A retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca\' Granda Ospedale Maggiore Policlinico.
We found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years.
Thyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance.
方法:对19例(13例成人和6例儿童)PHTS患者进行回顾性分析,全部通过基因检测证实,从2015年到2021年在FondazioneIRCCSCa\'GrandaOspedaleMaggiorePoliclinico上观察到。
结果:我们发现12例成人患者(92%)有甲状腺受累:11例患者有良性病变(85%),其余患者发展为滤泡性甲状腺癌(8.3%)。首次记录时的中位年龄为30岁。良性病变中,多结节性甲状腺肿是观察到的最多发现(10/11,91%)。6名儿科患者中只有1名(16%)在8岁时被诊断出患有甲状腺病变(轻度淋巴细胞性甲状腺炎的单灶性病变)。
结论:甲状腺疾病影响了几乎所有成年PHTS患者,但儿科患者的比例要低得多。我们讨论甲状腺受累的自然史,PHTS临床发病年龄,优化监控