Abstract:
:Most of the patients with 5α-RD 2 deficiency are reared in the female social sex due to their severely undervirilized external genitalia but ~60% who have not been submitted to orchiectomy in childhood undergo male social sex change at puberty. In our cohort of 30 cases from 18 families, all subjects were registered in the female social sex except for two children-one who had an affected uncle and the other who was diagnosed before being registered. The majority of the patients were satisfied with the long-term results of their treatment and surprisingly, penile length was not associated with satisfactory or unsatisfactory sexual activity. Steroid 5α-RD2 deficiency should be included in the differential diagnosis of all newborns with 46,XY DSD with normal testosterone production before gender assignment or any surgical intervention because these patients should be considered males at birth.
journal_name
Semin Reprod Medjournal_title
Seminars in reproductive medicineauthors
Costa EM,Domenice S,Sircili MH,Inacio M,Mendonca BBdoi
10.1055/s-0032-1324727subject
Has Abstractpub_date
2012-10-01 00:00:00pages
427-31issue
5eissn
1526-8004issn
1526-4564journal_volume
30pub_type
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