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International Journal of Endocrinology
Volume 2014 (2014), Article ID 480724, 8 pages
Clinical Study

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

1Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil
2Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil
3Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas, Campinas, SP, Brazil
4Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil

Received 22 July 2014; Revised 31 October 2014; Accepted 28 November 2014; Published 14 December 2014

Academic Editor: Muhammad Shahab

Copyright © 2014 Juliana Gabriel Ribeiro de Andrade 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.


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.