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Puberty
Normal and Abnormal
Abdelrahman Al-daqqa
Puberty
 Physiological transition from childhood to
reproductive maturity
 Associated with:
 Growth spurt
 Appearance of both primary and secondary sexual
characteristics in children
 Occurs between 8 and 14yrs in girls
 Occurs between 9 and 14yrs in boys
Influencing Factors
 Genetics: 50-80% of variation in pubertal timing ( as race )
 Environmental factors e.g. nutritional status ( obesse are
more likely to be earlier )
 Excessive exercise
 Psychological factors .
Normal Puberty: Endocrine control
 Befor birth
 Neoborn
 Until 3 months of age > decline
 Childhood
Suppression “CNS inhibition of hypothalamus “
“ feedback of low estradiol due to high sensetivity ”
 Leptin → regulates appetite and metabolism through
hypothalmus. Permissive role in regulation of timing of
puberty
Normal Puberty: Endocrine control
 Onset of puberty signalled by the secretion of pulses of Gonadotrophin
Releasing Hormone (GnRH)
 Prior to puberty: hormonal feedback / central neural suppression of
GnRH release suppress onset of puberty
 Hypothalamo-pituitary-gonadal axis starts working in foetus. After
birth, sex hormones and gonadotrophins (FSH, LH) found in adult
levels
 Levels reduce in months after birth; pulsatile GnRH reduces in
childhood and increases in frequency and amplitude before puberty
 For 2 yrs before puberty, rise in adrenal androgens early pubic hair
and spots
Physiology of Puberty
 Activation of the hypothalamic – pituitary –
gonadal axis
 Induces and enhances progressive ovarian and
testicular sex hormone secretion
 Responsible for the profound biological,
morphological and psychological changes which
adolescents experience
Late Prepubertal period
 Btw age 8-11
 Adrenal cortex secrete DHEA , DHWA-S and
Androstenedione .
 These Androgens resulting in Adrenarche (
Pubarche )
 ↑ GnrH > promote ovarian follicle maturation and
sex steroid production .
 Resulting in development of Secondary sexual
features
Physical Changes
 5 stages from childhood to full maturity
 Marshall and Tanner (P1 – P5)
 Reflect progression in changes of the external
genitalia and of sexual hair
 Secondary sexual characteristics
 Mean age 10.5yrs in girls
 Mean age 11.5 – 12yrs in boys
Puberty: Girls
 Thelarche (Breast budging ) usually first sign.
 Often unilateral
 Menarche usually 2-3 yrs after breast development
 Growth spurt peaks before menarche
 Pubic and axillary hair growth: sign of adrenal androgen
secretion
 Starts at similar stage of apocrine gland sweat production
and associated with adult body odour
Pubertal Stages (Tanner)
Female
 P1 Prepubertal
 P2 Early development of subareolar breast bud
+/- small amounts of pubic and axillary hair
 P3 Increase in size of palpable breast tissue and areolae, increased
dark curled pubic/axillary hair
 P4 Breast tissue and areolae protrude above breast level. Adult
pubic hair but no spread to medial thighs.
 P5 Mature adult breast. Pubic hair extends to upper thigh
Menarche
 Mean age in USA is 12.4 years .
 During puberty oestradiol levels fluctuate widely
(reflecting successive waves of follicular development that
fail to reach ovulatory stage)
 Endometrium affected by oestradiol. Undergoes cycles of
proliferation and regression until point where withdrawal
of oestrogen results in the first menstrual bleed (menarche)
Ovarian development
 Rising levels of plasma gonadotrophins
 Stimulate ovary to produce increasing amounts of
oestradiol
 Oestradiol ► secondary sex characteristics
 Breast growth and development
 Reproductive organ growth and development
 Fat redistribution (hips,breasts)
 Bone Maturation
Ovulation
 First ovulation occurs 6 – 9 mths after menarche
 Plasma progesterone remains at low levels even if
secondary sexual characteristics have appeared
 Rising progesterone after usually ► ovulation
 Plasma testosterone rise during puberty (not as
much as in male)
Development of Uterus
 Prepubertal uterus is tear-drop shaped
 Neck and isthmus account for up to 66% of
uterine volume
 Following production of oestrogens – uterus
becomes pear shaped
 Uterine body increases in length (max 5 – 8cm)
and thickness (proportionately more than cervix)
Assessment of abnormal puberty
 Many causes
 Aim of assessment: determine whether underlying
pathological abnormality vs constitutional and
benign pubertal changes
What is abnormal?
 Delayed Puberty
 Early or Precocious Puberty
 More common in females( 5 times )
 1 in 10,000 children
 Uncommon in males (usually pathological)
 < 8yrs in females
 < 9yrs in males
 May be associated with a growth spurt
Assessment 1
 Full history of previous growth and development
 Record timing and sequence of physical
milestones and behavioural changes of puberty
 Full medical and surgical history
 If underweight: take full nutritional history
 Family hx of early or delayed puberty
 Family hx of any genetic disease
Assessment 2
 Plot height, weight, BMI and growth velocity
 Compare with old measurements if available
 Examine all systems: endocrine / neurology
 Genitalia, body habitus, stage of puberty
Delayed Puberty:
Hypogonadotrophic
 Constitutional (familial, sporadic)
 Chronic illness (CF, Crohns Disease, Renal failure)
 Malnutrition (Anorexia, CF, coeliac disease)
 Exercise
 Tumours of pituitary/hypothalamus (craniopharyngioma)
 Hypothalamic syndromes (PWS, Laurence-Moon-Biedl)
 Hypothyroidism
 Suppression 20 to hyperthyroidism, hyperprolactinemia,
Cushing Syndrome.
 hypopituitarism
Delayed Puberty:
Hypergonadotrophic
 Congenital
 Turner Syndrome
 Klinefelters Syndrome
 Acquired
 Irradiation / Chemotherapy
 Surgery
 Testicular torsion, trauma
 Infection
 Autoimmunity
Precocious Puberty
 Onset of secondary sexual characteristics < 8yrs in
girls and < 9yrs in boys
 5 times more common in girls
 Usually benign central process – girls
 Pathological in ~ 50% in boys
Premature thelarche / pubarche
 Thelarche – beginning of breast development
 Pubarche – first appearance of pubic hair
 (more common in certain populations e.g asian / afro-caribbean )
 More common than true precocious puberty
 Benign variants
 breast development in girls < 3yrs with spontaneous regression
 Pubic hair in boys and girls < 7yrs due to adrenal androgen
secretion in middle childhood
Investigations
 Blood Tests (first line)
 CBC
 FSH/LH
 Oest/Testosterone
 Adrenal androgens
 Prolactin
 Second line
 GnRH assay
 Beta –HCG
 Karyotype if indicated
Diagnostic Imaging
 Pelvic USS (ovarian tumours / cysts)
 Testicular USS (tumour)
 Adrenal USS (MRI / CT better if tumour
considered)
 Bone Age (if within 1yr of CA, puberty not started
or only just started; if > 2yrs, puberty already
started)
 Brain MRI in all males and patients with
neurological signs or symptoms)
Management
 Treat systemic disease
 Psychological support
 Promote puberty / growth if necessary
 Low dose testosterone
 Ethinyloestradiol
Issues
 Treatment of the cause e.g. cranial neoplasm
 Behavioural difficulties – psychology
 Reduce rate of skeletal maturation (early growth
spurt may result in early epiphyseal closure and
reduced final adult height)
 Halt or slow puberty (GnRH analogue)
 Inhibit action of excess sex steroids
Thank You

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puberty - hormonal and physiological changes

  • 2. Puberty  Physiological transition from childhood to reproductive maturity  Associated with:  Growth spurt  Appearance of both primary and secondary sexual characteristics in children  Occurs between 8 and 14yrs in girls  Occurs between 9 and 14yrs in boys
  • 3. Influencing Factors  Genetics: 50-80% of variation in pubertal timing ( as race )  Environmental factors e.g. nutritional status ( obesse are more likely to be earlier )  Excessive exercise  Psychological factors .
  • 4. Normal Puberty: Endocrine control  Befor birth  Neoborn  Until 3 months of age > decline  Childhood Suppression “CNS inhibition of hypothalamus “ “ feedback of low estradiol due to high sensetivity ”  Leptin → regulates appetite and metabolism through hypothalmus. Permissive role in regulation of timing of puberty
  • 5. Normal Puberty: Endocrine control  Onset of puberty signalled by the secretion of pulses of Gonadotrophin Releasing Hormone (GnRH)  Prior to puberty: hormonal feedback / central neural suppression of GnRH release suppress onset of puberty  Hypothalamo-pituitary-gonadal axis starts working in foetus. After birth, sex hormones and gonadotrophins (FSH, LH) found in adult levels  Levels reduce in months after birth; pulsatile GnRH reduces in childhood and increases in frequency and amplitude before puberty  For 2 yrs before puberty, rise in adrenal androgens early pubic hair and spots
  • 6.
  • 7. Physiology of Puberty  Activation of the hypothalamic – pituitary – gonadal axis  Induces and enhances progressive ovarian and testicular sex hormone secretion  Responsible for the profound biological, morphological and psychological changes which adolescents experience
  • 8. Late Prepubertal period  Btw age 8-11  Adrenal cortex secrete DHEA , DHWA-S and Androstenedione .  These Androgens resulting in Adrenarche ( Pubarche )
  • 9.  ↑ GnrH > promote ovarian follicle maturation and sex steroid production .  Resulting in development of Secondary sexual features
  • 10. Physical Changes  5 stages from childhood to full maturity  Marshall and Tanner (P1 – P5)  Reflect progression in changes of the external genitalia and of sexual hair  Secondary sexual characteristics  Mean age 10.5yrs in girls  Mean age 11.5 – 12yrs in boys
  • 11. Puberty: Girls  Thelarche (Breast budging ) usually first sign.  Often unilateral  Menarche usually 2-3 yrs after breast development  Growth spurt peaks before menarche  Pubic and axillary hair growth: sign of adrenal androgen secretion  Starts at similar stage of apocrine gland sweat production and associated with adult body odour
  • 12. Pubertal Stages (Tanner) Female  P1 Prepubertal  P2 Early development of subareolar breast bud +/- small amounts of pubic and axillary hair  P3 Increase in size of palpable breast tissue and areolae, increased dark curled pubic/axillary hair  P4 Breast tissue and areolae protrude above breast level. Adult pubic hair but no spread to medial thighs.  P5 Mature adult breast. Pubic hair extends to upper thigh
  • 13.
  • 14. Menarche  Mean age in USA is 12.4 years .  During puberty oestradiol levels fluctuate widely (reflecting successive waves of follicular development that fail to reach ovulatory stage)  Endometrium affected by oestradiol. Undergoes cycles of proliferation and regression until point where withdrawal of oestrogen results in the first menstrual bleed (menarche)
  • 15. Ovarian development  Rising levels of plasma gonadotrophins  Stimulate ovary to produce increasing amounts of oestradiol  Oestradiol ► secondary sex characteristics  Breast growth and development  Reproductive organ growth and development  Fat redistribution (hips,breasts)  Bone Maturation
  • 16. Ovulation  First ovulation occurs 6 – 9 mths after menarche  Plasma progesterone remains at low levels even if secondary sexual characteristics have appeared  Rising progesterone after usually ► ovulation  Plasma testosterone rise during puberty (not as much as in male)
  • 17. Development of Uterus  Prepubertal uterus is tear-drop shaped  Neck and isthmus account for up to 66% of uterine volume  Following production of oestrogens – uterus becomes pear shaped  Uterine body increases in length (max 5 – 8cm) and thickness (proportionately more than cervix)
  • 18.
  • 19. Assessment of abnormal puberty  Many causes  Aim of assessment: determine whether underlying pathological abnormality vs constitutional and benign pubertal changes
  • 20. What is abnormal?  Delayed Puberty  Early or Precocious Puberty  More common in females( 5 times )  1 in 10,000 children  Uncommon in males (usually pathological)  < 8yrs in females  < 9yrs in males  May be associated with a growth spurt
  • 21. Assessment 1  Full history of previous growth and development  Record timing and sequence of physical milestones and behavioural changes of puberty  Full medical and surgical history  If underweight: take full nutritional history  Family hx of early or delayed puberty  Family hx of any genetic disease
  • 22. Assessment 2  Plot height, weight, BMI and growth velocity  Compare with old measurements if available  Examine all systems: endocrine / neurology  Genitalia, body habitus, stage of puberty
  • 23. Delayed Puberty: Hypogonadotrophic  Constitutional (familial, sporadic)  Chronic illness (CF, Crohns Disease, Renal failure)  Malnutrition (Anorexia, CF, coeliac disease)  Exercise  Tumours of pituitary/hypothalamus (craniopharyngioma)  Hypothalamic syndromes (PWS, Laurence-Moon-Biedl)  Hypothyroidism  Suppression 20 to hyperthyroidism, hyperprolactinemia, Cushing Syndrome.  hypopituitarism
  • 24. Delayed Puberty: Hypergonadotrophic  Congenital  Turner Syndrome  Klinefelters Syndrome  Acquired  Irradiation / Chemotherapy  Surgery  Testicular torsion, trauma  Infection  Autoimmunity
  • 25. Precocious Puberty  Onset of secondary sexual characteristics < 8yrs in girls and < 9yrs in boys  5 times more common in girls  Usually benign central process – girls  Pathological in ~ 50% in boys
  • 26. Premature thelarche / pubarche  Thelarche – beginning of breast development  Pubarche – first appearance of pubic hair  (more common in certain populations e.g asian / afro-caribbean )  More common than true precocious puberty  Benign variants  breast development in girls < 3yrs with spontaneous regression  Pubic hair in boys and girls < 7yrs due to adrenal androgen secretion in middle childhood
  • 27. Investigations  Blood Tests (first line)  CBC  FSH/LH  Oest/Testosterone  Adrenal androgens  Prolactin  Second line  GnRH assay  Beta –HCG  Karyotype if indicated
  • 28. Diagnostic Imaging  Pelvic USS (ovarian tumours / cysts)  Testicular USS (tumour)  Adrenal USS (MRI / CT better if tumour considered)  Bone Age (if within 1yr of CA, puberty not started or only just started; if > 2yrs, puberty already started)  Brain MRI in all males and patients with neurological signs or symptoms)
  • 29. Management  Treat systemic disease  Psychological support  Promote puberty / growth if necessary  Low dose testosterone  Ethinyloestradiol
  • 30. Issues  Treatment of the cause e.g. cranial neoplasm  Behavioural difficulties – psychology  Reduce rate of skeletal maturation (early growth spurt may result in early epiphyseal closure and reduced final adult height)  Halt or slow puberty (GnRH analogue)  Inhibit action of excess sex steroids