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Case 2 > Puberty (normal and abnormal) > Flashcards

Puberty (normal and abnormal) Flashcards

1
Q

What is puberty

A

The process of becoming sexually mature (fertile)

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2
Q

What is adolescence

A

The process of rapid physical and physiological maturation between childhood and adulthood

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3
Q

What are the non-pathological influences on the timing of puberty

A

Genetic: racial, familial, sex. Endocrine pathology: hypothalamo-pituitary, gonadal, adrenal. Environment: socioeconomic, secular trend, light and dark rhythms. Health linked to stress: emotional and physical. Drugs and body composition influence physical

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4
Q

What is menarche onset

A

Puberty starting

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5
Q

Who have earlier menarche

A

Those from urban areas and those from a higher socio-economic background

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6
Q

When do boys start puberty compared to girls

A

One year later

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7
Q

What is the normal puberty range for girls

A

8-18

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8
Q

When is girls peak growth

A

9-14

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9
Q

What is the normal puberty range for boys

A

10-15

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10
Q

What is boys peak growth

A

10-16

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11
Q

What is a prader orchidometer

A

It is used to assess testicular volume in young boys. When the beads become yellow it indicates the onset of puberty

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12
Q

Describe the Tanner stages of female development

A

5 stages of female breast and pubic hair development. Stages 3-4 are intermediate stages

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13
Q

Describe uterine volume between 0-8

A

Remains fairly constant between 2-1.5ml

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14
Q

Describe uterine volume between 8-14

A

Uterine volume increases to 40-14ml

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15
Q

What is ovarian volume from 0-5

A

0.4-1.0 ml

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16
Q

What is ovarian volume from 6-10

A

0.4-1.9 ml

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17
Q

By the time a girl reaches 16 what is her ovarian volume

A

1.8-22ml

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18
Q

How do ovaries change post puberty

A

from 0.6-6 ml

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19
Q

What regulates pubertal changes

A

Endocrine changes

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20
Q

In females what are aromatides (e.g. LH) converted to

A

Oestrogen

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21
Q

In men what is LH converted to

A

Testosterone and FSH used in sperm production

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22
Q

What do the phases of testicular function show

A

That post-natal boys go through a mini puberty

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23
Q

What effect does the gonadal feedback to the hypothalamic pulse generator have

A

A powerful inhibitory effect which prevents further production of LH and FSH

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24
Q

What happens to the inhibitory feedback loop at the onset of puberty

A

It is impaired

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25
Q

What is the gender difference in growth spurt

A

Girls grow fastest in their first few years of puberty. Girls pubertal peak is two years before boys

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26
Q

What is the relationship between growth hormone secretion and height velocity in puberty

A

The higher the mean 24-hour GH the greater the height velocity in cm/month

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27
Q

What is the effect of age on skeletal growth proportions

A

Growth doesn’t affect all parts of the skeleton equally

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28
Q

Describe the critical weight hypothesis

A

Different races have different critical weights at which menarche will occur. A minimum level of stored, easily mobilised energy is necessary for ovulation and menstrual cycle in girls. Having a minimum level of stored energy makes physiological sense as if you become pregnant it drains energy stores therefore you must have a store to become pregnant

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29
Q

What prevents the onset of pubertal development

A

Anorexia nervosa which is deliberate starvation

30
Q

What does leptin stimulate

A

Reproductive axis (links nutritional store to puberty). Leptin has gonadal function

31
Q

Describe congenital leptin deficiency

A

Normal birth weight, severe early onset obesity and hyperphagia, clincally and biochemically prepubertal aged 8 years, severely decreased serum leptin concentration, homozygous guanine nucleotide deletion of leptin gene

32
Q

Describe the effect of congenital leptin deficiency on puberty

A

Homozygous misense mutation of leptin gene impaired mutant protein secretion. 34 yr old female- primary amenorrhoea. 22 yr old male- prepubertal, biochemical hypothalamic hypogonadism (very physiologically abnormal, means hypothalamic mediated hypogonadism)

33
Q

What do mutations result in

A

Implications on the timings of the onset of puberty

34
Q

What are the causes of delayed puberty

A

Constitutional delay- hypogonadotrophic hypogonadism, hypergonadotrophic hyopgonadism

35
Q

Describe the causes of hypogonadontrophic hypogonadism

A

CNS disorders: tumours, other acquired disorders, congenital disorders. Isolated gonadotrophin deficiency. Multiple pituitary hormone deficiency. Others: Prader-Willi and Laurence-Moon-Bardet-Biedl syndromes, chronic disease, weight loss, anorexia, increased physical activity in females, hypothyroidism

36
Q

Describe the causes of hypergonadotrophic hypogonadism

A

Klinefelter syndrome. Other forms of testicular failure, anorchia, cryptochidism. Turner syndrome, otehr forms of primary ovarian failure. XX & XY gonadal dysgenesis.

37
Q

What is hypergonadism

A

A failure of feedback resulting in increased gonadotrophin levels

38
Q

What is the effect of delayed puberty:

A

Relatively short stature, low self-esteem confidence and inadequacy, rejection, disturbed relationship with parents, attention seeking and immature behaviour, persistence of psychological features into adult life.

39
Q

What does it mean if you have the correct height ages for bone age

A

You are normal and will achieve normal growth

40
Q

What results in a greater peak height

A

Early onset of puberty

41
Q

What is involves in treatment of delayed puberty

A

Investigations, reassurance, testosterone, ethinyloestradiol

42
Q

What investigations would you do if indicated into delayed onset of puberty

A

Bone age, karyotype, gonadotrophins, sex steroids and LHRK usually helpful

43
Q

Describe the use of testosterone in delayed puberty

A

Started from ages 14 years until testicular volume >8mls

44
Q

What are the two different types of testosterone you can give

A

Sustanon (50-100mh monthly I/M). Testosterone undecanoate (40mg daily orally)

45
Q

If there is no testicular enlargement despite virilisation what is required

A

Pituitary-gonadal testing

46
Q

Describe ethinyloestradiol

A

5-10mg daily until puberty established

47
Q

Do you use growth hormone in delayed onset puberty

A

No, no benefit

48
Q

Describe how treatment for delayed onset puberty works

A

You give a low dose of testosterone to activate hypothalamic balance= GnRH= testosterone development. Testosterone is given as monthly injections. Sustanon is not very good as much is metabolised

49
Q

What do you have to be careful with when someone has delayed onset puberty

A

You don’t miss an underlying pathology

50
Q

How is oestrogen given to females

A

Orally

51
Q

How is testosterone given to males

A

Via intramuscular injections

52
Q

Describe Kallmann’s syndrome

A

Hypogonadotrophic, anosmia, usually X-linked, mutation in KAL 1 gene, olfactory hypo/agenesis. You have failure of pubertal development and no sense of smell (anosmia).

53
Q

Describe Prader-Willi syndrome

A

Neonatal hypotonia and poor feeding, later hyperphagia and obesity, behavioural problems, poor growth, hypogonadotrophic hypogonadism, loss of paternal allele at 15q11-13 (loss of paternal allele on long arm of chromosome 15), possible benefit from GH therapy. Failure of GnRH production= hypogonadism.

54
Q

Describe Turner’s syndrome

A

Missing/ major abnormality in X chromosome. Not all individuals have obvious features

55
Q

Describe vanishing testes

A

Can’t find testes as they have undergone torsion after 1st trimester

56
Q

What are the types of precocious puberty

A

Isolated breast development. Isolated pubic hair development and signs of androgen excess. Central precocious puberty. Gonadotrophin-independent precocious puberty. Other rare causes

57
Q

Describe isolated breast development

A

Premanture thelarce

58
Q

Describe isolated pubic hair development and signs of androgen excess

A

adrenarche, congenital adrenal hyperplasia- adrenal tumours

59
Q

Describe central precocious puberty

A

Idiopathic, 2y to intracranial tumours

60
Q

Describe gonadotrophin-independent precocious puberty

A

McCune-Albright syndrome, testotoxicosis

61
Q

Describe other rare causes of precocious puberty

A

Hypothyroidism, gonadotrophin secreting tumours, exogenous steroids, rare syndromes e.g. Kabuki

62
Q

Describe central precocious puberty

A

Cause of precocious puberty. Large tumour impairing feedback mechanism to prevent early onset puberty.

63
Q

What are type 1 neuropathies

A

A cause of precocious puberty

64
Q

Describe hypothalamic haematoma

A

A cause of precocious puberty. Activates hypothalamic pituitary axis

65
Q

Describe congenital adrenal hyperplasia

A

A cause of precocious puberty. No oestrogen (excess androgen), no breasts

66
Q

Describe ovarian granulosa cell tumour

A

A cause of precocious puberty. Large mass in pelvis, hormonally active so secretes oestrogen

67
Q

Describe gonadotrophin-releasing hepatoblastoma

A

A cause of precocious puberty. Low pH, liber tumour, secreting hCG, hCG binds to LH receptor resulting in testicular growth

68
Q

In boys what is often the underlying cause of precocious puberty

A

Something serious

69
Q

How do you treat premature thelarche and adrenarche

A

No treatment

70
Q

How do you treat secondary precocious puberty

A

Treat underlying condition (e.g. C.A.H, cerebral tumour etc.)

71
Q

How do you treat gonadotrophin dependent precocious puberty

A

LHRH analogue (need to replace missing hormones)

72
Q

How do you treat gonadotrophin independent precocious puberty

A

Anti-androgen (e.g. cyproterone, flutamide). Aromatase inhibior (e.g. tesolactone and spironolactone). Steroid biosynthesis inhibitor (e.g. ketoconazole). All harder to treat as not associated with gonasotrophin production. Possible use of growth hormone

Case 2 (8 decks)

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