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

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 te...

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Bibliographic Details
Published in:Urology (Ridgewood, N.J.) N.J.), 2021-12, Vol.158, p.204-207
Main Authors: 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
Format: Article
Language:English
Subjects:
Adolescent
Gonadal Dysgenesis, Mixed - genetics
Humans
Karyotyping
Male
Mosaicism
Puberty - genetics
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Summary: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.
ISSN:0090-4295
1527-9995
DOI:10.1016/j.urology.2021.08.018