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TAS Growth And Puberty ✅ > Delayed Puberty ✅ > Flashcards

Delayed Puberty ✅ Flashcards

1
Q

What is delayed puberty defined as in girls?

A

Lack of evidence of any breast development in girls by the age of 13 years

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2
Q

What is delayed puberty defined as in boys?

A

Failure of testicular enlargement to at least 4ml in boys by the age of 14 years

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3
Q

What should be included in the history of a child with delayed puberty?

A
  • Details of previous growth pattern
  • Symptoms or presence of other chronic disease, including details of medications
  • Features suggestive of gonadal impairment
  • Presence of symptoms suggestive of hypopituitarism
  • Impaired sense of smell
  • Family history of delayed puberty
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4
Q

What features on history might suggest gonadal impairment?

A
  • Cryptorchidism
  • Need for orchidopexy
  • Gonadal irradiation
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5
Q

What symptoms might suggest hypopituitarism?

A
  • Headache
  • Visual disturbance
  • Significant neonatal hypoglycaemia
  • Prolonged jaundice
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6
Q

What might an impaired sense of smell alongside delayed puberty suggest?

A

Kallmann’s syndrome

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7
Q

What produces the impaired sense of smell in Kallmann’s syndrome?

A

A defect in olfactory nerve development

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8
Q

What should be included when taking a family history in delayed puberty?

A

Timing of maternal menarche

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9
Q

What should be noted on examination in a child with delayed puberty?

A
  • Height
  • Weight
  • Tanner stages
  • Testicular volumes
  • Dysmorphic signs
  • Signs suggestive of an underlying disorder
  • Signs of raised ICP
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10
Q

What should a measurement of height be compared with when assessing delayed puberty>

A

The target height range based on parental height

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11
Q

What syndromes associated with delayed puberty might have dysmorphic signs?

A
  • Turner’s syndrome

- Klinefelter’s syndrome

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12
Q

Give 3 signs that may be suggestive of an underlying disorder in delayed puberty?

A
  • Clubbing
  • Hypertension
  • Harrison’s sulci
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13
Q

What features on examination might suggest congenital hypopituitarism?

A
  • Midline defects of the craniofacial skeleton

- Presence of optic atrophy

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14
Q

What examinations to identify signs of raised ICP should be done in delayed puberty?

A
  • Fundoscopy

- Visual field examinations

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15
Q

What investigations should be considered in a child with delayed puberty?

A
  • Left wrist XR
  • Pelvic ultrasound
  • Relevant tests of any system thought to be a cause of chronic disease impacting on the timing of puberty
  • Karyotyping
  • Basal blood sample
  • Testicular function testing
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16
Q

What is the purpose of left wrist XR in delayed puberty?

A

Guide to the extent of physiological delay

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17
Q

How is bone age calculated from a left wrist XR?

A

Tanner-Whitehouse methodology

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18
Q

What information can be obtained from a pelvic USS that may be useful in delayed puberty?

A
  • Size of uterus
  • Extent of endometrial response
  • Size of ovaries
  • Presence of ovarian follicles
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19
Q

Why might karyotyping be done in delayed puberty?

A

To exclude Turner’s syndrome or Klinefelter’s syndrome

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20
Q

What should be measured in the basal blood sample in delayed puberty?

A
  • LH
  • FSH
  • Testosterone (boys)
  • Oestradiol (girls)
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21
Q

What do elevated basal gonadotrophins suggest in delayed puberty?

A

Primary gonadal failure

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22
Q

What is the limitation of a finding of low basal gonadotrophins in delayed puberty?

A

They do not reliably distinguish constitutionally delayed puberty from hypogonadotrophic hypogonadism

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23
Q

What is required to distinguish constitutionally delayed puberty from hypogonadotrophic hypogonadism?

A

LHRH stimulation test

24
Q

How can testicular function be assessed?

A

By measurement of testosterone response to HCG

25
Q

What is required when assessing testicular function by measuring testosterone response to HCG?

A

A specialist opinion

26
Q

Why is a specialist opinion required when measuring testosterone response to HCG?

A

For the different protocols for dynamic tests of pituitary gonadal function

27
Q

What can causes of delayed puberty be subdivided into?

A
  • Central

- Peripheral

28
Q

What is centrally delayed puberty mediated by>?

A
29
Q

What is centrally delayed puberty mediated by?

A

Abnormalities of hypothalamo-pituitary function

30
Q

What is peripheral delayed puberty mediated by?

A

Defects in gonadal function

31
Q

What is the most common cause of delayed puberty?

A

Most commonly no underlying abnormality and cause is unknown

32
Q

What is the characteristic delayed puberty with no underlying abnormality?

A

Slowing in height velocity in the years leading up to the delayed onset of puberty

33
Q

What history feature is common in delayed puberty with no underlying abnormality?

A

A family history of a similarly affected parent

34
Q

What is found on history and examination in delayed puberty with no underlying abnormality?

A

Nothing (apart from delayed physical development)

35
Q

What is the management for delayed puberty with no underlying abnormality?

A

Counselling that puberty will develop normally if given more time

If wanted, puberty can be induced

36
Q

When can puberty be induced in patients with delayed puberty with no underlying abnormality?

A

13-14 years

37
Q

How can puberty be induced in delayed puberty with no underlying abnormality?

A

Using low =rose testosterone or oestrogen

38
Q

How long is low-dose testosterone/oestrogen given to induce puberty?

A

6-12 months

39
Q

Why is low-dose testosterone/oestrogen given for 6-12 months when inducing puberty?

A

To prime the hypothalamo-pituitary axis

40
Q

Chronic diseases with what features are particuarly associated with delayed puberty?

A
  • Chronic inflmamation

- Negative energy balance due to impaired food intake or absorption

41
Q

Why are chronic diseases causing chronic inflammation or negative energy balance particuarly associated with delayed puberty?

A

Probably mediated through effects of the disease on the hypothalamic function

42
Q

How is delayed puberty caused by chronic disease treated?

A
  • Correct of underlying defect

- Sometimes, additional low-dose testosterone or oestrogen

43
Q

How long can low-dose testosterone or oestrogen be used for in delayed puberty caused by chronic disease?

A

6-12 months

44
Q

What is the purpose of low dose testosterone or oestrogen in delayed puberty caused by chronic disease?

A

Accelerate the onset of puberty

45
Q

What are the identifiable causes of centrally delayed puberty?

Rearrange

A
  • Chronic disease

- Hypogonadotrophic hypogonadism

46
Q

How can hypogonadotrophic hypogonadism cause centrally delayed puberty?

A

Through impaired hypothalamo-pituitary function

47
Q

What are the causes of hypogonadotrophic hypogonadism?

A
  • Local tumours

- Congentiail defects in pituitary development

48
Q

Give a local tumour that can cause hypogonadotrophic hypogonadism

A

Craniopharyngioma

49
Q

Give a congential defect in pituitary development

A

Kallman’s syndrome

50
Q

What are congenital defects in pituitary development caused by?

A

Mutations in a range of genes that encode proteins involved in the development, migration, or activity of GnRH-releasing neurons

51
Q

What other symptom is frequently associated with hypogonadotrophic hypogonadism?

A

Anosmia

52
Q

Why is anosmia frequently associated with hypogonadoptrophic hypogonadism?

A

Some of the genes that are mutated causing pituitary defects also regulate the migration of olfacotry neurones from the olfacotry bulbs to the hypothalamus

53
Q

What does treatment of delayed puberty caused by hypogonadotrophic hypogonadism require?

A

Testosterone or oestrogen replacement at steadily increasing doses over 2-3 years to full adult replacement

54
Q

When can primary hypogonadism occur in boys?

A
  • Failure of tests to descend normally
  • Bilateral torsion
  • Damage to testes by radiotherapy or surgery
  • In association with Klinefelter’s syndrome
55
Q

How is primary hypogonadism treated when associated with failure of puberty and virilisation in boys?

A

Induction with low-dose testosterone, steadily increased over 3 year period to adult replacement doses

56
Q

When can primary hypogonadism occur in girls?

A
  • After radiotherapy

- In association with Turner’s syndrome

57
Q

How is primary hypodonadism causing pubertal delay treated in girls?

A

Administration of oestrogen starting with a low dose and steadily increasing over 3 year period to adult replacement dose

TAS Growth And Puberty ✅ (12 decks)

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