Peripheral precocious puberty: 46, XY complete gonadal dysgenesis

被引：1

作者：

Santalha, M. ^{[1
]}

Amaral, B. ^{[2
]}

Pereira, J. ^{[3
]}

Ribeiro, L. ^{[2
]}

Joao Oliveira, M. ^{[2
]}

Figueiredo, S. ^{[2
]}

Cardoso, H. ^{[2
]}

Peixoto, C. ^{[4
]}

Borges, T. ^{[2
]}

Cidade-Rodrigues, J. A. ^{[3
]}

机构：

[1] Ctr Hosp Alto Ave, Dept Pediat, Guimaraes, Portugal

[2] Ctr Hosp Porto, Unidad Endocrinol Pediat, Oporto, Portugal

[3] Ctr Hosp Porto, Dept Cirugia Pediat, Oporto, Portugal

[4] Ctr Hosp Porto, Dept Patol, Oporto, Portugal

来源：

ANALES DE PEDIATRIA | 2014年 / 81卷 / 04期

关键词：

Gonadal dysgenesis; Gonadoblastoma; Precocious puberty; GONADOBLASTOMA; DYSGERMINOMA;

D O I：

10.1016/j.anpedi.2013.09.009

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Despite standard clinical definitions and availability of diagnostic tests for precocious Precocious puberty puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G>T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma. (C) 2013 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L.U. All rights reserved.

引用

页码：246 / 250

页数：5

共 15 条

[1] Novel mutations affecting SRY DNA-binding activity:: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes [J].