Endocrine Abstracts

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...