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性早熟从表型到基因型

Premature thelarche from phenotype to genotype.

作者信息

Codner Ethel, Román Rossana

机构信息

Institute of Maternal and Child Research, (IDIMI), School of Medicine, University of Chile, Casilla 226-3, Santiago, Chile.

出版信息

Pediatr Endocrinol Rev. 2008 Mar;5(3):760-5.

PMID:18367996
Abstract

Premature thelarche is a benign condition, which has been described as a "variant of puberty". Early breast development is especially prevalent during the first year of life, when the gonadal axis is usually active. Ultrasensitive bioassays have described higher estrogen levels in these girls compared to controls. Some cases of premature thelarche may also exhibit increased growth velocity and/or bone age, despite prepubertal gonadotropin secretion. These cases have been labeled as exaggerated thelarche and may represent an intermediate state between benign premature thelarche and precocious puberty. Several factors have been associated with the etiology of premature thelarche, such as endocrine disruptors, and genetic and nutritional factors. Recently, it has been shown that some girls with exaggerated or fluctuating thelarche may have an activating mutation in the GNAS gene, which codifies for alpha subunit of G stimulating protein (Gsalpha). We discuss the different phenotypes that may be associated with PT and its etiology.

摘要

乳房过早发育是一种良性病症,曾被描述为“青春期的一种变体”。早期乳房发育在生命的第一年尤为普遍,此时性腺轴通常处于活跃状态。超敏生物测定法显示,与对照组相比,这些女孩体内的雌激素水平更高。尽管青春期前促性腺激素分泌正常,但一些乳房过早发育的病例也可能表现出生长速度加快和/或骨龄增加。这些病例被标记为乳房过早发育过度,可能代表了良性乳房过早发育和性早熟之间的一种中间状态。乳房过早发育的病因与多种因素有关,如内分泌干扰物、遗传和营养因素。最近的研究表明,一些乳房过早发育过度或波动的女孩可能存在GNAS基因突变,该基因编码G刺激蛋白(Gsalpha)的α亚基。我们讨论了可能与乳房过早发育及其病因相关的不同表型。

相似文献

1
Premature thelarche from phenotype to genotype.性早熟从表型到基因型
Pediatr Endocrinol Rev. 2008 Mar;5(3):760-5.
2
Activating GNAS1 gene mutations in patients with premature thelarche.性早熟患者中GNAS1基因突变激活
J Pediatr. 2004 Aug;145(2):218-22. doi: 10.1016/j.jpeds.2004.05.025.
3
Premature thelarche and central precocious puberty: the relationship between clinical presentation and the gonadotropin response to luteinizing hormone-releasing hormone.性早熟乳房过早发育与中枢性性早熟:临床表现与促性腺激素对促黄体生成素释放激素反应之间的关系
J Clin Endocrinol Metab. 1988 Sep;67(3):474-9. doi: 10.1210/jcem-67-3-474.
4
GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty.GNAS突变检测与McCune-Albright综合征和性早熟女童的疾病严重程度相关。
Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:395-400.
5
Natural history and incidence of premature thelarche in Puerto Rican girls aged 6 months to 8 years diagnosed between 1990 and 1995.1990年至1995年间诊断的6个月至8岁波多黎各女孩性早熟的自然病史和发病率。
P R Health Sci J. 2001 Mar;20(1):13-8.
6
Progression of premature thelarche to central precocious puberty.性早熟乳房过早发育进展为中枢性性早熟。
J Pediatr. 1995 Jan;126(1):11-4. doi: 10.1016/s0022-3476(95)70492-2.
7
Premature Thelarche: An Updated Review.性早熟:最新综述。
Curr Pediatr Rev. 2024;20(4):500-509. doi: 10.2174/1573396320666230726110658.
8
Breast contact thermography for differentiation between premature thelarche and true precocious puberty.乳房接触式热成像用于区分性早熟和真性性早熟。
Eur J Pediatr. 1988 May;147(4):389-91. doi: 10.1007/BF00496417.
9
Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutations.性早熟与颗粒细胞瘤:FSH受体及G5α激活突变的研究
J Pediatr Endocrinol Metab. 2002;15 Suppl 3:891-5.
10
[Premature thelarche and precocious puberty. Clinical findings and endocrinological data useful for differential diagnosis].[乳房过早发育和性早熟。有助于鉴别诊断的临床发现和内分泌学数据]
Acta Biomed Ateneo Parmense. 1981;52(2-3):153-8.

引用本文的文献

1
Premature Thelarche: An Updated Review.性早熟:最新综述。
Curr Pediatr Rev. 2024;20(4):500-509. doi: 10.2174/1573396320666230726110658.
2
Factors to predict positive results of gonadotropin releasing hormone stimulation test in girls with suspected precocious puberty.预测疑似性早熟女童促性腺激素释放激素刺激试验阳性结果的因素。
J Korean Med Sci. 2012 Feb;27(2):194-9. doi: 10.3346/jkms.2012.27.2.194. Epub 2012 Jan 27.
3
Effects of pesticides used in agriculture on the development of precocious puberty.农业中使用的农药对性早熟发展的影响。
Environ Monit Assess. 2012 Jul;184(7):4223-32. doi: 10.1007/s10661-011-2257-6. Epub 2011 Jul 30.