努南综合征患者青春期发育和性腺功能异常。
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
机构信息
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
出版信息
Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023.
BACKGROUND
Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.
METHODS
In this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.
CONCLUSIONS
According to the literature and to our experience, NS patients seem to have a delay in puberty onset compared to the physiological timing reported in healthy children. Males with NS seem to be at risk of gonadal dysfunction secondary not only to cryptorchidism but also to other underlying developmental factors including the MAP/MAPK pathway and genetics. Long-term data on a large cohort of males and females with NS are needed to better understand the impact of delayed puberty on adult height, metabolic profile and well-being. The role of genetic counselling and fertility related-issues is crucial.
背景
努南综合征（Noonan syndrome，NS）是一种遗传的多系统疾病，其特征是表现多样，包括面部畸形特征、身材矮小、先天性心脏病、肾脏异常、淋巴管畸形、胸廓畸形、男性隐睾等。
方法
在本叙述性综述中，我们总结了 NS 患者青春期和性腺功能的现有数据，以及 RAS/丝裂原活化蛋白激酶（mitogen-activated protein kinase，MAPK）信号通路在生育中的作用。此外，我们还报告了我们在 NS 患者青春期发育和垂直传播方面的个人经验。
结论
根据文献和我们的经验，与健康儿童报告的生理时间相比，NS 患者的青春期似乎延迟。NS 男性不仅存在隐睾，还存在其他潜在的发育因素，包括 MAP/MAPK 通路和遗传因素，因此可能存在性腺功能障碍的风险。需要对大量 NS 男性和女性进行长期数据研究，以更好地了解青春期延迟对成年身高、代谢特征和健康的影响。遗传咨询和与生育相关问题的作用至关重要。
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