title: Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.
abstract: Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from -1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil ; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil.
authors.forename: Juliana
authors.identifier: 0000-0003-1434-9994
authors.initials: J
authors.lastname: Gabriel Ribeiro de Andrade
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil ; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil.
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.affiliation: Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil ; Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas, Campinas, SP, Brazil.
authors.forename: Helena Campos
authors.initials: HC
authors.lastname: Fabbri
authors.affiliation: Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil ; Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas, Campinas, SP, Brazil.
authors.forename: Maricilda Palandi
authors.identifier: 0000-0003-0521-9100
authors.initials: MP
authors.lastname: de Mello
authors.affiliation: Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil ; Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.
authors.forename: Gil
authors.identifier: 0000-0002-2991-7678
authors.initials: G
authors.lastname: Guerra-Júnior
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil ; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil.
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra