Dilemmas in Puberty Dr. Vaman Khadilkar MD, DNB, MRCP, DCH (London) Paediatric and Adolescent Endocrinologist Ira Clinic, Pune Jehangir hospital and Bharati Vidyapeeth Medical College Pune & 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 Cerebral cortex Hypthalamic Gonadostat +ve Feedback GnRh Pit - ve Feedback LH, FSH Gonads Gonads Sex Steroids Puberty – Secular Trends The Average Age of Menarche Data From Scandinavia What Is the Mean Age of Menarche in India Now? No national Data Available 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 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 57% 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 200 180 TH 160 140 120 100 80 Bone age is 11 y 60 40 Predicted Adult Ht 143 20 0 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 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 Stretched Penile Length Norms (CM) • 15 year 1st child of Cut-off non-consanguinous age old Sanjay Mean marriage with no signs1.9 of puberty and small 0-6m brought2.9 penis 6-12m 4.1 2.1 3.6 • His 1-5y height was on5.2 3rd centile, weight on 75th centile, 5y-puberty 4 75th centile MPH 50th centile.6BMI was above • 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? 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