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Type: Artigo de periódico
Title: Clinical And Laboratorial Features That May Differentiate 46,xy Dsd Due To Partial Androgen Insensitivity And 5α-reductase Type 2 Deficiency.
Author: Veiga-Junior, Nélio Neves
Medaets, Pedro Augusto Rodrigues
Petroli, Reginaldo José
Calais, Flávia Leme
de Mello, Maricilda Palandi
Castro, Carla Cristina Telles de Sousa
Guaragna-Filho, Guilherme
Sewaybricker, Letícia Espósito
Marques-de-Faria, Antonia Paula
Maciel-Guerra, Andréa Trevas
Guerra-Junior, Gil
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.
Citation: International Journal Of Endocrinology. v. 2012, p. 964876, 2012.
Rights: aberto
Identifier DOI: 10.1155/2012/964876
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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