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Disorder of Puberty
(Precocious & Delayed
Puberty)
Competencies-based curricullum
4th semester 7th block
Disorder ofPuberty
(Precocious & Delayed Puberty)
Competencies-Based
Curricullum
4th Semester 7th Block
Whatis puberty?
• biological changes and sexual maturation
that occur during the transition from
childhood to adulthood
• Average age of onset:
–10 (range 8-13) years in Girls
–12 (range 10-15) years in Boys
Importanti
t
e
m
sint
h
ep
u
b
e
r
t
ye
v
a
l
u
a
t
i
o
n
History :
- Growth record
- Family history of growth disorders and
ages of maturation
- Review of systems, and
- Nutritional history.
Neinstein L.S. Adolescent Health Care:
A Practical Guide, 2002
Neinstein LS and Kaufman
FR: Abnormal Growth and
Development, 2002.
Physical examination
Should include a complete examination but particularly
focus on:
- Nutritional status
- Body measurements
- Sexual maturity rating
- Thyroid exam
- Cardiac exam (for congenital heart disease)
- Chest exam (for chronic pulmonary disease)
- Abdominal exam (hepatosplenomegaly as sign of
chronic system disease)
- External vaginal examination (evaluate for presence of
uterus and ovaries)
- Neurologic exam (for intracranial pathology)
Basic Laboratory
tests
- Complete blood count (anemia)
- Urinalysis (chronic renal disease)
- Sedimentation rate (screen for chronic
systemic disease)
- Chemistry panel including glucose,
creatinine, calcium
phosphorus, albumin, protein and liver
enzymes
- A bone age is an essential part of the
evaluation for delayed puberty.
- TSH: A screen for thyroid dysfunction
• For specific diagnostic assessments &
therapeutic management needs appropriate
other health professionals (Endocrinologist,
Gynaecologist)
• Health care provider must be prepared to
help the adolescent with long term follow-
up & psychological support including
- Identification of the problem,
- Growth and sexual maturation,
- Sexual identity and
- Reproductive potential.
PRECOCIOUS PUBERTY
Precocious onset of puberty is defined as
occurring younger than 2 SD before the
average age
 Girls <8 years old :
Develops breast & pubic hair before 8
years old
 Boys <9 years old:
Has an increase in testicle size & penis
length before 9 years of age
CausaofPrecocious Puberty
1. Gonadotrophin-dependent (true / central)
- Intra-cranial lesions
(tumours, hydrocephalus, CNS malformations,
irradiation, trauma)
- Gonadotrophin secreting tumours – v. rare
1. Gonadotrophin-independent (FSH & LH
suppressed) Exogenous Sex Hormone
Delayed puberty
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
Adolescents that are beyond these limits should
be considered for evaluation for hypothalamic,
pituitary, gonadal dysfunction, or undiagnosed
chronic illness.
MaleGuidelines for Delayed Puberty
• Genital (G) stage 1 persists beyond age 13.7 years,
or
• Pubic hair (PH) stage 1 persists beyond 15.1 years
of age
• More than 5 years have elapsedfrom initiation to
completion of genital growth.
• The following sexual maturity ratings (SMRs) persist
past the listed guidelines:
- G2 > 2.2 years
- G3 > 1.6 years
- G4 > 1.9 years
- PH2 > 1.0
year
- PH3 > 0.5
year
Neinstein L.S. Adolescent Health Care:
A Practical Guide,
2002 Neinstein LS and
Kaufman FR:
Abnormal Growth and Development,
2002.
FemaleGuidelines for delayed puberty
• Breast (B) stage 1 persists beyond age 13.4, or
• Pubic hair stage 1 persists beyond 14.1 years, or
• There is failure to menstruate beyond 16 years of
age.
• More than 5 years have elapsed between
initiation of breast growth and menarche.
• The following sexual maturity ratings persist past
the listed guidelines:
– B2 > 1.0 year
– B3 > 2.2 years
– B4 > 6.8 years
– PH2 > 1.3
years
– PH3 > 0.9
years
Neinstein L.S. Adolescent Health Care:
A Practical Guide,
2002 Neinstein LS and
Kaufman FR:
Abnormal Growth and Development,
2002.
CausaofDelayed Puberty
General
• Constitutional delay of growth and
puberty
• Malabsorption
– Coeliac / imflammatory bowel disease
• Underweight
– Dieting, anorexia nervosa, over-exercise
• Chronic illness
– Asthma, malignancy, beta thallasaemia
major
CausaofDelayed Puberty (con’t)
• Gonadal failure
- ChromosomalAbnormalities
– Post-malignancy chemo / radiotherapy /
surgery
– Polyglandular autoimmune syndromes
• Gonadal deficiency
– Congenital hypogonadotrophic
hypogonadism
– Hypothalamic/pituitary lesions (tumours,
post- radiotherapy)
– Rare gene mutations inactivating FSH/LH or
their receptors
Turner’s Syndrome
• About one case in 3,000 live female
births
• Short stature
• CVS
• Coarctation of aorta
• Spont. aortic dilatation
• hypertension
• Lymphoedema
• Recurrent otitis media
• Dysplastic nails
• Crohn’s/U.C., cancer colon
• R.A.
• Thyroid disease
• D.M.
Klinefelter's syndrome
• One case in 700 live male
births
• Tall stature
• Eunuchoid body :
- Long legs
- Relatively short arms,
- Height:arm-span ratio
>1.0
• Testes are small but firm, and
• Gynecomastia is often
present.
Constitutionaldelay of puberty
• 90% of delayed puberty is constitutional delay of
puberty
• The following items should be considered :
- No chronic disease contribute to growth failure
- Nutritional status is normal
- Growth rate at least 3.7 cm/year
- Physical examination normal including genital anatomy
- Normal CBC, sedimentation rate, urinalysis result and TSH
- Normal serum LH & FSH (may not be needed in all cases)
- The bone age is delayed 1.5 to 4.0 years
- Supportive evidence includes a family history of
constitutional delay & a height between 3 rd and 25th
percentiles for chronologic age

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disorderofpuberty.pptx

  • 1. Disorder of Puberty (Precocious & Delayed Puberty) Competencies-based curricullum 4th semester 7th block Disorder ofPuberty (Precocious & Delayed Puberty) Competencies-Based Curricullum 4th Semester 7th Block
  • 2. Whatis puberty? • biological changes and sexual maturation that occur during the transition from childhood to adulthood • Average age of onset: –10 (range 8-13) years in Girls –12 (range 10-15) years in Boys
  • 3. Importanti t e m sint h ep u b e r t ye v a l u a t i o n History : - Growth record - Family history of growth disorders and ages of maturation - Review of systems, and - Nutritional history. Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002 Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.
  • 4. Physical examination Should include a complete examination but particularly focus on: - Nutritional status - Body measurements - Sexual maturity rating - Thyroid exam - Cardiac exam (for congenital heart disease) - Chest exam (for chronic pulmonary disease) - Abdominal exam (hepatosplenomegaly as sign of chronic system disease) - External vaginal examination (evaluate for presence of uterus and ovaries) - Neurologic exam (for intracranial pathology)
  • 5. Basic Laboratory tests - Complete blood count (anemia) - Urinalysis (chronic renal disease) - Sedimentation rate (screen for chronic systemic disease) - Chemistry panel including glucose, creatinine, calcium phosphorus, albumin, protein and liver enzymes - A bone age is an essential part of the evaluation for delayed puberty. - TSH: A screen for thyroid dysfunction
  • 6. • For specific diagnostic assessments & therapeutic management needs appropriate other health professionals (Endocrinologist, Gynaecologist) • Health care provider must be prepared to help the adolescent with long term follow- up & psychological support including - Identification of the problem, - Growth and sexual maturation, - Sexual identity and - Reproductive potential.
  • 7.
  • 8. PRECOCIOUS PUBERTY Precocious onset of puberty is defined as occurring younger than 2 SD before the average age  Girls <8 years old : Develops breast & pubic hair before 8 years old  Boys <9 years old: Has an increase in testicle size & penis length before 9 years of age
  • 9. CausaofPrecocious Puberty 1. Gonadotrophin-dependent (true / central) - Intra-cranial lesions (tumours, hydrocephalus, CNS malformations, irradiation, trauma) - Gonadotrophin secreting tumours – v. rare 1. Gonadotrophin-independent (FSH & LH suppressed) Exogenous Sex Hormone
  • 10. Delayed puberty 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 Adolescents that are beyond these limits should be considered for evaluation for hypothalamic, pituitary, gonadal dysfunction, or undiagnosed chronic illness.
  • 11. MaleGuidelines for Delayed Puberty • Genital (G) stage 1 persists beyond age 13.7 years, or • Pubic hair (PH) stage 1 persists beyond 15.1 years of age • More than 5 years have elapsedfrom initiation to completion of genital growth. • The following sexual maturity ratings (SMRs) persist past the listed guidelines: - G2 > 2.2 years - G3 > 1.6 years - G4 > 1.9 years - PH2 > 1.0 year - PH3 > 0.5 year Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002 Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.
  • 12. FemaleGuidelines for delayed puberty • Breast (B) stage 1 persists beyond age 13.4, or • Pubic hair stage 1 persists beyond 14.1 years, or • There is failure to menstruate beyond 16 years of age. • More than 5 years have elapsed between initiation of breast growth and menarche. • The following sexual maturity ratings persist past the listed guidelines: – B2 > 1.0 year – B3 > 2.2 years – B4 > 6.8 years – PH2 > 1.3 years – PH3 > 0.9 years Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002 Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.
  • 13. CausaofDelayed Puberty General • Constitutional delay of growth and puberty • Malabsorption – Coeliac / imflammatory bowel disease • Underweight – Dieting, anorexia nervosa, over-exercise • Chronic illness – Asthma, malignancy, beta thallasaemia major
  • 14. CausaofDelayed Puberty (con’t) • Gonadal failure - ChromosomalAbnormalities – Post-malignancy chemo / radiotherapy / surgery – Polyglandular autoimmune syndromes • Gonadal deficiency – Congenital hypogonadotrophic hypogonadism – Hypothalamic/pituitary lesions (tumours, post- radiotherapy) – Rare gene mutations inactivating FSH/LH or their receptors
  • 15.
  • 16. Turner’s Syndrome • About one case in 3,000 live female births • Short stature • CVS • Coarctation of aorta • Spont. aortic dilatation • hypertension • Lymphoedema • Recurrent otitis media • Dysplastic nails • Crohn’s/U.C., cancer colon • R.A. • Thyroid disease • D.M.
  • 17. Klinefelter's syndrome • One case in 700 live male births • Tall stature • Eunuchoid body : - Long legs - Relatively short arms, - Height:arm-span ratio >1.0 • Testes are small but firm, and • Gynecomastia is often present.
  • 18. Constitutionaldelay of puberty • 90% of delayed puberty is constitutional delay of puberty • The following items should be considered : - No chronic disease contribute to growth failure - Nutritional status is normal - Growth rate at least 3.7 cm/year - Physical examination normal including genital anatomy - Normal CBC, sedimentation rate, urinalysis result and TSH - Normal serum LH & FSH (may not be needed in all cases) - The bone age is delayed 1.5 to 4.0 years - Supportive evidence includes a family history of constitutional delay & a height between 3 rd and 25th percentiles for chronologic age