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Early and late puberty. Tim Cheetham January 2011. 1. Normal physiology. Adrenal . Gonad . Steroid producing tissues. Adrenal glands Ovaries . Androgen. Oestrogen Androgen. Peripheral tissue. Oestrogen. Do men make oestrogen? Do women make testosterone?.

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early and late puberty
Early and late puberty

Tim Cheetham

January 2011

slide2

1. Normal physiology

Adrenal

Gonad

steroid producing tissues
Steroid producing tissues

Adrenal glands Ovaries

Androgen

Oestrogen Androgen

Peripheral tissue

Oestrogen

slide4
Do men make oestrogen?
  • Do women make testosterone?
slide8

Adrenarche

  • Body odour
  • Greasy hair
  • Acne
  • Pubic hair

Pre-puberty

slide9

cholesterol

Adrenal

  • Adrenarche

A C

Weak

Androgen

slide10

cholesterol

Adrenal

  • Adrenarche

Weak androgens

A C

Weak

Androgen

7 year old
7 year old
  • Body odour
  • Greasy hair
  • 2 or 3 pubic hairs

Adrenal

  • Adrenarche

Body odour

Pubic Hair

slide12

What

next?

pituitary

LH, FSH

adrenal

gonad

  • Adrenarche

Body odour

Pubic Hair

Girls - Bust development

Boys - Testicular enlargement

puberty
Puberty

♀: Growth spurt 2 years before boys, at start of clinical puberty

Peak height velocity ~12 years

Followed by menarche

♂: Growth spurt when puberty already well established (testicular volume ~ 10 mls)

Peak height velocity ~14 years

2 early puberty
2. ‘Early puberty’
  • Bust development in the very young child
  • Early pubic hair
  • Precocious puberty
isolated premature thelarche
Isolated premature thelarche

Gn

Bust tissue

2 9

Age

slide19

Adrenarche

Body odour

Pubic Hair

Acne

adrenarche
Adrenarche

More pronounced or early if:

  • Obese
  • SGA
  • History of PCOS
slide21

cholesterol

  • Adrenarche
  • CAH
  • Adrenal tumour

Weak androgens

A C

Body odour

Pubic Hair

Acne

slide22

cholesterol

  • Adrenarche
  • CAH
  • Adrenal tumour

Androgens

A C

Body odour

Pubic Hair

Acne

investigations
Investigations?
  • Nothing
  • Morning 17-OHP and testosterone
obesity
Obesity
  • Promotes growth (height) in early life
  • Associated with an earlier onset of puberty

Hence the Paediatricians interest in the

short, heavy child

true precocious puberty
True precocious puberty
  • Bust development < 8 years in girls
  • Testicular enlargement < 9 years in boys
slide28

Early puberty:

Idiopathic – girls

CNS lesion – boys

LH, FSH

Bust development

Testicular enlargement

slide29

Gonadotrophin independent

Bust development

Testicular enlargement

slide32

TSH - hypothyroidism

Bust development

Testicular enlargement

case 1 jordan
Case 1: Jordan

Age 20 months

Pubic hair

‘Large testes’

Tall

Healthy non-consanguinous parents

examination
Examination

Height and weight 75th centile

Penile length +2 SD

Testicular volume 3 mls

Pubic hair stage 1

investigations35
Investigations

Time (min)LH (U/L)FSH(IU/L)

0 <1 <1

30 2.1 <1

60 1.4 <1

Urine steroid profile – normal

17 OHP – 1.3 nmol/L

Testosterone < 1nmol/l

jordan 3 2 years
Jordan 3.2 years

Increase in size of genitalia

Temper tantrums

Testes 4-5 mls

Penile length 7 cm

PH stage 2

Concerns about gait

investigations39
Investigations

Time (min)LH (U/L)FSH(IU/L)

0 2.9 2.5

30 22.8 4.4

60 19.7 4.4

Testosterone 11.2 nmol/L

MRI brain

  • No intra-cranial abnormality shown.
  • No mass lesion shown in the pituitary fossa nor in the hypo-thalamic region.
  • There is a little asymmetry in the lateral ventricles just above the foramen of Monro but there is no structural abnormality to account for this.
jordan
Jordan

Diagnosis – ‘Idiopathic’ GDPP’

Started on Leuprorelin acetate injections

jordan 6 years
Jordan – 6 years

Ongoing concerns about gait

Plan

  • Neurodevelopmental assessment
  • Repeat MRI
slide42

JH – high signal in the white matter

In keeping with perinatal ischaemic injury

precocious puberty and cns lesions
Precocious puberty and CNS lesions

Abnormal (enhanced) gonadotrophin

production can commence at a very early age

slide44

3. Delayed puberty

~ 14 years in girls

~ 15 years in boys

slide45

Delayed puberty

Scenario 1

LH, FSH

slide46

Delayed puberty

Scenario 1

LH, FSH

Causes

1. Late

2. Chronic illness

3. Endocrinopathy eg prolactinoma

tumour

Gn deficiency

slide47

Delayed puberty

Scenario 2

LH, FSH

slide48

Delayed puberty

Scenario 2

LH, FSH

  • Causes
  • Ovarian pathology
  • Abnormal karyotype
key features
Key features
  • Family history of late puberty
  • Well child – no evidence of chronic illness
  • Not dysmorphic
  • Bone age delay
slide53

CW

Testosterone

‘Hares and tortoises’

Constitutional delay of growth and puberty

pubertal growth
Pubertal growth

Males Females

~ 20 to 30 cm ~15 to 25 cm

case 2
Case 2
  • Short stature
  • Late puberty
slide57
Both parents short
  • No family history of late puberty
slide58

Examination

  • Prepubertal
  • Not dysmorphic
  • Obese
short and heavy
‘Short and heavy’
  • Simple obesity
  • PHP
  • Syndromes
  • Cushings
  • Hypothyroid
  • GHD / CPHD
slide62
Plan?
  • Thyroid function
  • IGF-I
  • 24h UFC
slide63
TSH 1.27
  • Free T4 9 (11 – 23)
  • IGF-I 10 (25 – 67)
  • 24h UFC normal
further investigations65
Further investigations
  • Pituitary function tests
diagnosis
Diagnosis
  • Isolated GH deficiency +/- gonadotrophin deficiency dating from early life?
clues
Clues?
  • Short and heavy
  • Thyroid function
summary
Summary
  • A knowledge of normal physiology valuable when faced with early/late puberty
  • Early pubic hair - ?Non-classical CAH
  • Early puberty – consider referral
  • Late puberty – well child?

- Family history?

  • Late puberty – beware short and heavy

- FSH/LH