1. Puberty and Its Pathophysiology
Pediatrics Course 4th Year

2. Puberty is a complex developmental process culminating in sexual maturity. This transitional period begins in late childhood and is characterized by maturation of the hypothalamic-pituitary-gonadal axis, the appearance of secondary sexual characteristics, acceleration of growth, and, ultimately, the capacity for fertility.
Puberty - Definition

3. Puberty – Characteristic and Environmental Factors
Centrally driven
H-P-G axis
GH and Gonadotropins secretion
General health, nutrition, exercise
Genetic influences, race
Socio-economic conditions
Programmed from intra-uterine environment
Puberty – Characteristic and Environmental Factors

4. Hypothalamic-Pituitary-Gonadal Axis - Fetal
Hypothalamic-Pituitary-Gonadal Axis - Early Infancy
Hypothalamic-Pituitary-Gonadal Axis – Childhood
Hypothalamic-Pituitary-Gonadal Axis - Late Prepuberty
Hypothalamic-Pituitary-Gonadal Axis - Puberty

5. Puberty Contemporary Issues in Pathophysiology

6. Onset of Puberty

7. Sequence Of Normal Puberty

8. Pubertal development as precocious when it occurs before the ages of
8 years in girls and
9 years 6 months in boys
In at least 50% of cases of precocious pubertal development, pubertal manifestations will regress or stop progressing, and no treatment is necessary
Gonadotrophin-dependent (true / central)
Gonadotrophin-independent
Precoucious Puberty

9. Delayed onset of puberty is defined as occurring older than 2 SD after the average age
Girls >13.4 years old
Boys >14 years old
Constitutional delay
Commonest condition seen by paediatric endocrinologists
Positive family history
Height prognosis appropriate for parental centiles, although in severe cases upper body may remain short
Bone age is delayed & consistent with degree of pubertal maturation (usually delayed by 2 years or more)
Often associated with constitutional short stature
Progressive height gain, but along lower limits of normal (contrast to isolated gonadotropin deficiency which has normal growth, but no pubertal growth spurt)
Treatment for psychological reasons, with low dose ethinyloestradiol: onset of breast development with a growth spurt and problem usually resolves
Delayed Puberty

10. Delayed onset of puberty is defined as occurring older than 2 SD after the average age
Girls >13.4 years old
Boys >14 years old
1. General
Constitutional delay of growth and puberty
Malabsorption
Underweight
Chronic illness
2. Gonadal failure (Hypergonadotrophic hypogonadism)
Turner’s Syndrome
Post-malignancy chemo / radiotherapy / surgery
Polyglandular autoimmune syndromes
3. Gonadal deficiency
Congenital hypogonadotrophic hypogonadism
Hypothalamic/pituitary lesions
Rare gene mutations inactivating FSH/LH or their receptors
Delayed Puberty

11. Assessment of Puberty History Review of Systems Examination of Growth
Pubertal Assessment (Tanner staging)
Neurological assessment
Assessment of Puberty

12. Assessment of Puberty Review of Systems
Examination of Growth - Role of bone age
Female skeletal maturity is generally 2 years advanced as compared to males
Pubertal events more correlated with bone age than chronological age
Pubertal Assessment (Tanner staging)
Axillary hair
Pubic hair & staging
Breast development & staging
Genital development & staging
Neurological assessment
Assessment of Puberty