Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A...
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
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Publisher
Turkey: Galenos Yayinevi Tic. Ltd
Journal title
Language
English
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Publication information
Publisher
Turkey: Galenos Yayinevi Tic. Ltd
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Scope and Contents
Contents
17-hydroxylase/17,20-lyase deficiency (17-OHD), a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics and frequently associated with hypertension and hypokalemia. Here, we report a 46,XY case who had normal potassium levels and no hypertension. Our patient was a 2.5-year-old fem...
Alternative Titles
Full title
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5463290
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5463290
Other Identifiers
ISSN
1308-5727
E-ISSN
1308-5735
DOI
10.4274/jcrpe.3839
