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

Matheus Vernet Machado Bressan Wilke; Eduardo Corrêa Costa; Julio Cesar Loguercio Leite; Iara Regina Siqueira Lucena; Tatiana Prade Hemesath; Clarissa Gutierrez Carvalho; Mariluce Riegel; Guilherme Guaragna-Filho

doi:10.1016/j.urology.2021.08.018

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

Urology. 2021 Dec:158:204-207. doi: 10.1016/j.urology.2021.08.018. Epub 2021 Aug 23.

Authors

Matheus Vernet Machado Bressan Wilke¹, Eduardo Corrêa Costa², Julio Cesar Loguercio Leite³, Iara Regina Siqueira Lucena⁴, Tatiana Prade Hemesath⁵, Clarissa Gutierrez Carvalho⁶, Mariluce Riegel⁷, Guilherme Guaragna-Filho⁶

Affiliations

¹ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
² 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: [email protected].
³ 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.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ 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.

PMID: 34437894
DOI: 10.1016/j.urology.2021.08.018

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.

Publication types

Case Reports

MeSH terms

Adolescent
Gonadal Dysgenesis, Mixed / genetics*
Humans
Karyotyping
Male
Mosaicism*
Puberty / genetics*