GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

被引：2

作者：

Skordis N. ^{[1
,2
,3
]}

Ferrari E. ^{[2
]}

Antoniadou A. ^{[2
]}

Phylactou L.A. ^{[3
]}

Fanis P. ^{[3
]}

Neocleous V. ^{[3
]}

机构：

[1] Division of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia

[2] St George’s, University of London, Medical School at the University of Nicosia

[3] Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia

来源：

Hormones | 2017年 / 16卷 / 3期

基金：

欧盟地平线“2020”;

关键词：

47; GnRH; Precocious puberty; XXX karyotype;

D O I：

10.14310/horm.2002.1740

中图分类号：

学科分类号：

摘要：

This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis. © 2017, Hellenic Endocrine Society. All rights reserved.

引用

页码：318 / 321

页数：3

共 3 条

[1] GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype
Skordis, Nicos
Ferrari, Eleana
Antoniadou, Aria
Phylactou, Leonidas A.
Fanis, Pavlos
Neocleous, Vassos
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2017, 16 (03): : 318 - 321
[2] New genetic factors implicated in human GnRH-dependent precocious puberty: The role of kisspeptin system
Teles, Milena Gurgel
Gontijo Silveira, Leticia Ferreira
Tusset, Cintia
Latronico, Ana Claudia
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2011, 346 (1-2) : 84 - 90
[3] Irreversible increase of serum IGF-1 and IGFBP-3 levels in GnRH-dependent precocious puberty of different etiologies: Implications for the onset of puberty
Belgorosky, A
Rivarola, MA
HORMONE RESEARCH, 1998, 49 (05) : 226 - 232

← 1 →