A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.
OBJECTIVE
To describe the clinical, biological and molecular data in a large Egyptian kindred with 5alpha-reductase deficiency.


METHODS
Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing and restriction site analysis were applied for patient and family study.


RESULTS
A homozygous alanine to glutamic acid substitution at position 62 (A62E) was found in the three patients. The parents and two XX sisters were heterozygous while a third XX sibling was normal.


CONCLUSIONS
We report a new mutation of the 5alpha-reductase type 2 gene. The presence of this mutation in all studied patients and their parents suggests its causative role in 5alpha-reductase deficiency. Identification of the mutation enabled genetic counselling for three XX individuals.
Hafez
Mona
M
The National Research Center, Cairo University, Cairo, Egypt.
Mazen
Inas
I
Ghali
Isis
I
Sultan
Charles
C
Lumbroso
Serge
S
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D000409:Alanine; D019943:Amino Acid Substitution; D000728:Androgens / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D013196:Dihydrotestosterone / Q000627:therapeutic use; D004534:Egypt; D005260:Female; D005783:Gender Identity; D005835:Genitalia / Q000002:abnormalities*; D018698:Glutamic Acid; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D000728:Androgens; D013196:Dihydrotestosterone; D018698:Glutamic Acid; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; D000409:Alanine