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

Autor(es)

Ribeiro de Andrade, Juliana Gabriel ; Marques-de-Faria, Antonia Paula ; Fabbri, Helena Campos ; de Mello, Maricilda Palandi ; Guerra-Junior, Gil ; Maciel-Guerra, Andrea Trevas

• Tipo de documento: Artigo Científico
• Fonte: INTERNATIONAL JOURNAL OF ENDOCRINOLOGY; v. 2014, p. 8-pg., 2014-01-01.

Resumo

' 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 patientswere first evaluated in the 1990s and followed up until the 2010s; followup 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. (AU)

• Processo FAPESP: 08/54776-1 - Disgenesia gonodal xy: identificacao de mutacoes nas regioes codificadora e promotora do gene sry e analise de seus efeitos na estrutura proteica e na expressao genica
• Beneficiário: Maricilda Palandi de Mello
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 11/02865-3 - Análise molecular do gene NR5A1 em pacientes 46,XY com distúrbios da diferenciação do sexo
• Beneficiário: Helena Fabbri Scallet
• Modalidade de apoio: Bolsas no Brasil - Mestrado