Cardosa MIR, Sotelo CN

Language: Spanish
References: 20
Page: 251-256
PDF size: 92.79 Kb.

ABSTRACT

Objective. To know the incidence of congenital adrenal hyperplasia (CAH) identyfing the clinical features in the diagnosis.
Material and methods. Twenty clinical records of patients with diagnoses of CAH attended during the last 20 years in the Infant Hospital of the Sonora Mexico, were review. Clinical findings found at admission and clinical and laboratory features during treatment were obtained.
Results. In 100,433 patients attended in the hospital in 20 years the incidence rate of CAH was 1.9/10,000 patients; the ratio male/female it was 1.1/2. Sex vas indeterminate in four patients and only in 3 patients the CAH was suspect. The clinical findings were: anorexia, dehydration, genitalia ambiguous, hyporeactivity, convulsions, diarrhea, malnutrition and hypovolemic shock. The laboratory test showed hyponatremia and hyperpotassemia. The treatment was done by hydrocortisone and fluorhydrocortisone; 3 patients received surgical corrective treatment. The following of patients were at the outpatients clinic was done in 14 of them, only five patients are still following. Six were lost, four are now attended in another hospitals and five died by adrenal crises, infections, intravasculary coagulation and dehydration.
Conclusions. The diagnosis of CAH is done in few cases at admission in spit of the clinical features and the ambiguous genitalia in this children.

REFERENCES

1. Forest MG. Hiperfunción suprarrenal. En: Pombo M. (ed). Tratado de endocrinología pediátrica. 3a ed. Madrid: Mc Graw-Hill. Interamericana. 2002: 945-969.

2. Fardella BC. Hiperplasia suprarrenal congénita. Rev Chil Pediatr 2001; 72: 408-15.

3. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatrics Endocrinology Society and the European Society for Pediatric Endocrinology. J Clin Endocrinol Metab 2002; 87: 4048-93.

4. With PC, Speicer PW. Congenital adrenal hyperplasia. N Engl J Med 2003; 349: 766-8.

5. Schwitzebegel VM, Tyrrell JB, Fitzgerald P, Kaplan SL. Normal females infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Fertil Steril 1994; 62: 738-43.

6. Azziz R, Dewailly D, Owerbach D. Clinical review 56: Nonclassic adrenal hyperplasia. Current concepts. J Clin Endocrinol Metab 1994; 78: 810-5.

7. Corral CC, Vidal OM. Frecuencia de hiperplasia suprarrenal congénita y del estado de portador en el norte de Sinaloa. Estudio de casos y controles. Bol Med Hosp Infant Mex 1994; 51: 572-8.

8. Rodríguez LG, Bautista RJ, Dorantes AL. Hiperplasia adrenal congénita secundaria a deficiencia de 21-hidroxilasa. Bol Med Hosp Infant Mex 1990; 47: 562-5.

9. Rojas PG, Kably AA, Reyes CH, De la Rosa AE, Díaz AD. Hiperplasia suprarrenal congénita secundaria a deficiencia de 21-hidroxilasa. An Med Asoc Med Hosp ABC 1995; 40: 34-7.

10. Pesantes EL, López CC, Robles VC, Valencia SG, Millonte GG. Hiperplasia suprarrenal. Revisión de 10 años en el Instituto Nacional de Pediatría. Acta Pediatr Mex 2000; 21: 137-41.

11. Islas DL, Jiménez JJ, Verduzco GM. Pseudohermafroditismo femenino por hiperplasia suprarrenal congénita. Reporte de un caso. Rev Mex Pediatr 2005; 72: 74-7.

12. Martínez MMA, Hernández BJ, Ramírez RCA, Hurtado CL, Esparza LH. Hiperplasia suprarrenal congénita secundaria a deficiencia de 21-hidroxilasa. Reporte de un caso. Bol Clin Hosp Infant Edo. Son 2007; 24(1): 38-41.

13. Geller DH, Auchus RJ, Mendoca BB, Miller WL. The genetic and functional basis of isolated 17-20 Lyase deficiency. Nat Genet 1997; 17: 201-5.

14. Lin D, Black SM, Nagahama Y, Miller WL. Steroid 17 alfa hydroxylasa and 17-20 Lyase human P450C17 without direct electron transfer. J Biol Chem 1998; 273: 3128-65.

15. Therrell BL, Berenbaum SA, Manter-Kapanke V. Results screening 1.9 million Texas newborn for 21-hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 1998; 101: 583-90.

16. Khadilkar VV, Khadelkar AV, Maskati GB. Impact of availability of oral hydrocortisone on growth of children with CAH. Indian J Pediatr 2005; 72: 310-13.

17. Merke RW, Cutler GB. New approaches to the treatment of congenital adrenal hyperplasia. JAMA 1997; 277: 1073-6.

18. Levine LS, Pang S. Prenatal diagnosis and treatment of congenital adrenal hyperplasia. J Pediatr Endocrinol 1994; 7(3): 193-200.

19. Merke DP, Bomstein SR, Avila NA, Chrousos GP. NIH. Conference. Future directions in the study and management congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Inter Med 2002; 136: 320-4.

20. Miller WL. Genetic, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994; 78: 241-7.