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Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.
Wilke, Matheus Vernet Machado Bressan; Costa, Eduardo Corrêa; Leite, Julio Cesar Loguercio; Lucena, Iara Regina Siqueira; Hemesath, Tatiana Prade; Carvalho, Clarissa Gutierrez; Riegel, Mariluce; Guaragna-Filho, Guilherme.
Affiliation
  • Wilke MVMB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
  • Costa EC; Pediatric Surgery Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: eccosta@hcpa.edu.br.
  • Leite JCL; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
  • Lucena IRS; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
  • Hemesath TP; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Psychology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
  • Carvalho CG; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
  • Riegel M; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
  • Guaragna-Filho G; DSD Program, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
Urology ; 158: 204-207, 2021 12.
Article in En | MEDLINE | ID: mdl-34437894
ABSTRACT
This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia. He presented a right streak gonad, which was removed due to the risk for germ cell tumor, and a left testis with epididymis barely connected and without vas deferens. Left testis maintenance was sufficient for him to undergo spontaneous puberty. The patient was non-responsive to growth hormone. Webbed neck was the only dysmorphic feature. To the best of our knowledge, there were no similar cases reported with spontaneous pubertal progress reported in the literature.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Puberty / Gonadal Dysgenesis, Mixed / Mosaicism Limits: Adolescent / Humans / Male Language: En Journal: Urology Year: 2021 Document type: Article Affiliation country: Brazil
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Puberty / Gonadal Dysgenesis, Mixed / Mosaicism Limits: Adolescent / Humans / Male Language: En Journal: Urology Year: 2021 Document type: Article Affiliation country: Brazil