[Congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. A case report].
The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11beta-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.
Wrodzony przerost nadnerczy wywołany niedoborem11b-hydroksylazy. Opis przypadku. szymczak@kom-net.pl
Jadwiga
J
Szymczak
Anna
A
Bohdanowicz-Pawlak
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000628:therapy*; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D013252:Steroid 11-beta-Hydroxylase / Q000097:blood
D015415:Biomarkers; D013252:Steroid 11-beta-Hydroxylase