Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
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 Brazi...
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| Format: | Article |
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Wiley
2014-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2014/480724 |
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| author | Juliana Gabriel Ribeiro de Andrade Antonia Paula Marques-de-Faria Helena Campos Fabbri Maricilda Palandi de Mello Gil Guerra-Júnior Andréa Trevas Maciel-Guerra |
| author_facet | Juliana Gabriel Ribeiro de Andrade Antonia Paula Marques-de-Faria Helena Campos Fabbri Maricilda Palandi de Mello Gil Guerra-Júnior Andréa Trevas Maciel-Guerra |
| author_sort | Juliana Gabriel Ribeiro de Andrade |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d33df0f356824bcbb96c1a49a45c2c98 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-d33df0f356824bcbb96c1a49a45c2c982025-02-03T05:45:31ZengWileyInternational Journal of Endocrinology1687-83371687-83452014-01-01201410.1155/2014/480724480724Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as MalesJuliana Gabriel Ribeiro de Andrade0Antonia Paula Marques-de-Faria1Helena Campos Fabbri2Maricilda Palandi de Mello3Gil Guerra-Júnior4Andréa Trevas Maciel-Guerra5Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, BrazilDepartment of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, BrazilInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, BrazilInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, BrazilInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, BrazilDepartment of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, BrazilBackground/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.http://dx.doi.org/10.1155/2014/480724 |
| spellingShingle | Juliana Gabriel Ribeiro de Andrade Antonia Paula Marques-de-Faria Helena Campos Fabbri Maricilda Palandi de Mello Gil Guerra-Júnior Andréa Trevas Maciel-Guerra Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males International Journal of Endocrinology |
| title | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males |
| title_full | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males |
| title_fullStr | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males |
| title_full_unstemmed | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males |
| title_short | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males |
| title_sort | long term follow up of patients with 46 xy partial gonadal dysgenesis reared as males |
| url | http://dx.doi.org/10.1155/2014/480724 |
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