Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. [electronic resource]
- Journal of pediatric endocrinology & metabolism : JPEM May 2015
- 623-8 p. digital
Publication Type: Case Reports; Journal Article
2191-0251
10.1515/jpem-2014-0295 doi
17-Hydroxysteroid Dehydrogenases--chemistry Amino Acid Sequence Child Chromatography, High Pressure Liquid Disorder of Sex Development, 46,XY--diagnosis Female Gynecomastia--diagnosis Humans Male Molecular Sequence Data Pedigree Polymorphism, Single Nucleotide Sequence Homology, Amino Acid Steroid Metabolism, Inborn Errors--diagnosis Tandem Mass Spectrometry