Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
Joint Authors
Gabriel Ribeiro de Andrade, Juliana
Marques-de-Faria, Antonia Paula
Fabbri, Helena Campos
Maciel-Guerra, Andréa Trevas
Guerra-Junior, Gil
de Mello, Maricilda Palandi
Source
International Journal of Endocrinology
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-12-14
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gabriel Ribeiro de Andrade, Juliana& Marques-de-Faria, Antonia Paula& Fabbri, Helena Campos& de Mello, Maricilda Palandi& Guerra-Junior, Gil& Maciel-Guerra, Andréa Trevas. 2014. Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. International Journal of Endocrinology،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-1036500
Modern Language Association (MLA)
Gabriel Ribeiro de Andrade, Juliana…[et al.]. Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. International Journal of Endocrinology No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-1036500
American Medical Association (AMA)
Gabriel Ribeiro de Andrade, Juliana& Marques-de-Faria, Antonia Paula& Fabbri, Helena Campos& de Mello, Maricilda Palandi& Guerra-Junior, Gil& Maciel-Guerra, Andréa Trevas. Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. International Journal of Endocrinology. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-1036500
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1036500