DSD Due to 5 alpha-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome

Author(s)

Costa, Elaine M. F. ^{[1, 2]} ; Domenice, Sorahia ^[2] ; Sircili, Maria Helena ^[2] ; Inacio, Marlene ^[2] ; Mendonca, Berenice B. ^[2]

Affiliation

^[1] Univ Sao Paulo, Hosp Clin, Div Endocrinol, Sch Med, FMUSP, BR-01060970 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med, Div Endocrinol Unit, Hormone & Mol Genet Lab, BR-01060970 Sao Paulo - Brazil

• Document type: Journal article
• Source: SEMINARS IN REPRODUCTIVE MEDICINE; v. 30, n. 5, p. 427-431, SEP 2012.
• Web of Science Citations: 22

Abstract

Most of the patients with 5 alpha-RD 2 deficiency are reared in the female social sex due to their severely undervirilized external genitalia but similar to 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 5 alpha-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. (AU)

• FAPESP's process: 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development
• Grantee: Ana Claudia Latronico Xavier
• Support Opportunities: Research Projects - Thematic Grants