Congenital Adrenal Hyperplasia

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Introductory and conceptual presentation on congenital adrenal hyperplasia.

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Congenital Adrenal Hyperplasia

  1. 1. Presenter: SANA MATEEN MUNSHI
  2. 2. STEROIDOGENESIS CHOLESTEROL PREGNENOLONE PROGESTERONE DEOXYCORTICOSTTERONE CORTICOSTERONE ALDOSTERONE 17- HYDRO PREGNENOLONE 17- HYDRO PROGESTERONE 11- DEOXYCORTISOL CORTISOL DEHYDRO PLANDRO STERONE ANDROSTEN EDIONE TESTOSTERONE
  3. 3. “A group of autosomal recessively inherited disorders associated with a deficiency of one of the enzymes involved in cortisol biosynthesis, resulting in elevation of ACTH levels and overproduction and accumulation of cortisol precursors.”
  4. 4. ENZYMES GENES INVOLVED  17 alpha hydroxylase  21 alpha hydroxylase  11 beta hydroxlase  18 oxidase CYP17A  CYP21A  CYP11B1 CYP11B2
  5. 5. CHOLESTEROL PREGNENOLONE PROGESTERONE 17- HYDRO PREGNENOLONE DEHYDRO PLANDRO STERONE 17- HYDRO PROGESTERONE ANDROSTE NEDIONE TESTOSTERONE
  6. 6. SALT LOSING/ CLASSICAL CAH SIMPLE VIRILISING/ NON SALT LOSING CAH NON CLASSICAL/ LATE CAH
  7. 7. • Hyponatremia •Hyperkalemia •Hypoglycemia •Hypotenion •Hypertension •Hyperpigmentation
  8. 8. D I A G N O S I S investigation Imaging studies  CT scanning  Pelvic ultrasonograpy  Urogenitography  Examination of genitals  Urinary tests  Blood tests  Harmonal tests Other tests  Karyotype  Genetic testing
  9. 9. • Diet • Medication • Surgery REFER for further details: http://emedicine.medscape.com/article/919218-overview
  10. 10. THANK YOU!!

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