Genetic testing for a patient with suspected 3 beta-hydroxysteroid dehydrogenase deficiency: a case of unreported genetic variants

HIGHLIGHTS

• who: Elisa Menegatti et al. from the Division of Medical Genetics, Azienda Ospedaliera Cittu00e0 della Salute e della Scienza, University of Turin, Turin, Italy have published the article: Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants, in the Journal: (JOURNAL)
• what: The authors report the case of a patient (46XY) showing salt loss and incomplete masculinization markedly elevated levels of 17OHP (17 hydroxyprogesterone) ACTH (Adreno Cortico Tropic Hormone) testosterone and delta4androstenedione (delta4A) low levels of cortisol and absence of bone skeletal alterations that frequently characterize . . .
  

   

  

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