Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.

BACKGROUND Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Many issues in the management of CAH in children still remain unresolved. OBJECTIVE To assess how children with CAH are treated in Canada. METHODS Fifty-nine paediatric endocrinologists and postgraduate trainees from across Canada took part in a survey that evaluated four areas of CAH management: type and dose of glucocorticoid therapy, current use of alternative therapies, monitoring of care, and approach/attitude to prenatal diagnosis and treatment of CAH. RESULTS AND CONCLUSIONS The present survey demonstrated that there is general agreement among paediatric endocrinologists in Canada regarding the management of patients with CAH, which includes very little use of newer antiandrogen therapies. The goal remains to be the optimization of currently available therapy to ensure normal growth and sexual maturation without any evidence of glucocorticoid excess or deficiency. Prenatal diagnosis and management is widely, but infrequently, used.

[1]  J. Popović,et al.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2005, Journal for specialists in pediatric nursing : JSPN.

[2]  C. Polychronakos,et al.  Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency. , 2003, The Journal of pediatrics.

[3]  W. Miller,et al.  Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society , 2002, Hormone Research in Paediatrics.

[4]  H. Guyda,et al.  Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia. , 2002, The Journal of pediatrics.

[5]  D. Poppas,et al.  Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency. , 2002, Pediatrics.

[6]  M. New,et al.  EXTENSIVE PERSONAL EXPERIENCE: Prenatal Diagnosis for Congenital Adrenal Hyperplasia in 532 Pregnancies , 2001 .

[7]  P. Speiser,et al.  Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. , 2001, Endocrinology and metabolism clinics of North America.

[8]  S. Rivkees,et al.  Dexamethasone Treatment of Virilizing Congenital Adrenal Hyperplasia: The Ability to Achieve Normal Growth , 2000, Pediatrics.

[9]  D. Merke,et al.  Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. , 2000, The Journal of clinical endocrinology and metabolism.

[10]  C. Stratakis,et al.  Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. , 1999, Critical reviews in clinical laboratory sciences.

[11]  S. Rivkees,et al.  Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples. , 1999, The Journal of pediatrics.

[12]  I. Silva,et al.  Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia , 1997, Archives of disease in childhood.

[13]  B. Hauffa,et al.  Treatment and Disease Effects on Short-term Growth and Adult Height in Children and Adolescents with 21-hydroxylase Deficiency , 1997, Klinische Padiatrie.

[14]  M. New,et al.  The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. , 1996, The Journal of clinical endocrinology and metabolism.

[15]  J. Batch,et al.  Adrenal 21‐hydroxylase deficiency in childhood: 25 years' experience , 1995, Journal of paediatrics and child health.

[16]  M. New,et al.  Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). , 1995, The American journal of medicine.

[17]  M. Forest,et al.  [Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. , 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[18]  W. Miller,et al.  Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency. , 1994, The Journal of clinical endocrinology and metabolism.

[19]  A. Iranmanesh,et al.  Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis. , 1993, The Journal of clinical endocrinology and metabolism.

[20]  R. Lala,et al.  Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 1993, The Journal of pediatric endocrinology.

[21]  A. Yergey,et al.  Cortisol production rate in childhood and adolescence. , 1990, The Journal of pediatrics.

[22]  I. Hughes.  Monitoring treatment in congenital adrenal hyperplasia. , 1990, Archives of disease in childhood.

[23]  G. Bryan,et al.  The use of plasma androstenedione in monitoring therapy of patients with congenital adrenal hyperplasia. , 1979, The Journal of pediatrics.

[24]  M. New,et al.  SERUM ANDROGENS AS A CONTINUING INDEX OF ADEQUACY OF TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA , 1977, Pediatric Research.

[25]  R. Lewis,et al.  The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia. , 1950, Bulletin of the Johns Hopkins Hospital.

[26]  D. Merke,et al.  Congenital Adrenal Hyperplasia , 2001, Paediatric drugs.

[27]  M. New,et al.  Growth and final height in classical and nonclassical 21-hydroxylase deficiency. , 1989, Journal of endocrinological investigation.

[28]  J. Sólyom.  Management of congenital adrenal hyperplasia. , 1984, Lancet.

[29]  M. M. Ilondo,et al.  Plasma levels of androgens and 17 alpha-OH-progesterone as an index of the adequacy of treatment in congenital adrenal hyperplasia. , 1983, Hormone Research.

[30]  P. A. Lee,et al.  Plasma progesterone, 17-hydroxyprogesterone, androstenedione and testosterone in prepubertal, pubertal and adult subjects with congenital virilizing adrenal hyperplasia as indicators of adrenal suppression. , 1980, Hormone research.