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Boletín Clínico de la Asociación Médica del Hospital Infantil del Estado de Sonora

2007, Number 1

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Bol Clin Hosp Infant Edo Son 2007; 24 (1)

Congenital Adrenal Hyperplasic Due to 21 Hidroxylase Defficieng. A Case Report.

Martínez-Medina MA, Hernández-Blanquel JI, Ramírez-Rodríguez CA, Cordova-Hurtado LP, Esparza-Ledesma HM

Language: Spanish
References: 21
Page: 38-41
PDF size: 89.75 Kb.


ABSTRACT

Introduction. Congenital adrenal hyperplasia (CAH) due deficiency of 21-hydroxylase (21-OH) is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Case Report. We review the case of newborn with ambiguous genitalia. At 26 days of birth, the patient had a salt-losing adrenal crisis with shock, hyponatremia, hyperkalaemia and metabolic acidosis. In the emergency department, the patient was given saline solution and glucocorticoid intravenously with improvement. The high concentration of 17-hydroxyprogesterone (17-OHP) in blood sample was diagnostic of classic 21-OH deficiency. The patient was discharged with hydrocortisone and fludrocortisone replacement. Conclusion. The 21-OH deficiency is the most common cause of ambiguous genitalia in newborn. The diagnosis and management of 21- OH are medical challenges and one opportunity of better care of infant with CAH.


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