Preferred Sample Type
Suitable Specimen Types
- Serum
- Li Hep Plasma
Specimen Transport
First class postSample Processing in Laboratory
UsualSample Preparation
Spin specimen and separate serum/plasma, ideally at least 0.5ml serum/plasma needed for analysisTurnaround Time
1 batch per monthSample Stability
Store separated serum at 4 ºCDihydrotestosterone
General Information
Patients presenting with 46XY karyotype and female genitalia may lack the enzyme testosterone 5 alpha-reductase. This enzyme activity is required for full masculinisation of the external genitalia during intrauterine life. At puberty, virulization of affected subjects (often brought up as girls) may occur. 5-alpha-reductase deficiency can be diagnosed after puberty by measurement of testosterone and 5-alpha-dihydrotestosterone concentrations in the same serum sample. Before puberty, stimulation of androgen production with hCG is usually required to acheive concentrations that can be measured with the precision necessary for accurate diagnosis.
Patient Preparation
This may be required if test is combined with an hCG stimulation test. Protocol from relevant Ref Lab is required to enable interpretation of results.
Notes
None
Reference Range
Provided by reference laboratory
Specifications
- EQA Scheme?: No
- EQA Status: No EQA scheme available