5-Alpha Reductase Deficiency - An Uncommon Disorder of Sexual Development: A Case Study of Four Turkish Patients within a Family

The definitive diagnosis of SRD5A2 deficiency requires molecular testing, but it is currently not available in some centers. Therefore, clinical phenotype and biochemical screening, especially the T/DHT ratio, should be used for evaluating this hereditary syndrome. However, we must consider that the diagnostic sensitivity of the stimulated T/DHT ratio can be affected by various factors, such as age, ethnicity, or the presence of residual enzyme activity.