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An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

By Traci L. Schaeffer, Jeanie B. Tryggestad, Ashwini Mallappa, Adam E. Hanna, Sowmya Krishnan, Steven D. Chernausek, Laura J. Chalmers, William G. Reiner, Brad P. Kropp and Amy B. Wisniewski

Abstract

In 2002 a consensus statement pertaining to the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency was jointly produced by the Lawson Wilkins Pediatric Endocrine Society and the European Society of Pediatric Endocrinology. One of the recommendations of this consensus was that centers should maintain multidisciplinary teams for providing care and support to these patients and their families. However, the specifics for how this should be accomplished were not addressed in the original consensus statement. Here we interpret and translate the 2002 consensus statement recommendations into medical, surgical and mental health protocols. Additionally, we provide preliminary evidence that such protocols result in improved care and support for patients and families

Topics: Review Article
Publisher: Hindawi Publishing Corporation
OAI identifier: oai:pubmedcentral.nih.gov:2842898
Provided by: PubMed Central

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Citations

  1. (2005). A .B .D e s s e n s ,F .M .E .S l i j p e r ,a n dS .L .S .D r o p ,“ G e n d e r dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia,”
  2. (2007). A .M a r t i n e z - A g u a y o ,A .R o c h a ,N .R o j a s ,e ta l . ,“ T e s t i c u l a r adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia,”
  3. (2001). Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency,”
  4. (2003). Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report,”
  5. (1994). Bone density and turnover in Addison’s disease: effect of glucocorticoid treatment,”
  6. (2000). Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency afterglucocorticoidtreatmentsinceinfancy,”EuropeanJournal of Endocrinology,
  7. (1995). Bone mineral density and body composition
  8. (1997). Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia,”
  9. (2007). C l a a h s e n - v a nd e rG r i n t e n
  10. (2002). CAH Working Group, “Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology,”
  11. (2007). Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone,”
  12. (2006). Cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency,”
  13. (1993). Congenital adrenal hyperplasia complicated by central precocious puberty: treatment with LHRH-agonist analogue,”
  14. (2005). Congenital adrenal hyperplasia,”
  15. (2008). Congenital adrenal hyperplasia,” Dermatologic Therapy,
  16. (2005). Congenital Adrenal Hyperplasia: A Parent’s Guide, Author House,
  17. (2001). Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment,” Paediatric Drugs,
  18. (1977). Congenital adrenal hyperplasia: mortality experience,”
  19. (2009). Consensus statement on the use of gonadotropinreleasing hormone analogs in children,”
  20. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe,” Archives of Disease in Childhood.
  21. (2005). Cosmetic and anatomic outcomes after feminizing surgery for ambiguous genitalia,”
  22. (2008). Development of the congenital adrenal hyperplasia knowledge assessment questionnaire
  23. (2000). Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth,”
  24. (2007). Duffy ,P .C u c k o w ,P .R a n s l e y ,a n dD .T .W i l c o x , “Long-term outcome of vaginal reconstruction: comparing techniques and timing,”
  25. (2002). Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome,”
  26. (2006). Feminizing reconstructive surgery for ambiguous genitalia: the Leipzig experience,”
  27. (2007). Fractures andbonemineraldensityinadultwomenwith21-hydroxylase deficiency,”
  28. (2009). Fris´ e n ,A .N o r d e n s t r¨
  29. (2004). Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency,”
  30. (1997). Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height,”
  31. (2001). Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis,”
  32. (2000). Height, bone mineral density and bone markers in congenital adrenal hyperplasia,”
  33. (2001). High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia,”
  34. (2007). How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?”
  35. (2001). Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia,”
  36. (2005). Impact of availability of oral hydrocortisone on growth of children with
  37. (2008). Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency,”
  38. (2007). Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia,”
  39. (2007). Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia
  40. (1985). LHRH analog treatment of central precocious puberty complicating congenital adrenal hyperplasia,”
  41. (2006). Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia,”
  42. (2000). Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty,”
  43. (2008). Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia: does dexamethasone cause behavioural problems?”
  44. (2000). M e r k e ,M .F .K e i l ,J .V .J o n e s ,J .F i e l d s ,S .H i l l
  45. (2003). Medical photography: ethics, consent and the intersex patient,”
  46. (1989). Monitoring treatment in congenital adrenal hyperplasia,”
  47. (2007). Nerve sparing ventral clitoroplasty preserves dorsal nerves in congenital adrenal hyperplasia,”
  48. (2003). Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia,”
  49. (2006). o h a n n s e n ,C .P .L .R i p a ,E .L .M o r t e n s e n ,a n dK
  50. (2009). o n fi g ,S .B .D .P o z z a ,H .S c h m i d t ,P .P a g e l ,D .K n o r r
  51. (2001). Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood,”
  52. (1995). Pelvic ultrasonography: early differentiation between isolated premature thelarche and central precocious puberty,”
  53. (2004). Perspectives on glucocorticoid-induced osteoporosis,”
  54. (2006). Pippi Salle, “Prospective evaluation of feminizing genitoplasty using partial urogenital sinus mobilization for congenital adrenal hyperplasia,”
  55. (2006). Prenatal testosterone and gender-related behaviour,”
  56. (2004). Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency,”
  57. (2006). Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency,”
  58. (2007). Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty,”
  59. (1999). Regular monitoring of bone age is useful in children treated with growth hormone,”
  60. (1981). Reinstitution of mineralocorticoid therapy
  61. (2001). Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?”
  62. (1992). Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia,”
  63. (2008). Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia,”
  64. (2008). Sexual orientation in women with classical or nonclassical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess,”
  65. (1999). Testicular adrenal rest tissue in congenital12
  66. (1997). The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia,”
  67. (2005). Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia,”
  68. (2008). Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia,”
  69. (2006). Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche,”
  70. (2002). V a nd e rK a m p ,B .J .O t t e n ,N .B u i t e n w e g ,e ta l . ,“ L o n -gitudinal analysis of growth and puberty
  71. (2008). Why the consensus for consensus?”

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