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...

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Опубликовано в: :J Clin Res Pediatr Endocrinol
Главные авторы: Çamtosun, Emine, Şıklar, Zeynep, Ceylaner, Serdar, Kocaay, Pınar, Berberoğlu, Merih
Формат: Artigo
Язык:Inglês
Опубликовано: Galenos Publishing 2017
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5463290/
https://ncbi.nlm.nih.gov/pubmed/28008861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3839
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