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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
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 n...
Autores principales: | Çamtosun, Emine, Şıklar, Zeynep, Ceylaner, Serdar, Kocaay, Pınar, Berberoğlu, Merih |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463290/ https://www.ncbi.nlm.nih.gov/pubmed/28008861 http://dx.doi.org/10.4274/jcrpe.3839 |
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