DISORDERS OF PUBERTY

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DISORDERS OF PUBERTY

• JEROME ELUSIYAN
• PAED. ENDOCRINOLOGY
• FELLOWSHIP, KENYA

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OUTLINE

• PUBERTY- DEFN, ONSET, INITIATION
• DISORDER OF
• DELAYED PUBERTY
• PRECOCIOUS PUBERTY
• EVALUATION OF DISORDER
• MANAGEMENT
• CONCLUSION

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PUBERTY

• PUBERTY IS THE PERIOD DURING WHICH THE FINAL
  MATURATION OF GROWTH AND DEVELOPMENT OCCURS,
  RESULTING IN A PHYSICALLY ADULT, SEXUALLY MATURE
  INDIVIDUAL

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PUBERTY

• It is due to physiologic hormonal changes
• These changes are resurgence of mechanisms which
  started during in utero life
• Central focus is augmentation of both frequency
  and magnitude of gonadotropin pulsatile secretion

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INITIATION OF PUBERTY

• FOLLOWS AS YET UNKNOWN CNS MATURATIONAL PROCESS
• There is an escalation of hypothalamic
  gonadotropin- releasing hormone episodic
  secretion
• This is due to either removal of inhibition or
  from increased stimulation of higher CNS centers

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ONSET OF PUBERTY

• MALE
• 9.5-14YEARS
• (Mean 11.5-12.5)
• Testicular enlargement ( Vgt4ml or length gt2.5cm)
• Penile growth
• Pubic hair

• FEMALE
• 8-13 YEARS
• Breast development
• Pubic hair
• menstruation

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DELAYED PUBERTY

• BOYS
• Failure to mature sexually in age- appropriate
  fashion
• Delayed onset gt 14yrs
• Failure to complete pubertal develop. Over normal
  3-4 yrs

• GIRLS
• IF NO BREAST DEVELOPMENT BY 13YRS
• IF MORE THAN 5YRS BETWEEN BREST DEV. AND MENARCHE

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CAUSES OF MALE DELAYED PUBERTY

1. PRIMARY HYPOGONADISM-failure of testis to respond
   to appropriate pubertal stimulation
2. HYPOGONADOTROPISM OR SECONDARY HYPOGONADISM-failur
   e of appropriate signal to appear at expected
   time
3. Delayed initiation of activation( constitutional,
   relation to chronic disease or malnutrition)

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Primary Hypogonadism

• Androgen enzymatic synthesis defect
• Androgen insensitivity syndromes, partial
• Anorchia
• Autoimmunity
• Chemotherapy
• Cryptorchidism
• Galactosaemia

• 8.Gonadal dysgenesis
• pure 46,XY
• Mixed 45,X/46,XY
• 9. Infections-mumps, coxsackie STD
• 10. Irradiation
• 11. Klinefelter 47,XXY
• 12. Prader-Willi, Laurence-Moon-Biedl
• 13. e.t.c.

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Secondary Hypogonadism

1. Craniopharyngioma
2. Granulomatous disease
3. Hemosiderosis
4. Hypothalamic/ pituitary tumours
5. Idiopathic hypopituitary
6. Irradiation
7. Isolated FSH/Gonadotropin deficiency

• 8. Kallman syndrome
• 9. Surgery
• 10. Suprasellar tumors
• 11. Syndromes
• CHARGE
• L-M-B, Lowe, P-W,
• Leopard. Rud

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Delayed Initiation

• Anorexia Nervosa
• Chronic systemic illness or treatment effects
• cardiac
• gastrointestinal- chrons
• Haematologic-SSA
• Malignancy
• Malnutrition
• Pulmonary
• Renal, chronic

• Constitutional delay
• Emotional stress
• Endocrinoparthies
• Cushing's, Diabetes Mellitus, hypothyroidism,
  hyperprolactinemia
• Excessive exercise
• physical stress/overexertion
• Psychosocial dwarfism

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EVALUATION

• CAREFUL HISTORY
• PAST MEDICAL HISTORY
• PHYSICAL EXAMINATION
• FAMILY GROWTH/PUBERTY HISTORY
• BASIC HORMONAL TESTING-LH,FSH, TESTOSTERONE
• BONE AGE RADIOGRAPH

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EVALUATION

• PRIMARY
• Low testosterone, High LH,FSH
• SECONDARY/ DELAYED MATURATION
• Low testosterone, Low LH, FSH
• FURTHER GONADOTROPIN/ GONADAL HORMONE TESTING IS
  SELDOM HELPFUL
• GnRH stimulation test and hCG testing yield
  similar result in secondary and physiologicaly
  delayed

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TREATMENT

• Treatment irrespective of cause is TESTOSTERONE
• Stimulates somatic growth and pubertal
  stimulation
• Use long acting esters in oil( enanthate or
  cyprionate)
• Start with 25-75mg every 4 weeks then increase to
  adult replacement dose of 200mg every 2wks
• Begin at usual age of puberty for primary
• In secondary, because of effect on final height,
  give in relation to other defects and other
  theapy

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TREATMENT

• Synthetic oral or sublingual forms may be
  inadequate
• Transdermal and depot forms are now available
• GnRH or gonadotropin could be used to stimulate
  testicular androgens, but it is
• expensive and not practical for long term use

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CAUSES OF FEMALE DELAYED PUBERTY

• ALSO COULD BE SUBDIVIDED INTO
• HYPERGONADOTROPIC HYPOGONADISM
• HYPOGONADOTROPIC HYPOGONADISM
• CONSTITUTIONAL DELAY

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Hypergonadotropic hypogonadism

• Syndrome of gonadal dysgenesis and its variants
  (Turners syndrome)
• Familial or sporadic XX AND XY gonadal dysgenesis
  and its variants
• Other forms of primary ovarian failure
• post bilateral oophorectomy, post irradiation
  or post chemotherapy, Autoimmune oophoritis,
  toxic substances eg galactose and metabolites
• 17-Hydroxylase deficiency

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Hypogonadotropic hypogonadism

• CNS-Hypothalamic/pituitary gland
• congenital anomalies, tumors,post
  inflammatory, trauma
• Idiopathic and genetic forms of multiple
  pituitary hormone deficiency
• Isolated idiopathic GnRH deficiency
• Miscellaneous- LMB, P-W,
• Functional gonadotropin deficiency( chronic
  systemic dx, anorexia nervosa, hypothyroidism,
  strenuous exercise

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EVALUATION

• AS FOR MALE DELAYED PUBERTY
• History must include family history of onset and
  pattern of growth and sexual development, ability
  to smell, and the presence of headache or visual
  disturbances.
• Bone age radiograph is important
• Few selective tests may be necessary

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TREATMENT

• CONSTITUTIONAL DELAY
• There may not be need for therapy, as it
  may further suppress the axis
• Therapy may be given in the adolescent who
  has marked psychological disability
• Give ethinyl estradiol 5µg/day orally give till
  Tanner 3

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TREATMENT

• 2. HYPOGONADOTROPIC HYPOGONADISM
• Hyperprolactinomas- transphenoidal microsurgery
  or give dopamine agonist drugs e.g bromocriptine
• Funtional gonadotropin deficiency- treat primary
  disorder ( sex steroids only if absolutely
  necessary
• Gonadotropin deficiency- oral ethinyl estradiol
  0.02mg/d for 21 days of each month
  medroxyprogesterone 10mg from 14 to 21st day

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TREATMENT

• 3. Hypergonadotropic hypogonadism
• Gonadal dysgenesis- give hormone replacement
  cyclical estrogen progestrogen at time of
  puberty.
• Turners- start estrogen when they express
  concern about puberty then add progestrogen
  later

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• We shall continue with the other side of the coin
  later precocious puberty

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Thank you all