  • delayed puberty
  • hypogonadism
  • anosmia
  • cleft lip/ palate
  • tall
26
Q

what is Precocious puberty?

A

development of sexual characteristics before 8 years in females and 9 years in males

27
Q

what is thelarche?

A

first stage of breast development

28
Q

what is adrenarche?

A

maturation of the adrenal gland, leading to androgen production- causing body odour and mild acne

29
Q

how can Precocious puberty be classified?

A
  • gonadotrophin dependent

- gonadotrophin independent

30
Q

how can gonadotrophin dependent and independent precocious puberty be differentiated?

A

FSH and LH raised in dependent, low in independent

31
Q

what does bilateral enlargement of the testes indicate?

A

gonadotrophin release from intracranial lesion

32
Q

what does unilateral enlargement of a teste indicate?

A

gonadal tumour

33
Q

if the testes are small, what can this imply?

A

adrenal cause (tumour/ adrenal hyperplasia)

34
Q

what is androgen insensitivity syndrome?

A

X-linked recessive condition due to end-organ resistance to testosterone causing a genotypically male child (46XY) to have a female phenotype

35
Q

features of androgen insensitivity syndrome

A

primary amenorrhoea

undescended testes causing groin swelling

breast development

36
Q

how is androgen insensitivity syndrome diagnosed?

A

buccal swear or chromosomal analysis to show 46XY

37
Q

how is androgen insensitivity syndrome managed?

A
  • counselling- raise child as female
  • bilateral orchidectomy (as there is an increased risk of testicular cancer)
  • oestrogen therapy
38
Q

where are palpable undescended testes typically felt?

A

external inguinal ring

39
Q

what scale is used to describe physical development based on external sex characteristics?

A

Tanner

40
Q

what is pubarche?

A

growth of pubic hair

41
Q

what is the first sign of puberty in boys?

A

first ejaculation and testicular size >3ml

42
Q

define delayed puberty

A

The absence of secondary sexual characteristics by age 14 or 16

43
Q

what is the most common cause of delayed puberty in boys?

A

constitutional delay (runs in family)

44
Q

most common cause of delayed puberty in girls

A

Turner syndrome (45X0)

45
Q

Give 3 consequences of delayed puberty

A
  • psychological problems
  • reproduction defects
  • reduced bone mass
46
Q

how is delayed puberty investigated?

A

FBC, U&E, TFT, LH/FSH, karyotyping

47
Q

how is precocious puberty treated?

A

GnRH super-agonists can suppress GnRH secretion

48
Q

What is hypergonadotropic hypogonadism?

A

Primary gonadal failure e.g. testes/ovarian failure

49
Q

What is the affect of hypergonadotropic hypogonadism on the following:

a) FSH/LH.
b) Oestrogen/testosterone.

A

a) High FSH/LH.

b) Low oestrogen/testosterone

50
Q

Name 2 diseases that are examples of hypergonadotropic hypogonadism.

A
  1. Turner syndrome (45X0).

2. Klinefelter syndrome (47XXY).

51
Q

What is hypogonadotropic hypogonadism?

A

Secondary gonadal failure e.g. hypopituitary or hypothalamic problem.

52
Q

What is the affect of hypogonadotropic hypogonadism on the following:

a) FSH/LH.
b) Oestrogen/testosterone.

A

a) Low FSH/LH.

b) High oestrogen/testosterone.

53
Q

Name a disease that is an example of hypogonadotropic hypogonadism.

A

Kallman syndrome.

54
Q

Give 5 signs of Turner syndrome.

A
  1. Delayed puberty.
  2. Short stature
  3. Recurrent otitis media.
  4. CV and renal malformations.
  5. Webbed neck.
55
Q

Give 3 signs of Klinefelter syndrome.

A
  1. Azoospermia - semen contains no sperm.
  2. Gynaecomastia - enlargement of male breast tissue.
  3. Testicular size <5ml.
  4. Reduced pubic hair.
  5. Tall stature.