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Non-Classic Congenital Adrenal Hyperplasia: update on the diagnosis and treatment

Non-Classic Congenital Adrenal Hyperplasia: update on the diagnosis and treatment. Presented by G. Taghipour, MD AZAR 1396. Introduction.

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Non-Classic Congenital Adrenal Hyperplasia: update on the diagnosis and treatment

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  1. Non-Classic Congenital AdrenalHyperplasia:update on the diagnosis and treatment Presented by G. Taghipour, MD AZAR 1396

  2. Introduction Congenital adrenal hyperplasia (CAH) refers to a group of inherited autosomal recessive disorders that arise from defective steroidogenesis and results from a deficiency in one or several of the enzymes of cortisol biosynthesis. CAH is associated with higher CV risk factors and probably with excess CV and metabolic morbidity. Fertility rate, i.e. live births per woman, is significantly lower in CAH women than in the general female population

  3. Normal Adrenal Steroidogenesis

  4. Introduction The other forms of CAH other than CYP21A2, including:

  5. A: CYP17A1 deficiencies

  6. A: CYP17A1 deficiencies Clinical presentation CYP17A1: The classic presentation of severe 17OHD in phenotypic females (who can have 46,XX or 46,XY karyotypes) includes:

  7. A: CYP17A1 deficiencies The diagnosis of 17OHD:

  8. A: CYP17A1 deficiencies The Treatment:

  9. A: CYP17A1 deficiencies The Treatment:

  10. A: CYP17A1 deficiencies The Treatment:

  11. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency A rare form of CAH in which synthesis of all active steroid hormones is impaired. This very rare disorder, like 17OHD, impairs both adrenal and gonadal steroid production. Both male and female infants are born with genital ambiguity.

  12. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency Clinical presentation:

  13. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency Clinical presentation:

  14. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency The diagnosis :

  15. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency The Managment :

  16. B: 3-beta-hydroxysteroid dehydrogenase type 2 deficiency The Managment :

  17. C: CYP11B1 deficiency

  18. C: CYP11B1 deficiency Clinical presentation:

  19. C: CYP11B1 deficiency The diagnosis :

  20. C: CYP11B1 deficiency The Treatment:

  21. C: CYP11B1 deficiency The Treatment: In adult women: Androgen excess and hypertension remain indications for treatment

  22. C: CYP11B1 deficiency The Treatment: In adult males: At least replacement doses of hydrocortisone should be administered to avoid the development of adrenal rest tumors.

  23. CYP21A2 The most common cause of CAH worldwide is 21-hydroxylase deficiency (21OHD). CAH due to 21-hydroxylase deficiency (21OHD) is the result of deletions or deleterious mutations in the active gene CYP21A2.There are many mutations of the CYP21A2 gene identified so far, which are the causes of varying degrees of impairment of 21-hydroxylase activity. Most patients are compound heterozygotes.

  24. CYP21A2 Classic 1 Severe: salt-wasting (SW) Less severe: simple virilizing (SV) Non-Classic 2 least severe form

  25. CYP21A2 Classic form

  26. CYP21A2 Classic form

  27. CYP21A2 Classic form Management:

  28. CYP21A2 Classic form Management:

  29. CYP21A2 Classic form Management:

  30. CYP21A2 Non-Classic form

  31. CYP21A2 Non-Classic form Genetics of NCAH:

  32. CYP21A2 Non-Classic form Pathophysiology of NCAH:

  33. CYP21A2 Non-Classic form Hyperandrogenism in NCAH:

  34. CYP21A2 Non-Classic form Clinical presentation of NCAH in Children:

  35. CYP21A2 Non-Classic form Clinical presentation of NCAH in adult women: Principle area:

  36. CYP21A2 Non-Classic form Clinical presentation of NCAH in adult women:

  37. CYP21A2 Non-Classic form Fertility and reproductive outcome in women with NCAH:

  38. CYP21A2 Non-Classic form Fertility and reproductive outcome in women with NCAH:

  39. CYP21A2 Non-Classic form Clinical presentation of NCAH in adult males:

  40. CYP21A2 Non-Classic form Other clincal presnentations:

  41. CYP21A2 Non-Classic form Prevalence of non-classic congenital adrenal hyperplasia

  42. CYP21A2 Non-Classic form Who should be tested for NCAH:

  43. CYP21A2 Non-Classic form Diagnosis of NCAH:

  44. CYP21A2 Non-Classic form Diagnosis of NCAH:

  45. CYP21A2 Non-Classic form Differential diagnosis of NCAH:

  46. CYP21A2 Non-Classic form Treatment of NCAH: Prepubertal and adolescent patients

  47. CYP21A2 Non-Classic form Treatment of NCAH: Prepubertal and adolescent patients

  48. CYP21A2 Non-Classic form Treatment of NCAH: Adult women

  49. CYP21A2 Non-Classic form Treatment of NCAH: Adult women

  50. CYP21A2 Non-Classic form Treatment of NCAH: Adult women

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