Early and late puberty

1. Early and late puberty Tim Cheetham January 2011

2. 1. Normal physiology Adrenal Gonad

3. Steroid producing tissues Adrenal glands Ovaries Androgen Oestrogen Androgen Peripheral tissue Oestrogen

4. Do men make oestrogen? • Do women make testosterone?

5. Do babies make sex steroid?

6. Gn production in boys Gn 2 9 Age

7. Normal physiology What next?

8. Adrenarche • Body odour • Greasy hair • Acne • Pubic hair Pre-puberty

9. cholesterol Adrenal • Adrenarche A C Weak Androgen

10. cholesterol Adrenal • Adrenarche Weak androgens A C Weak Androgen

11. 7 year old • Body odour • Greasy hair • 2 or 3 pubic hairs Adrenal • Adrenarche Body odour Pubic Hair

12. What next? pituitary LH, FSH adrenal gonad • Adrenarche Body odour Pubic Hair Girls - Bust development Boys - Testicular enlargement

14. Ovarian volume

15. 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

16. 2. ‘Early puberty’ • Bust development in the very young child • Early pubic hair • Precocious puberty

17. Isolated premature thelarche Gn Bust tissue 2 9 Age

18. Early pubic hair

19. Adrenarche Body odour Pubic Hair Acne

20. Adrenarche More pronounced or early if: • Obese • SGA • History of PCOS

21. cholesterol • Adrenarche • CAH • Adrenal tumour Weak androgens A C Body odour Pubic Hair Acne

22. cholesterol • Adrenarche • CAH • Adrenal tumour Androgens A C Body odour Pubic Hair Acne

23. Investigations? • Nothing • Morning 17-OHP and testosterone

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

27. True precocious puberty • Bust development < 8 years in girls • Testicular enlargement < 9 years in boys

28. Early puberty: Idiopathic – girls CNS lesion – boys LH, FSH Bust development Testicular enlargement

29. Gonadotrophin independent Bust development Testicular enlargement

30. ‘Pseudoprecocious puberty’

32. TSH - hypothyroidism Bust development Testicular enlargement

33. Case 1: Jordan Age 20 months Pubic hair ‘Large testes’ Tall Healthy non-consanguinous parents

34. Examination Height and weight 75th centile Penile length +2 SD Testicular volume 3 mls Pubic hair stage 1

35. 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

36. 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

37. MPH

39. 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.

40. Jordan Diagnosis – ‘Idiopathic’ GDPP’ Started on Leuprorelin acetate injections

41. Jordan – 6 years Ongoing concerns about gait Plan • Neurodevelopmental assessment • Repeat MRI

42. JH – high signal in the white matter In keeping with perinatal ischaemic injury

43. Precocious puberty and CNS lesions Abnormal (enhanced) gonadotrophin production can commence at a very early age

44. 3. Delayed puberty ~ 14 years in girls ~ 15 years in boys

45. Delayed puberty Scenario 1 LH, FSH

46. Delayed puberty Scenario 1 LH, FSH Causes 1. Late 2. Chronic illness 3. Endocrinopathy eg prolactinoma tumour Gn deficiency

47. Delayed puberty Scenario 2 LH, FSH

48. Delayed puberty Scenario 2 LH, FSH • Causes • Ovarian pathology • Abnormal karyotype

49. Case 1

50. CW