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Yr 4 - Paediatrics > Development: Puberty > Flashcards

Development: Puberty Flashcards

1
Q

What age does puberty typically start in boys & girls?

A

Boys: 10-15
Girls: 8-14

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2
Q

How long does puberty typically take from start to finish?

A

4 years

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3
Q

What scale can be used to determine the pubertal stage based on examination findings of sex characteristics.?

A

Tanner staging

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4
Q

What is the first sign of puberty in males?

A

Testicular growth

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5
Q

What testicular volume indicate the onset of puberty?

A

> 4ml

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6
Q

When do boys typically have their maximum height spurt?

A

14

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7
Q

What is the first sign of puberty in girls?

A

Breast development

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8
Q

When do girls typically have their maximum height spurt?

A

Early in puberty (12) before menarche.

There is an increase of only about 4% of height following menarche.

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9
Q

When do girls typically start their periods?

A

13

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10
Q

What is precocious puberty?

A

Defined as being 2-2 ½ SDS from the mean.

I.e. pubertal changes in boys <8 /yo and girls <9 y/o

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11
Q

Is precocious puberty more common in males or females?

A

Females

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12
Q

Define thelarche

A

The first stage of breast development

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13
Q

Define adrenarche

A

Refers to the point when your adrenal cortex matures.

Females: There is increased production of androgens by the adrenal glands, converted to oestrogens by the liver, ovaries and peripheral fats.

Males: Increased androgen production.

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14
Q

What can precocious puberty be classified into?

A

1) Gonadotrophin dependent (‘central’, ‘true’)

2) Gonadotrophin independent (‘pseudo’, ‘false’)

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15
Q

What stage of Tanner Stages of Sexual Development does menarche usually coincide with?

A

3

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16
Q

What does adrenarche lead to in females?

A

1) Increased sebaceous gland activity ± acne
2) Sweating
3) Hair growth (pubic hair follows axillary hair)
4) Body odour

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17
Q

What does adrenarche lead to in males?

A

1) Increased axillary, pubic and facial hair
2) Deepened voice
3) The ability to ejaculate developing

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18
Q

Stages of testicular development in puberty?

A

1) Testicular enlargement. This can be measured using an orchidometer, which is a string with 12 different sized beads, corresponding to stages of testicle growth.

2) Increased pigmentation.

3) Scrotal thickening.

4) Penile growth and thickening.

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19
Q

What is gonadotrophin dependent (‘central’, ‘true’) precocious puberty due to?

A

Due to premature activation of the hypothalamic-pituitary-gonadal axis.

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20
Q

Are FSH and LH levels high or low in gonadotrophin dependent (‘central’, ‘true’) in precocious puberty

A

FSH & LH are raised

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21
Q

What is gonadotrophin independent (‘pseudo’, ‘false’) precocious puberty due to?

A

Due to excess sex hormones.

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22
Q

Are FSH and LH levels high or low in gonadotrophin independent precocious puberty?

A

FSH & LH are low

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23
Q

Underlying cause of precocious puberty in males vs females?

A

males - uncommon and usually has an organic cause e.g. trauma or tumour

females - usually idiopathic or familial and follows normal sequence of puberty

24
Q

How can testes development indicate cause of precocious puberty in males?

A

bilateral enlargement = gonadotrophin release from intracranial lesion

unilateral enlargement = gonadal tumour

small testes = adrenal cause (tumour or adrenal hyperplasia)

25
Q

What is the development of acne in puberty linked to?

A

Linked to increased sebaceous gland activity and the production of free fatty acids.

The inflammation and consequent pustule formation around the sebaceous glands occur as a result of colonisation by microorganisms.

26
Q

What is gynaecomastia?

A

breast development in boys

27
Q

Gynaecomastia is a very common side effect of puberty.

What is it caused by?

A

It is caused by an initial imbalance of oestrogen and androgens at puberty onset, with oestrogen initially raised, causing breast tissue growth. Reassurance is usually all that is required.

28
Q

What are some causes of true gonadotrophin dependent precocious puberty?

i.e. central

A

1) CNS lesions e.g. GnRH secreting hamartoma

2) CNS tumours

3) Central malformation or damage e.g. hydrocephalus, neurofibromatosis

4) Acquired: post-sepsis, surgery, radiotherapy, trauma, birth anoxia

29
Q

What are some causes of false (gonadotrophin independent) precocious puberty?

i.e. peripheral –> causing increased secretion of sex hormones

A

1) Gonadal: ovarian cyst, ovarian tumour, Leidig cell tumour of testes

2) Adrenal: tumours, congenital adrenal hyperplasia

3) Ectopic hCG production by germ cell tumour

4) Exogenous sex steroids

5) Hypothyroidism

6) McCune Albright syndrome: polyostotic fibrous dysplasia

30
Q

What is McCune-Albright syndrome?

A

A genetic condition that affects bone growth, skin pigmentation and the body’s hormone balance.

Bone abnormalities such as easily broken bones, and premature sexual maturity are typical signs of the condition.

31
Q

What are some consequences of early puberty?

A

1) Short stature

2) Psychological disturbance: child treated as older than their age, deprived of their childhood.

3) Early menarche: practical consideration with onset in primary school children where the school isn’t set up for it

4) Safeguarding concerns of early development, particularly in vulnerable special educational needs children

32
Q

When can late onset puberty be diagnosed?

A

If there are no signs seen by the age of 13 ½ in boys and 13 in girls.

Can also be diagnosed in girls who have not had their first menstrual period by the age of 16.

33
Q

Give some causes of delayed puberty in both sexes

A

1) Maturational delay: commonly runs in families

2) Gonadal failure: hypogonadotropic hypogonadism (high LH and FSH)
- XXY, XO, XY/XO and variants (Turners/Klinefelters)
- Abnormal gonad development (genes SRY, SF-1, WT-1 etc)

3) Hypothalamic Pituitary dysfunction (hypogonadotropic hypogonadism (low FSH and LH):
- Tumours, infection, trauma
- Genetic e.g. Kallmann Syndrome

4) Chronic and severe disease

5) Chemo/radiotherapy

6) Metabolic: Glycogen storage disorders, galactosaemia

34
Q

What are some causes of delayed puberty only seen in girls?

A

1) Turner’s Syndrome- the absence of one of the X chromosomes

2) Anorexia Nervosa

3) Low body weight/athletic lifestyle

4) Autoimmune failure- premature ovarian failure

35
Q

Define hypogonadism

A

A lack of the sex hormones (oestrogen & testosterone) that normally rise prior to and during puberty.

36
Q

What are the 2 types of hypogonadism that can cause delayed puberty?

A

1) Hypogonadotrophic hypogonadism

2) Hypergonadotrophic hypogonadism

37
Q

What is hypogonadotrophic hypogonadism?

A

There is a deficiency of LH and FSH, leading to a deficiency of testosterone and oestrogen.

Therefore, you get “hypogonadism” as a result of “hypogonadotropism”.

38
Q

What is hypergonadotrophic hypogonadism?

A

The gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).

There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads.

Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).

39
Q

A deficiency of LH and FSH in hypogonadotropic hypogonadism is the result of abnormal functioning of the hypothalamus or pituitary gland.

What are some causes of this?

A
  • Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer
  • Growth hormone deficiency
  • Hypothyroidism
  • Hyperprolactinaemia (high prolactin)
  • Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
  • Excessive exercise or dieting can delay the onset of menstruation in girls
  • Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
  • Kallman syndrome
40
Q

Hypergonadotrophic hypogonadism is the result of abnormal functioning of the gonads. What are some causes of this?

A

1) Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)

2) Congenital absence of the testes or ovaries

3) Kleinfelter’s Syndrome (XXY)

4) Turner’s Syndrome (XO)

41
Q

What is Kallman syndrome?

A

A genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty.

It is associated with a reduced or absent sense of smell (anosmia).

42
Q

What is the first step in investigating delayed puberty?

A

Take a detailed history of their general health, development, family history, diet and lifestyle.

An examination to assess height, weight, stage of pubertal development and features of underlying conditions.

43
Q

Initial investigations in delayed puberty?

A

Can be used to look for underlying medical conditions:

1) FBC and ferritin: anaemia

2) U&Es: CKD

3) Anti-TTG or anti-EMA antibodies for coeliac disease

44
Q

What hormonal blood tests can be done in delayed puberty?

A

1) Early morning serum FSH and LH (the gonadotropins).

2) Thyroid function tests

3) Growth hormone testing.

4) Serum prolactin

45
Q

Describe early morning serum FSH and LH levels in hypogonadotrophic hypogonadism

A

Low

46
Q

Describe early morning serum FSH and LH levels in hypergonadotrophic hypogonadism

A

High

47
Q

What is often used as a screening test for GH deficiency?

A

Insulin-like growth factor I

48
Q

What genetic conditions may be tested for in delayed puberty?

A

1) Kleinfelter’s syndrome (XXY)

2) Turner’s syndrome (XO)

49
Q

What imaging may be useful in delayed puberty?

A

1) XRay of the wrist to assess bone age and inform a diagnosis of constitutional delay

2) Pelvic US in girls to assess the ovaries and other pelvic organs

3) MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

50
Q

What does a Leidig cell tumour produce?

A

Testosterone

51
Q

What type of precocious puberty does a Leidig cell tumour cause?

A

Gonadotrophin independent / false / peripheral

52
Q

What can an ovarian tumour or cyst produce?

A

Oestrogen

53
Q

What type of precocious puberty can an ovarian tumour or cyst cause?

A

Gonadotrophin independent / false / peripheral

54
Q

What type of precocious pubety can a germ cell tumour cause? Why?

A

Germ cell tumours produce AFP and hCG.

Production of hCG can lead to gonadotrophin independent precocious puberty (as hCG directly stimulates the production of testosterone, oestrogen, & sperm).

55
Q

What type of precocious puberty can congenital adrenal hyperplasia cause?

A

Gonadotrophin independent / false / peripheral

56
Q
A

Yr 4 - Paediatrics (78 decks)

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