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Paediatrics > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What is the definition of precocious puberty for boys and girls ?

A

<8.5years girls

<9.5 years boys

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2
Q

What are the characteristics clinical/investigation features of GnRH dependent precocious puberty ?

A 
Progressive pubertal clinical changes 
Advanced bone age 
Accelerated linear growth 
High FSH, LH 
High oestradiol girls / testosterone boys
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3
Q

What are 6 causes of central precocious puberty? What is the most common

A

Idiopathic 80% (almost always girls)
Hypothalamic hamartoma (most common CNS tumour)
International adoption
Other CNS tumours
Acquired CNS insults (radiation, hydrocephalus)
Neurofibromatosis type 1

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4
Q

What is the treatment for central precocious puberty?

A

Leuprolide (Lucrin)
GnRH analogue - overrides pulsatile endogenous GnRH
Monitor by measuring LH suppression

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5
Q

What is the triad defining McCune Albright syndrome ?

A

Cafe au lait spots (don’t cross midline, irregular Coast of Maine border, increase with age)
Peripheral precocious puberty
Polyostotic fibrous dysplasia

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6
Q

What is the inheritance of McCune Albright Syndrome ?

A

Somatic/post zygotic mutation

Ie not inherited

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7
Q

What investigation will differentiate central from peripheral precocious puberty ?

A

GnRH stimulation test

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8
Q

Name 4 syndromal causes of hypogonadotrophic hypogonadism

A

CHARGE
Prader Willi
Kallman
Bardet Biedl

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9
Q

Name a metabolic cause of hypergonadotrophic hypogonadism (girls)

A

Galactosaemia
(Deficiency in GALT)

Causes progressive ovarian failure - unclear mechanism

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10
Q

What is the half life of T4 (thyroxine) ?

A

7 days

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11
Q

What is the mechanism of action of carbimazole?

A

Inhibits thyroid peroxidase - inhibiting iodination of DIT and MIT
Thereby reducing production of T3 and T4

NB does not reduce T3/T4 release - takes weeks to have effect

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12
Q

What is the m:f for Neonatal graves ?

A

Males = females

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13
Q

What is the treatment for neonatal graves?

A

Lugol’s iodine - blocks T4 release, synthesis and uptake
Propranolol
Carbimazole

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14
Q

What should you suspect with a cause of hearing difficulties, goitre and learning difficulties ?

A

Pendred syndrome

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15
Q

What is the lifetime risk of T1DM for first degree relatives:

General pop
Paternal/ maternal offspring
Siblings
Twins

A 
General pop 0.4% 
Parental offspring 8% 
Maternal offspring 3%
Siblings 5% 
HLA identical siblings 16% 
Monozygotic twins 30-50%
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16
Q

Case of acidosis - can this be MODY?

A

No

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17
Q

What is the risk of coeliac disease associated with T1DM?

A

10% < 5 yo

3% > 10yo

18
Q

What % of children with T1DM present with DKA?

A

25%

19
Q

What % of children with T1DM have no family history?

A

95%

20
Q

What age group for T1DM have the highest risk of DKA?

A

<2yo

And adolescents

21
Q

What is the defn of DKA - mild/mod/severe?

A

Hyperglycaemia > 20
Or low bicarbonate < 15

pH
< 7.1 severe
< 7.2 mod
< 7.3 mild

22
Q

Hyperthyroidism is a risk factor for DKA true or false ?

A

True

Increases basal metabolic rate

23
Q

What effect does insulin have on glucagon ?

A

Inhibits

24
Q

In regards to CFRD are macrovascular complications common?

A

No - almost never (fat malabsorption)

25
Q

What should you suspect for small baby presenting with hyperglycaemia, gradually improves
Mum IVF

A

Transient neonatal diabetes

26
Q

Transient neonatal diabetes confers an increased risk of IDDM in later life - true or false?

A

True - in second decade

27
Q

Maternal IVF has no increased risk of genetic abnormalities - true or false

A

False - increased risk of methylation abnormalities / imprinting disorders

28
Q

What should you suspect with diabetes, seizures, developmental delay and muscle weakness?

A

DEND syndrome
Developmental delay
Epilepsy
Neonatal diabetes

29
Q

What is the gene mutation associated with MODY 3?

A

HNF1A

30
Q

What is the gene mutation associated with MODY 1?

A

HNF 4A

31
Q

What are the phenotypic features of MODY 1?

A

Present in adolescence

Progressive insulin secretory defect
Foetal macrosomia
Transient neonatal hypoglycaemia

32
Q

What is the gene mutation associated with MODY 2?

And what is the usual presentation /phenotypic features?

A 
GCK
Present since birth 
Stable mild hyperglycaemia 
Often asymptomatic 
May have abnormal OGT/GDM/LBW 
Microvascular complications are rare
33
Q

What is the gene mutation associated with MODY 3 and what is the phenotypic presentation ?

A

HMF 1A

Present in adolescence
Progressive insulin secretory defect
Renal glycosuria

34
Q

What is the gene mutation associated with MODY 5? And what is the phenotypic presentation ?

A 
HNF 1B 
Present in adolescence 
Progressive diabetes 
Pancreatic atrophy 
Exocrine dysfunction 
Renal/ urologic disease
35
Q

What is the mutation responsible for the majority of permanent neonatal diabetes due to pancreatic beta cell mutations ?

A

KATP channel (SUR1 or Kir 6.2)

Mutation alters ability of channel to close
Usually sulfonurea responsive

36
Q

What is DEND syndrome ?

A

Developmental delay
Epilepsy
Neonatal diabetes

Most severe type of Kir 6.2 mutations
(Channels also found in brain and muscle)

37
Q

What investigation is essential for girls with Turner syndrome prior to commencing pubertal induction ?

A

FSH - need to confirm that she hasn’t gone into spontaneous puberty (30%) despite 90% having gonadal failure

Need to confirm FSH is elevated ie gonadal failure

38
Q

What should you suspect from a presentation of precocious puberty and gelastic seizures ?

A

central cause

Hypothalamic hamartoma

39
Q

Which cells secrete glucagon?

A

Alpha cells in pancreas

40
Q

Which cells secrete somatostatin ?

A

Delta cells in pancreas

41
Q

What has the most effect on peak bone mass ?

A

Genetic factors

42
Q

What is the mechanism of action of fludrocortisone?

A

Synthetic analogue of aldosterone

Increases BP

Paediatrics (17 decks)

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