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Disorder of Puberty
       Disorder of Puberty
(Precocious & Delayed Puberty)
 (Precocious & Delayed Puberty)

   Competencies-based curricullum 4th
    Competencies-Based
          semester 7th block
         Curricullum
     th Semester 7th Block
   4
What is 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
Important items in the puberty evaluation
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.
Disorder Of Puberty
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
Causa of Precocious Puberty
1. Gonadotrophin-dependent (true / central)
   - Intra-cranial lesions
    (tumours, hydrocephalus, CNS malformations,
     irradiation, trauma)
   - Gonadotrophin secreting tumours – v. rare

2. 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.
Male Guidelines 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 elapsed from 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        Neinstein L.S. Adolescent Health Care:
                                                    A Practical Guide, 2002
            - PH3 > 0.5 year
                                            Neinstein LS and Kaufman FR:
            - PH4 > 1.5 years   Abnormal Growth and Development, 2002.
Female Guidelines 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        Neinstein L.S. Adolescent Health Care:
                                                 A Practical Guide, 2002
        – PH3 > 0.9 years                Neinstein LS and Kaufman FR:
        – PH4 > 2.4 years    Abnormal Growth and Development, 2002.
Causa of Delayed 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
Causa of Delayed Puberty (con’t)
• Gonadal failure
  - Chromosomal Abnormalities
  – 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
Disorder Of Puberty
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.
Constitutional delay 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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Disorder Of Puberty

  • 1. Disorder of Puberty Disorder of Puberty (Precocious & Delayed Puberty) (Precocious & Delayed Puberty) Competencies-based curricullum 4th Competencies-Based semester 7th block Curricullum th Semester 7th Block 4
  • 2. What is 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. Important items in the puberty evaluation 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.
  • 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. Causa of Precocious Puberty 1. Gonadotrophin-dependent (true / central) - Intra-cranial lesions (tumours, hydrocephalus, CNS malformations, irradiation, trauma) - Gonadotrophin secreting tumours – v. rare 2. 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. Male Guidelines 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 elapsed from 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 Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002 - PH3 > 0.5 year Neinstein LS and Kaufman FR: - PH4 > 1.5 years Abnormal Growth and Development, 2002.
  • 12. Female Guidelines 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 Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002 – PH3 > 0.9 years Neinstein LS and Kaufman FR: – PH4 > 2.4 years Abnormal Growth and Development, 2002.
  • 13. Causa of Delayed 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. Causa of Delayed Puberty (con’t) • Gonadal failure - Chromosomal Abnormalities – 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
  • 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. Constitutional delay 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