女孩 LEGIUS 综合征合并中枢性性早熟：偶然关联？
Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?
机构信息
Pediatric Division, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy.
Pediatric Clinic, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
出版信息
Ital J Pediatr. 2021 Mar 4;47(1):50. doi: 10.1186/s13052-021-01004-9.
BACKGROUND
Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1).
CASE PRESENTATION
We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome.
CONCLUSIONS
We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.
背景
中枢性性早熟是一种下丘脑-垂体-性腺轴过早激活的疾病。它可能是特发性的，也可能继发于器质性原因，包括神经纤维瘤病 1 型（NF1）等综合征。
病例介绍
我们报告了一例 6 岁 10 个月大的女孩，她有近 11 处咖啡牛奶斑，没有 NF1 的其他典型临床或影像学特征，且患有中枢性性早熟。基因分析证实了 SPRED1 基因中的新变异 NM-152594.2:c.304delAp.（Thr102Argfs*19），这有助于诊断莱吉氏综合征。
结论
我们首次报告了一例莱吉氏综合征女孩患有中枢性性早熟。儿科医生应注意，对于有特征性咖啡牛奶斑的儿童，如果出现中枢性性早熟，应进行基因分析以明确诊断。需要进一步研究 RAS 相关疾病患者的青春期时间，以更好地阐明这种临床关联是偶然的还是继发于其临床状况。
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