Literature DB >> 27260338

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

Romina P Grinspon1, Julián Nevado2,3, María de Los Ángeles Mori Alvarez2,3, Graciela Del Rey4, Roberto Castera5, Marcela Venara4, Ana Chiesa4, Miguel Podestá5, Pablo Lapunzina2,3, Rodolfo A Rey6,7.   

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Year:  2016        PMID： 27260338     DOI： 10.1111/cen.13126

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  11 in total

Review 1.  Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.

Authors:  Nadia Y Edelsztein; Romina P Grinspon; Helena F Schteingart; Rodolfo A Rey
Journal:  Int J Pediatr Endocrinol       Date:  2016-10-28

2.  The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene.

Authors:  Gianna Carvalheira; Andrea M Malinverni; Mariana Moysés-Oliveira; Renata Ueta; Leonardo Cardili; Patrícia Monteagudo; Andreia L G Mathez; Ieda T Verreschi; Miguel A Maluf; Márcia E F Shida; Mila T C Leite; Diego Mazzotti; Maria Isabel Melaragno; Magnus R Dias-da-Silva
Journal:  J Endocr Soc       Date:  2019-08-28

Review 3.  Male Hypogonadism and Disorders of Sex Development.

Authors:  Romina P Grinspon; Ignacio Bergadá; Rodolfo A Rey
Journal:  Front Endocrinol (Lausanne)       Date:  2020-04-15       Impact factor: 5.555

Review 4.  Molecular Characterization of XX Maleness.

Authors:  Romina P Grinspon; Rodolfo A Rey
Journal:  Int J Mol Sci       Date:  2019-12-03       Impact factor: 5.923

5.  Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.

Authors:  Melitza S M Elizabeth; Annemieke J M H Verkerk; Anita C S Hokken-Koelega; Joost A M Verlouw; Jesús Argente; Roland Pfaeffle; Sebastian J C M M Neggers; Jenny A Visser; Laura C G de Graaff
Journal:  Pituitary       Date:  2020-11-13       Impact factor: 4.107

6.  Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.

Authors:  Shengfang Qin; Xueyan Wang; Jin Wang
Journal:  Mol Cytogenet       Date:  2022-02-14       Impact factor: 2.009

7.  Transcriptional control of human gametogenesis.

Authors:  Fang Fang; Phillip J Iaquinta; Ninuo Xia; Lei Liu; Lei Diao; Renee A Reijo Pera
Journal:  Hum Reprod Update       Date:  2022-05-02       Impact factor: 17.179

8.  The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review.

Authors:  Jianlong Zhuang; Chunnuan Chen; Jia Li; Yuying Jiang; Junyu Wang; Yuanbai Wang; Shuhong Zeng; Yiming Lin; Yingjun Xie
Journal:  Front Pediatr       Date:  2021-06-11       Impact factor: 3.418

9.  Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature.

Authors:  V Tasic; A Mitrotti; F G Riepe; A E Kulle; N Laban; M Polenakovic; D Plaseska-Karanfilska; S Sanna-Cherchi; M Kostovski; Z Gucev
Journal:  Balkan J Med Genet       Date:  2019-08-28       Impact factor: 0.519

10.  Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.

Authors:  Caiqi Du; Feiya Wang; Zhuoguang Li; Mini Zhang; Xiao Yu; Yan Liang; Xiaoping Luo
Journal:  BMC Med Genomics       Date:  2022-02-03       Impact factor: 3.063
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