Early and late puberty

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Early and late puberty

• Tim Cheetham
• January 2011

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1. Normal physiology
Adrenal
Gonad
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Steroid producing tissues
Adrenal glands Ovaries
Androgen
Oestrogen Androgen
Peripheral tissue
Oestrogen
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• Do men make oestrogen?
• Do women make testosterone?

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Do babies make sex steroid?
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Gn production in boys
Gn
2 9
Age
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Normal physiology

• What next?

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Adrenarche

• Body odour
• Greasy hair
• Acne
• Pubic hair

Pre-puberty
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cholesterol
Adrenal

• Adrenarche

A C
Weak Androgen
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cholesterol
Adrenal

• Adrenarche

Weak androgens
A C
Weak Androgen
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7 year old

• Body odour
• Greasy hair
• 2 or 3 pubic hairs

Adrenal

• Adrenarche

Body odour Pubic Hair
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What next?
pituitary
LH, FSH
adrenal
gonad

• Adrenarche

Body odour Pubic Hair
Girls - Bust development Boys - Testicular
enlargement
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Ovarian volume
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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
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2. Early puberty

• Bust development in the very young child
• Early pubic hair
• Precocious puberty

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Isolated premature thelarche
Gn
Bust tissue
2 9
Age
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Early pubic hair
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• Adrenarche

Body odour Pubic Hair Acne
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Adrenarche

• More pronounced or early if
• Obese
• SGA
• History of PCOS

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cholesterol

• Adrenarche
• CAH
• Adrenal tumour

Weak androgens
A C
Body odour Pubic Hair Acne
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cholesterol

• Adrenarche
• CAH
• Adrenal tumour

Androgens
A C
Body odour Pubic Hair Acne
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Investigations?

• Nothing
• Morning 17-OHP and testosterone

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Obesity

• Promotes growth (height) in early life
• Associated with an earlier onset of puberty
• Hence the Paediatricians interest in the
  
• short, heavy child

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True precocious puberty

• Bust development lt 8 years in girls
• Testicular enlargement lt 9 years in boys

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Early puberty Idiopathic girls CNS lesion
boys
LH, FSH
Bust development Testicular enlargement
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Gonadotrophin independent
Bust development Testicular enlargement
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Pseudoprecocious puberty
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TSH - hypothyroidism
Bust development Testicular enlargement
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Case 1 Jordan

• Age 20 months
• Pubic hair
• Large testes
• Tall

Healthy non-consanguinous parents
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Examination

• Height and weight 75th centile
• Penile length 2 SD
• Testicular volume 3 mls
• Pubic hair stage 1

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Investigations

• Time (min) LH (U/L) FSH(IU/L)
• 0 lt1 lt1
• 30 2.1 lt1
• 60 1.4 lt1
• Urine steroid profile normal
• 17 OHP 1.3 nmol/L
• Testosterone lt 1nmol/l

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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

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MPH
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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.

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Jordan

• Diagnosis Idiopathic GDPP
• Started on Leuprorelin acetate injections

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Jordan 6 years

• Ongoing concerns about gait
• Plan
• Neurodevelopmental assessment
• Repeat MRI

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JH high signal in the white matter In keeping
with perinatal ischaemic injury
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Precocious puberty and CNS lesions
Abnormal (enhanced) gonadotrophin production
can commence at a very early age
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3. Delayed puberty
14 years in girls 15 years in boys
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Delayed puberty
Scenario 1
LH, FSH
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Delayed puberty
Scenario 1
LH, FSH
Causes 1. Late 2. Chronic illness 3.
Endocrinopathy eg prolactinoma tumour
Gn deficiency
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Delayed puberty
Scenario 2
LH, FSH
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Delayed puberty
Scenario 2
LH, FSH

• Causes
• Ovarian pathology
• Abnormal karyotype

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Case 1
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CW
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CW
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Key features

• Family history of late puberty
• Well child no evidence of chronic illness
• Not dysmorphic
• Bone age delay

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CW
Testosterone
Hares and tortoises Constitutional delay
of growth and puberty
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Pubertal growth

• Males Females
• 20 to 30 cm 15 to 25 cm

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Case 2

• Short stature
• Late puberty

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• Both parents short
• No family history of late puberty

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Examination

• Prepubertal
• Not dysmorphic
• Obese

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Short and heavy

• Simple obesity
• PHP
• Syndromes
• Cushings
• Hypothyroid
• GHD / CPHD

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Plan?
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Plan?

• Thyroid function
• IGF-I
• 24h UFC

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• TSH 1.27
• Free T4 9 (11 23)
• IGF-I 10 (25 67)
• 24h UFC normal

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Further investigations
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Further investigations

• Pituitary function tests

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Time mins Glucose mmol/l TSH mU/l FT4 pmol/l Cortisol nmol/l GH mU/l PRL
0 3.7 1.3 9 166 0.4 314
30 6.7 231 0.2 410
60 5.1 175 0.3
90 3.6 160 1.1
120 3.2 387 0.8
150 3.6 595 0.7
180 3.7 477 1.0
210 3.8 509 1.1
240 3.9 518 1.4
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Diagnosis

• Isolated GH deficiency /- gonadotrophin
  deficiency dating from early life?

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Clues?

• Short and heavy
• Thyroid function

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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