Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201956
Type: Artigo de periódico
Title: Long-term Follow-up Of Patients With 46,xy Partial Gonadal Dysgenesis Reared As Males.
Author: Gabriel Ribeiro de Andrade, Juliana
Marques-de-Faria, Antonia Paula
Fabbri, Helena Campos
de Mello, Maricilda Palandi
Guerra-Júnior, Gil
Maciel-Guerra, Andréa Trevas
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.
Rights: aberto
Identifier DOI: 10.1155/2014/480724
Address: http://www.ncbi.nlm.nih.gov/pubmed/25580123
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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