Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002063 (alkalosis)
 2,286 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case report of a 43 years old phaenotypic female (karyotype 46 XY) with congenital adrenal hyperplasia and male pseudohermaphroditism presenting with severe hypertension and hypokalaemic alkalosis. Evaluation of the steroid biosynthesis of the adrenals as well as of the intraabdominal testes demonstrated a severe degree of 17-alpha-hydroxylase deficiency in this patient. This defect was associated by a complete lack of deoxycortisol and cortisol as well as of testicular testosterone synthesis, and by an overproduction of DOC and corticosterone. Sruvival of the patient in spite of severe cortisol deficiency was due to the glucocorticoid activity of corticosterone. This compound and DOC account also -- due to their mineralocorticoid properties -- for the hypertensive state of this male pseudohermaphrodite.
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PMID:Hypergonadotrophic male pseudohermaphroditism due to complete 17-alpha-hyroxylase deficiency. 91 71