1. PUBERTAL DEVELOPMENT
Dr Assunta Albanese
St George’s Hospital
London

2. FERTILITY AND FINAL HEIGHT
PUBERTY
Gonadal maturation with acquisition of secondary sexual characteristics and associated growth spurt
FERTILITY AND FINAL HEIGHT

3. PUBERTY Average age of onset: First signs of pubertal maturation:
11.4 years in girls
12.0 years in boys
First signs of pubertal maturation:
breast budding in girls
increase in testicular volume in boys

4. TANNER’S STAGING OF PUBERTY IN GIRLS

6. OVARIAN REGULATION Inhibin Oestrogen Hypothalamus GnRH release
Pituitary gland
FSH LH
Ovary
Inhibin
Oestrogen

7. Breast development Libido Body composition Bone mineralization
Oestrogens produced by ovaries induce/ maintain secondary sexual characteristics and sustain germ cell production
Breast development
Libido
Body composition
Bone mineralization

8. ASSESSMENT OF OVARIAN FUNCTION
Pubertal staging
Hormone levels (LH, FSH, Oestradiol, Inhibin B, progesterone)
Pelvic USS

9. LH, FSH and E2 and PUBERTAL STAGE in GIRLS

10. Patterns of LH secretion during pubertal development

11. DIAGNOSTIC VALUE OF PELVIC USS
Depend on experience of examiner!
Size and shape of uterus and ovarian volume and appearance are a indicator of the degree of pubertal development

12. EVALUATION OF OVARIES AT USS
Shape is oval. If smaller than 1 ml  prepubertal. In young adult  ~6.5 ml
Ovarian follicles can be detected from any age of early infancy onward
Follicles increase progressively in size and number after 8.5 yrs.
3-4 small cysts (~ diameter 5 mm) normal at any age

13. EVALUATION OF UTERUS AT USS
Shape depends on the age of child:
During neonatal period and infancy  drop shaped
By 8 yrs  tubular form
During puberty  pear shape
Cervix to corpus ratio:
2:1 pre-puberty
1:2 post-puberty
Angle between corpus and cervix only seen after puberty
Endometrium thickness not seen in prepuberty

14. TANNER’S STAGING OF PUBERTY IN BOYS

16. TESTICULAR REGULATION
Hypothalamus
GnRH release
Pituitary gland
FSH LH
Testis
Inhibin
Testosterone
(From the Sertoli cells)
(From the Leyding cells)

17. Testosterone produced by Leyding cells induces/ maintains secondary sexual characteristics and sustain germ cell production
Virilization of external genitalia
Phallus growth
Pubic, axillary, facial hair
Libido
Erections/ejaculate
Voice change
Body composition
Bone mineralization

18. ASSESSMENT OF TESTICULAR FUNCTION
Pubertal staging
Hormone levels (LH, FSH, testosterone, Inhibin B)
Sperm count and analysis

19. LH, FSH and E2 and PUBERTAL STAGE in BOYS

20. "CONSONANCE" OF PUBERTY
Close relationship between secondary sexual characteristics and pubertal growth spurt
In girls the pubertal growth spurt occurs early in puberty, (B2-3)
In boys the pubertal growth spurt occurs late in puberty, (G3-4, 10 ml testicular volume)

24. DELAYED PUBERTY Onset of puberty after: 13.4 yrs in girls
13.8 yrs in boys

25. CONCERNS RAISED BY DELAYED PUBERTY
Possibly sinister underlying cause
Fear that puberty will never occur
Emotional and psychosocial upset of immaturity, specially when associated with short stature
Long term sequelae: ? Reduced bone mineralization

26. CLASSIFICATION OF DELAYED SEXUAL MATURATION
CDGP
Secondary delay:
Chronic systemic illness
Steroid treatment
Psychosocial growth disturbance
Anorexia

27. Hypogonadotrophic hypogonadism
Isolated gonadotrophin deficiency
Multiple pituitary hormone deficiency
Secondary to CNS tumours or cranial irradiation
Hypergonadotrophic hypogonadism
Klinefelter’s and Turner’s Syndromes
Primary or secondary gonadal failure
Dysmorphic syndromes
Noonan’s syndrome, Prader-Willi, etc

28. DELAYED PUBERTY
Absence of a clear pattern of pulsatile gonadotrophin secretion
Pre-pubertal LH and FSH levels
Development of secondary sexual characteristics
Normal "Consonance"
Bone age delay
Final height is not impaired except if severe degree of delay

29. CONCLUSION
A good understanding of normal puberty is necessary to fully assess disorders of growth and puberty
The commonest disorders of precocious/delayed puberty are idiopathic
Psychological disturbances is the commonest indication for intervention

30. Precocious Puberty Early Puberty Onset of puberty before:
8 yrs in girls
9 yrs in boys
Early Puberty
Onset of puberty between:
8 - 9 yrs in girls
yrs in boys

31. CLASSIFICATION OF PRECOCIOUS SEXUAL MATURATION
Gonadotrophin-Dependent (True precocious puberty)
Gonadotrophin-Independent (Pseudo precocious puberty)
Variants of Precocious Sexual Maturation

32. GONADOTROPHIN-DEPENDENT
Central precocious puberty
Idiopathic
Secondary to CNS abnormalities
Congenital anomalies (hydrocephalus)
Tumours
Acquired (infections, surgery, irradiation)
Primary hypothyroidism

33. CENTRAL PRECOCIOUS PUBERTY
SEXUAL DIMORPHISM
Usually idiopathic in girls (90% or more)
Almost always secondary to lesions in CNS in boys

34. GONADOTROPHIN-DEPENDENT
Pulsatile gonadotrophin secretion, especially overnight
LH : FSH ratio > 1
Gonadal activation with sex steroid production
Development of secondary sexual characteristics
Normal "Consonance"
Bone age acceleration
Final height impairment

35. GONADOTROPHIN-INDEPENDENT
Adrenal disorders
Tumours secreting sex steroids
Congenital adrenal hyperplasia
Gonadal disorders
Ovarian cyst/tumours secreting sex steroids
Leydig cell tumour
Exogenous sex steroids
McCune-Albright Syndrome
Testotoxicosis

36. GONADOTROPHIN-INDEPENDENT
Sex steroid production from gonads or adrenal gland or exogenous source
Suppressed LH and FSH levels
Secondary sexual characteristics or virilization
Growth acceleration
Bone age acceleration with final height impairment

37. McCune - Albright Syndrome
Fibrous dysplasia of skull and long bone
"Cafe-au lait" patches with serrated edges
Autonomous endocrine overactivity :
Precocious puberty
Hyperthyroidism
Hypercortisolism
Pituitary adenomas secreting GH/ PRL
Hyperparathyroidism

38. McCune - Albright Syndrome
Precious puberty mainly described in girls
First phase: intermittent periods of breast development and vaginal bleeding (gonadotrophin independent)
Second phase: Central precocious puberty (gonadotrophin dependent)

39. McCune - Albright Syndrome
Gene mutation for the a-subunit of the G protein, which stimulate cAMP formation
Activation of receptors that operate with a cAMP-dependent mechanism
The somatic mutation occurs early in embriogenesis

40. TESTOTOXICOSIS Occurs in boys, familiar, Autosomic Dominant
Normal "Consonance"
Extreme degree of virilization compared to the testicular enlargement
Prepubertal values of FSH and LH
Failure to respond to GnRH analogue treatment
Due to a mutation of LH receptor with constant activation of the G protein even without ligand

41. VARIANTS OF PRECOCIOUS SEXUAL MATURATION
Isolated premature thelarche
Isolated menarche
Premature adrenarche
Unclassified forms

42. ISOLATED PREMATURE THELARCHE
Isolated cyclic breast enlargement, usually < 2 yrs old
Absence of other signs of puberty
Absence of behavioural problems
Normal growth and bone maturation
Predominant FSH pulsatility
Development of follicular ovarian cysts

44. PREMATURE PUBARCHE Usually begins at around 6-8 years of age
Early appearance of pubic hair, with or without axillary hair
Puberty usually occurs at a normal time
Slight growth spurt and advance in bone maturation
Final height prognosis is not compromised

45. PREMATURE PUBARCHE
Increased adrenal production of sex hormones
Gonadotrophin secretion is prepubertal
Clitoral virilization in girls and phallic enlargement in boys together with excessive bone age maturation should suggest excessive production of sex hormones due to CAH or an adrenal tumour

46. DELAYED PUBERTY Onset of puberty after: 13.4 yrs in girls
13.8 yrs in boys

47. CONCERNS RAISED BY DELAYED PUBERTY
Possibly sinister underlying cause
Fear that puberty will never occur
Emotional and psychosocial upset of immaturity, specially when associated with short stature
Long term sequelae: ? Reduced bone mineralization

48. CLASSIFICATION OF DELAYED SEXUAL MATURATION
CDGP
Secondary delay:
Chronic systemic illness
Steroid treatment
Psychosocial growth disturbance
Anorexia

49. Hypogonadotrophic hypogonadism
Isolated gonadotrophin deficiency
Multiple pituitary hormone deficiency
Secondary to CNS tumours or cranial irradiation
Hypergonadotrophic hypogonadism
Klinefelter’s and Turner’s Syndromes
Primary or secondary gonadal failure
Dysmorphic syndromes
Noonan’s syndrome, Prader-Willi, etc

50. DELAYED PUBERTY
Absence of a clear pattern of pulsatile gonadotrophin secretion
Pre-pubertal LH and FSH levels
Development of secondary sexual characteristics
Normal "Consonance"
Bone age delay
Final height is not impaired except if severe degree of delay

51. CONCLUSION
A good understanding of normal puberty is necessary to fully assess disorders of growth and puberty
The commonest disorders of precocious/delayed puberty are idiopathic
Psychological disturbances is the commonest indication for intervention