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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.

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العنوان: 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.
المؤلفون: 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.
المصدر: Urology [Urology] 2021 Dec; Vol. 158, pp. 204-207. Date of Electronic Publication: 2021 Aug 23.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0366151 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-9995 (Electronic) Linking ISSN: 00904295 NLM ISO Abbreviation: Urology Subsets: MEDLINE
أسماء مطبوعة: Publication: New York : Elsevier Science
Original Publication: Ridgewood, N.J., Professional Medical Services Co.
مواضيع طبية MeSH: Mosaicism*, Gonadal Dysgenesis, Mixed/*genetics , Puberty/*genetics, Adolescent ; Humans ; Karyotyping ; Male
مستخلص: 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.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
تواريخ الأحداث: Date Created: 20210826 Date Completed: 20220224 Latest Revision: 20220224
رمز التحديث: 20240628
DOI: 10.1016/j.urology.2021.08.018
PMID: 34437894
قاعدة البيانات: MEDLINE
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