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International Journal of Endocrinology
Volume 2012 (2012), Article ID 964876, 7 pages
http://dx.doi.org/10.1155/2012/964876
Research Article

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

1Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil
2Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil
3Center of Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil
4Department of Medical Genetics, Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil

Received 31 July 2011; Revised 7 October 2011; Accepted 3 November 2011

Academic Editor: Olaf Hiort

Copyright © 2012 Nélio Neves Veiga-Junior et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in the AR and SRD5A2 genes. Fifty-eight patients (51 families) were included. Age at first evaluation, weight and height at birth, consanguinity, familial recurrence, severity of AG, penile length, LH, FSH, T, dihydrotestosterone (DHT), Δ4-androstenedione (Δ4), and T/DHT and T/Δ4 ratios were evaluated. The AR and SRD5A2 genes were sequenced in all cases. There were 9 cases (7 families) of 5α-RD2, 10 cases (5 families) of PAIS, and 39 patients had normal molecular analysis of SRD5A2 and AR genes. Age at first evaluation, birth weight and height, and T/DHT ratio were lower in the undetermined group, while penile length was higher in this group. Consanguinity was more frequent and severity of AG was higher in 5α-RD2 patients. Familial recurrence was more frequent in PAIS patients. Birth weight and height, consanguinity, familial recurrence, severity of AG, penile length, and T/DHT ratio may help the investigation of 46,XY patients with AG and normal T synthesis.