Disease Information for 5 alpha Reductase Deficiency Syndrome

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Clinical Manifestations
Signs & Symptoms
Genital Hypoplasia/Male
Intersex Spectrum Child
Penis, small (Micropenis)
Undescended testicles
Absent/uterus/adnexa
Inappropriate sexuality
Demographics & Risk Factors
Ethnic or Racial Factors
Dominican republic/population
New Guinea/Population
Turkish population
Family History
Family history/Parental consanguinity
Sex & Age Groups
Population/Female
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Absent Barr bodies/Buccal smear/female (Lab)
Buccal cell DNA/genome abnormal (Lab)
Diagnostic Test Results
Pathology
PATH/Karyotype XY normal
Associated Diseases & Rule outs
Associated Disease & Complications
Ambiguous genitalia/infant
Hypospadius anomaly
Infertility/sterility, female
Pseudohermaphroditism, male
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Chromosome-5 involvement
Pathophysiology/Gene locus Chromosome 2
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Hermaphrodite/congenital syndrome (ex)
Definition
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External Links Related to 5 alpha Reductase Deficiency Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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