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Precocious puberty

complete and incomplete precocious puberty

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Precocious puberty

  2. 2. Definition of precocious puberty Precocious puberty is defined as the onset of secondary sexual characteristics before 8 yr of age in girls and 9 yr in boys.
  3. 3. Classification: Complete Central ( gonadotropin-dependent puberty, GDPP) Peripheral (gonadotropin-independent puberty, GIPP) Incomplete Premature thelarche Premature pubarche Premature menarche
  4. 4. Gonadotropin-dependent precocious puberty ( GDPP)  also known as true precocious puberty  early activation of the entire hypothalamic-pituitary- gonadal (HPG) axis  is caused by the secretion of high-amplitude pulses of gonadotropin-releasing hormone (GnRH) by the hypothalamus.  Although the onset is early, the pattern and timing of pubertal events usually progresses in the normal sequence.
  5. 5. Gonadotropin-dependent precocious puberty • Non- CNS lesion: - Idiopathic - Genetics -Prolonged, untreated severe hypothyroidism • CNS lesion: -CNS tumour - CNS irradiation - hydrocephalus, cysts, trauma, CNS inflammatory disease,
  6. 6.  condition occurs at least 5- to 10-fold more frequently in girls than in boys  Approximately 90% of sexual precocity in girls is idiopathic  75% of boys have a structural CNS abnormality
  7. 7. Causes of CNS lesion:  Hypothalamic hamartomas are the most common brain lesion causing true precocious puberty.  Hamartomas are non-malignant tumours of the tuber cinereum that consists of disorganized collection of neurons and glias.  ectopically located neural tissue containing GnRH-secretory neurons and may function as an accessory GnRH pulse generator  Other tumour: astrocytoma, optic and hypothalamic glioma
  8. 8. Causes of CNS lesion: (cont.) Radiation therapy for leukemia or intracranial tumours  irradiation is directed to the hypothalamic area or to areas of the brain anatomically distant from the hypothalamus  increases the risk of precocious puberty
  9. 9. Clinical manifestations:  Begin at any age, follows the sequence observed in normal puberty  In girls: Breast enlargement comes first Pubic hair may appear simultaneously but more often laters  Menarche is a late event ( irregular cycle and usually anovulatory ) The pubertal growth spurt occurs early in female puberty
  10. 10.  In boys: Testicular enlargement ( unnoticed) Enlargement of penis Axillary hair, acne, voice deepens Erections are common spermatogenesis observed as early as 5-6 yr of age
  11. 11.  In both gender: Height, weight, and osseous maturation are advanced Without treatment, 30% early closure of the epiphyses > height less than the 5th percentile as adults Emotional and mood swings are common
  12. 12.  In intracranial lesion ( eg: hamartoma ) : Hypothalamic signs: diabetes insipidus hyperthemia unnatural crying or laughing(gelastic seizures) cachexia  In optic glioma : proptosis  In irradiation of brain : signs of growth hormone deficiency may present
  13. 13. Gonadotropin-independent precocious puberty ( GIPP)  Independent of gonadotropin secretion and no activation of the HPG axis  aka precocious pseudopuberty  caused by excess secretion of sex hormones (estrogens or androgens) derived either from the gonads or adrenal glands or from exogenous sources
  14. 14. Causes of GIPP : Girls Boys Ovarian cysts Leydig cell tumour Ovarian tumours Human chorionic gonadotropin (hCG) secreting germ cell tumors Granulosa theca cell tmour Familial male-limited precocious puberty Both in boys and girl: Exogenous estrogen Adrenal pathology ( eg: androgen-secreting tumour and CAH) Teratoma McCune-Albright syndrome
  15. 15. How to approach:  Onset of age?  Is the cause of precocity central or peripheral? Need to ask the pattern of pubertal development in GDPP  normal pubertal development but at an earlier age  How quickly is the puberty progressing? rapid bone maturation suggest either GDPP or GIPP  Presence of headaches or seizures ? CNS lesion  Previous history of CNS disease or trauma?  Are the secondary sexual characteristics virilizing or feminizing?  feminizing in Sertoli cell tumor  Virilization in CAH  Any exposure to exogenous sex steroids?? (medicinal or cosmetic sources)  Timing of pubertal onset in his or her parents and siblings? family history of similar symptoms?
  16. 16. Physical examination:  Measurements of height, weight, and calculation of height velocity (cm/yr)  Pubertal staging:  In girls : - Breast staging, pubic hair,  In boys: - Testicular volume? Penile size? Pubic hair?  Abdominal examination:  Palpate for mass ( in ovarian cyst and tumour)  Neurological examination (neurological deficit?)  Eye examination :  Fundoscopy :look for papilledema ( in CNS lesion)  Visual field  Look for signs of virilization in female? Ambigious genitalia? Hirsutism?  Dermatological exam to evaluate for cafe-au-lait spots( in McCune-Albright syndrome).
  17. 17. Investigations: Serum LH concentration Proceed with GnRH stimulation test If basal level of LH are low or intermediate If LH and FSH levels not increase with GnRH stimulation ( GIPP) If LH and FSH levels increase with GnRH stimulation ( GDPP ) If basal level of LH are markedly elevated Confirm GDPP
  18. 18. ** Patients with GDPP must proceed with brain imaging to exclude any CNS lesion Contrast-enhanced MRI is use to detect any hypothalamic and infundibular lesion
  19. 19. Other investigations:  Sex hormone  To establish degree of biochemical pubertal enhancement  Serum estradiol are low or undetectable in the early phase of sexual precocity  Serum testosterone levels are detectable or clearly elevated  Thyroid function test - To be done if there is any clinical evidence of hypothyroidism  Radiographic assessment of bone age: - If the patient has a normal bone age, he or she is unlikely to have GDPP
  20. 20.  Several ix to identify the peripheral cause of precocious puberty ( GIPP ): - Serum testosterone and estradiol - Serum LH and FSH - Renal profile (check on dehydration or electrolytes imbalance)  in aldosterone deficiency - Serum cortisol  to screen for Cushing syndrome - Abdominal and pelvic ultrasound  to identify presence of ovarian cysts or tumour - Ultrasound of testes  possibility of Leydig cell tumour
  21. 21. Management of GDPP:  The treatment options depend upon the cause of the precocious puberty  If (GDPP) is caused by an identifiable central nervous system (CNS) lesion therapy is directed toward the underlying pathology  For most patients with GDPP  primary treatment option  gonadotropin-releasing hormone (GnRH) agonist  GnRH agonist administration  slows accelerated puberty and improves final height
  22. 22.  The decision of whether to treat GDPP with a GnRH agonist depends on: - child’s age - the rate of pubertal progression - height velocity - rate of bone age advancement.
  23. 23. Management for GIPP  GIPP does not respond to GnRH agonist therapy. Instead, treatment is directed at the underlying pathology:  Children with tumors of the testis, adrenal gland, and ovary treated by surgery.  Those with hCG-secreting tumors  require some combination of surgery, radiation therapy, and chemotherapy depending upon the site and histologic type.
  24. 24. Management for GIPP (cont.)  A large functioning follicular cyst of the ovary  Cysts develop and regress spontaneously conservative management  Children whose sexual precocity is caused by exposure to exogenous sex steroids  exposure identified and removed  Children with identifiable defects in adrenal steroidogenesis ( CAH )  glucocorticoid therapy
  25. 25. Incomplete precocious puberty  Definition: isolated manifestations of precocity without development of other signs of puberty. Incomplete Premature thelarche Premature pubarche Premature menarche
  26. 26. Premature thelarche  Transient condition of isolated breast development that most often appears in the first 2 yr of life, often persists for 3-5 yr, and is rarely progressive  mostly  idiopathic  either remit spontaneously or are very slowly progressive.  no other signs of pubertal development and their growth rate is normal.  Serum estradiol : usually normal  Mx: reassurance and monitoring regularly for any other sign of pubertal advancement
  27. 27. Premature pubarche  Appearance of sexual hair before the age of 8 yr in girls or 9 yr in boys without other evidence of maturation  Slowly progressive condition that requires no therapy  Longitudinal observations suggest that ~50% of affected girls are at high risk for  Hyperandrogenism  Polycystic ovary syndrome  Metabolic syndrome
  28. 28. Premature menarche  Diagnosis of exclusion  Isolated vaginal bleeding in the absence of other secondary sexual characteristics  Very rare  Carefully exclude:  Vulvovaginitis  Foreign body  Sexual abuse