medigraphic.com
SPANISH

Revista Mexicana de Pediatría

ISSN 0035-0052 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
    • Send manuscript
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2010, Number 4

<< Back Next >>

Rev Mex Pediatr 2010; 77 (4)

(Experiences in patients of congenital adrenal hyperplasia in a Regional General Hospital

Hernández CRM
Full text How to cite this article

Language: Spanish
References: 15
Page: 143-147
PDF size: 148.71 Kb.


Key words:

Adrenal congenital hyperplasia, ambiguous genitalia, pseudoprecocious puberty, short stature, adrenal crisis, inappropriate virilization.

ABSTRACT

The congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder due to a mutation of the gen of 21-hydroxilase. In the deficiency of this enzyme the cortisol is reduced and there is an excess of androgens and low level of aldosterone. In this report a special mention of the clinical and diagnostic features in this disease is done and our experience in the management of 22 children in the last 16 years.
Conclusions. Mean time elapsing before diagnosis and mortality by CAH are greater in males than in females. Short stature is common in patients with classic congenital adrenal hyperplasia.


REFERENCES

  1. Speiser PW, White PC. Congenital Adrenal Hyperplasia [Review Article]. The New Engl J Med 2003; 349(8): 776-88.

  2. Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Phyllis W et al. Genotyping of CYP2I, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrin Metab 1999; 84(3): 960-6.

  3. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-91.

  4. Wpelfle J, Hoepffnert W, Sippel G, Bramswig J et al. Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease related complications. Clinical Endocrinology 2002; 56: 231-8.

  5. Moudiotis C, Warner J. Disorder of the adrenal cortex in childhood. Current Paediatrics 2003; 13: 120-7.

  6. Merke D, Bornstein S. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125-35.

  7. Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001; 30: 15-30.

  8. Cardosa-Martens IR, Sotelo-Cruz N. Hiperplasia suprarrenal congénita. Diagnóstico y tratamiento en 20 casos. Rev Mex Pediatr 2007; 74: 251-6.

  9. Lamberts SW, Bruining HA, de Jong FH. Corticosteroid therapy in severe illness. N Engl J Med 1997; 337: 1285-92.

  10. Merke D, Bortein S, Ávila N, Chrousos G. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxilase deficiency. Ann Intern Med 2002; 36(4): 320- 334.

  11. Jaaskelainen J, Voutilainen R. Growth of patients with 21 –hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatr Res 1997; 41: 30-3.

  12. Yu AC, Grant DB. Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood. Acta Paediatr 1995; 84: 899-903.

  13. Merke D, Gordon C. New approaches to the treatment of congenital adrenal hyperplasia. Medical Progress 1997; 277(13): 1073-6.

  14. Kovacs J, Votava F, Hcinze G, Solyom J, Lebl J, Pribilincova Z et al. Lessons from 30 years of clinical diagnosis and treatment of in five middle European countries. Congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 2954-8.

  15. Cabrera MS, Vogiatzi MG, New ML. Long term outcome in adult males with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 3070-8.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Mex Pediatr. 2010;77