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

Autor(es):Mostrar menos -

Veiga-Junior, Nelio Neves ; Rodrigues Medaets, Pedro Augusto ; Petroli, Reginaldo Jose ; Calais, Flavia Leme ; de Mello, Maricilda Palandi ; Telles de Sousa Castro, Carla Cristina ; Guaragna-Filho, Guilherme ; Sewaybricker, Leticia Esposito ; Marques-de-Faria, Antonia Paula ; Maciel-Guerra, Andrea Trevas ; Guerra-Junior, Gil

• Tipo de documento: Artigo Científico
• Fonte: INTERNATIONAL JOURNAL OF ENDOCRINOLOGY; v. 2012, p. 7-pg., 2012-01-01.

Resumo

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 5 alpha-reductase type 2 deficiency (5 alpha-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), Delta 4-androstenedione (Delta 4), and T/DHT and T/Delta 4 ratios were evaluated. The AR and SRD5A2 genes were sequenced in all cases. There were 9 cases (7 families) of 5 alpha-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 5 alpha-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. (AU)

• Processo FAPESP: 09/08320-9 - Investigação de mutações nos genes ar e SRD5A2 em pacientes 46,XY recém-nascidos e pré-púberes com ambiguidade genital
• Beneficiário: Maricilda Palandi de Mello
• Modalidade de apoio: Auxílio à Pesquisa - Regular