Dilemmas in Puberty

Dr. Vaman Khadilkar MD, DNB, MRCP, DCH (London)

Paediatric and Adolescent EndocrinologistIra Clinic, Pune

Jehangir hospital and Bharati Vidyapeeth Medical CollegePune

&Bombay Hospital, Mumbai

Dr. Vaman Khadilkar MD, DNB, MRCP, DCH (London)

Pediatric & Adolescent Endocrinologist • President – Indian Society for Pediatric & Adolescent Endocrinology

2013-14• Consultant Pediatric Endocrinologist, Jehangir Hospital, Pune and

Bombay Hospital, Mumbai• Associate Professor, Pediatric Endocrinology, Bharati Vidyapeeth

Medical College, Pune• DNB & MD teacher• PhD (Doctorate) guide University of Pune• Trained at Great Ormond Street Hospital, London• Referee for Journal of Pediatric Endocrinology and Metabolism,

London and Indian Pediatrics Journal• More than 75 Indexed publications in Pediatric Endocrinology and

more than 300 Presentations in State, National and International conferences

Neuro - Endocrine Changes Of Puberty

Gonads

Cerebral cortex

Hypthalamic Gonadostat

Pit

GnRh

Gonads

LH, FSH

Sex Steroids

- ve Feedback

+ve Feedback

Puberty – Secular Trends

The Average Age of MenarcheData From Scandinavia

What Is the Mean Age of Menarche in India Now?

Study Urban Rural

Dudhe J Y et al (Central India) 2012 13.5 13.6

Deb R (Meghalaya) 2011 12.1 13.2

Rao S (Maharashtra) 1998 12.1 15.4

No national Data Available

What Is Precocious Puberty?

• Premature sexual maturation before the normal age of onset of puberty

• Dilemma - What is normal and should the age cut off be changed from 8 to 7 or 6 in girls?

What Is Normal Timing of Puberty?

• Appearance of secondary sexual characters after the age of 8 years in girls and 9 years in boys is considered normal at present

• In United States of America especially in black girls it is seen that signs of secondary sexual characters appear before 8 years in 5-7% of the population

What Is Normal Timing of Puberty?

• Early thelarche is noted in many parts of the world • The time interval between thelarche is menarche

has become longer• Thus the timing of onset is early but tempo may be

variable and hence observation of the tempo of puberty is essential

• There is no such evidence in boys – timing of attainment of testicular volume of 4 ml almost remains constant

What Is Normal Timing of Puberty?

• Studies show that for girls between the age of 6 and 8 who had signs of precocity, incidence of

neurological disease is not uncommon• It is therefore important to retain the previous

cut-off limits of 8 for girls and 9 for boys at least for the present time

Dilemma - Why Should I Treat Precocity

&Do I need to treat every

precocious puberty ?

What Are The Reasons To Treat Precocious Puberty?

• Final height Reduction - Stunting• Psychosocial problems in coping with the

changing body image, social interactions and Menarche

Growth Chart of a Girl With Precocious Puberty

0

20

40

60

80

100

120

140

160

180

200

0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18

TH

Bone age is 11 y

Predicted Adult Ht 143

Who Needs Treatment?

• Precocious physical signs of puberty – RAPIDLY ADVANCING

• Significantly advanced BA• Decreased predicted adult height• Pubertal response to GnRh testing

The definition of each of these variable is subjective and NOT absolute

Precocious Puberty – Who Don’t Need Treatment

• Girls with slow progressive variety do not need treatment

• Generally if the bone age advancement is less than 2 years – Does not need treatment

• If two height predictions at least 6 months apart do not show progressive reduction in the predicted adult height – No treatment

Equivocal Cases - Treat or Not?

• Equivocal Cases– CA between 6–8 yr– BA not as advanced– Predicted height still close to MPH– GnRH testing unclear

Equivocal Cases – Treat or Not?

• Adequate follow-up – Rate of progression of physical changes– Linear growth– Bone maturation– Estimates of adult height– Stimulated gonadotropin levels

Dilemma 2 – Delayed Puberty How long can I wait and watch?

Delayed Puberty Case 1

• 15 year old Sanjay 1st child of non-consanguinous marriage brought with no signs of puberty and small penis

• His height was on 3rd centile, weight on 75th centile, MPH 50th centile. BMI was above 75th centile

• Tanner: pubic hair stage 2, axillary hair stage 1, genital stage 1, buried penis spl 4 cm, testes 4 ml

• Some gynecomastia/ lipomastia • Am I dealing with CDGP or hypogonadism?

Stretched Penile Length Norms (CM)age Mean Cut-off0-6m 2.9 1.96-12m 4.1 2.11-5y 5.2 3.65y-puberty 6 4

Delayed Puberty Case 1• Points in favor of delayed puberty (CDGP)

– Short stature– Some signs of puberty (pubic hair)

• Points in favor of hypogonadism– Relatively small size of penis– Small testicular size for age– Gynecomastia

• How should I proceed?– Bone age – HCG stimulation test– GnRha stimulation test

Delayed Puberty – Case 1– Bone age

• 12.2 years (delayed)– HCG stimulation test

• Good testosterone rise – In favor of delayed puberty– GnRha stimulation test

• Lh rises to above 5 iu/ml

– Diagnosis – Constitutional Delay in Growth and Puberty

Stretched Penile Length

Prader Orchidometer

Delayed Puberty Case 2

• 16 year old girl living in Pune city from middle class family

• Mother worried about no breast development or any other signs of puberty

• Anthropometry:– Height 95th centile Target height 25th centile– Weight 50th centile

• Tanner: A1p1b4b4• Dilemma – should I wait or investigate?

Delayed Puberty – Case 2

• Points in favor of just delayed puberty– Breast development ++

• Points against– Too tall– Well nourished so why late puberty?– Discordance between breast development and

hair growth• What should I do?

Delayed Puberty – Case 2

• Bone age – 14 years

• Pelvic ultrasound– No uterus, bilateral solid gonads, like testes

• Lh, Fsh, Estradiol, Testosterone– Lh, fsh very high, testo – male range, e2= 20

pg/ml• Karyotype XY normal male

Case 3

• 13 year old boy complains of bilateral breast enlargement of 6 months duration

• On examination– Bilateral breast development tender 6 cms– Testes 8 ml, axillary and pubic hair stage 2– Height 85th centile, weight > 90th centile (MPH

50th centile)– BMI above 85th centile

• Dilemma - Should I wait or investigate?

Case 3

• Decided to wait for 3 months – reassured• 3 months later breasts bigger, no progress in

puberty.• Investigated

– LH 35 miu/ml, fsh 20 miu/ml (both high), – Prolactin, TFTs normal– Testosterone 30ng/ml normal

• Karyotype – 46 XXY

Case 4

• 15 year old girl complaints– Facial, chin, upper lip hair growth 6 months– Irregular menses

• On examination– Hirsutism - FG score 16– Clitorial hypertrophy

• Dilemma – Is this PCOS or is this CAH?

Case 4

• Investigations– 17 ohp 3 ng/dl (not very high)– Testosterone 120 ng/ml (high for female)– LH 15, FSH 5 ( reversed ratio)– PCOS on usg– Synacthen test – more than 5 folds rise in

17ohp and 2 times in cortisol• Diagnosis - Non classical CAH

Conclusions

• Secular trend is towards early sexual maturation all over the world and is particularly marked in areas of the world that are in rapid economic transition such as India

• In equivocal cases longer follow-up to understand the tempo is essential

Conclusions Contd….

• Although there is a trend towards younger age of maturity the traditional age cut-offs of 8 years for girls and 9 years for boys for the beginning of puberty still STAY

• Main reasons to treat precocity in children are prevention of short stature and psychological disturbances

Conclusions Contd….

• Anthopometry often gives a clue about whom to investigate, treat and whom not to

• Heterosexual precocity must always be investigated

• With delayed puberty – Discordance in clinical signs and anthropometry points towards a non physiological cause

Thank You !

vamankhadilkar@gmail.com