title: Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.
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.
authors.affiliation: Interdisciplinary 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.
authors.forename: Nélio Neves
authors.initials: NN
authors.lastname: Veiga-Junior
authors.forename: Pedro Augusto Rodrigues
authors.initials: PA
authors.lastname: Medaets
authors.forename: Reginaldo José
authors.initials: RJ
authors.lastname: Petroli
authors.forename: Flávia Leme
authors.initials: FL
authors.lastname: Calais
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: de Mello
authors.forename: Carla Cristina Telles de Sousa
authors.initials: CC
authors.lastname: Castro
authors.forename: Guilherme
authors.initials: G
authors.lastname: Guaragna-Filho
authors.forename: Letícia Espósito
authors.initials: LE
authors.lastname: Sewaybricker
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior