Kadiyala Sushma, Khan Yasmin, de Miguel Valeria, Frone Megan N, Nwariaku Fiemu, Rabaglia Jennifer, Woodruff Stacey, King Elizabeth E, Hathiramani Sumitha S, Pacak Karel, Ghayee Hans K
Department of Internal Medicine, Division of Endocrinology & Metabolism, University of Florida and the Malcolm Randall VA Medical Center, Gainesville, FL.
Endocrinology Unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina, MD, USA.
AACE Clin Case Rep. 2018 May-Jun;4(3):186-190. doi: 10.4158/ep172003.cr. Epub 2020 Dec 28.
Succinate dehydrogenase complex, subunit D () gene mutations are most commonly associated with head and neck paragangliomas. We describe a pair of cases with early-onset, bilateral pheochromocytoma (PCC) and paraganglioma (PGL) syndrome associated with mutation.
We describe 2 cases of hereditary, early-onset, bilateral PCC/PGL syndrome associated with mutation.
Both cases presented under the age of 30 with bilateral PCC and PGL with mutations. Case 1 is a female who was initially diagnosed with hypertension and later work-up revealed elevated norepinephrine levels. Positron emission tomography coupled with computed tomography showed avid uptake of fluorodeoxyglucose by the right adrenal gland, the organ of Zuckerkandl, and the left carotid bifurcation. Surgical resection was performed and resulted in normalization of her catecholamines. Case 2 is a male who similarly presented with hypertension and elevated norepinephrine levels. Imaging revealed head, neck, and abdominal PGL. He underwent staged adrenal-ectomies and abdominal PGL resection. Gene sequencing and deletion/duplication analysis revealed that case 1 had an exon 2 deletion in her gene and case 2 had a frameshift mutation resulting in a stop codon in exon 3 in his gene.
While mutations are primarily thought to result in silent head and neck tumors, our cases indicate that they should also be considered in the evaluation of functional, bilateral adrenal PCC in young patients.
琥珀酸脱氢酶复合物亚基D（SDHD）基因突变最常与头颈部副神经节瘤相关。我们描述了一对与SDHD突变相关的早发性双侧嗜铬细胞瘤（PCC）和副神经节瘤（PGL）综合征病例。
我们描述了2例与SDHD突变相关的遗传性早发性双侧PCC/PGL综合征病例。
两例患者均在30岁以下出现双侧PCC和PGL，并伴有SDHD突变。病例1为女性，最初被诊断为高血压，后来的检查发现去甲肾上腺素水平升高。正电子发射断层扫描结合计算机断层扫描显示右肾上腺、祖克坎德尔器和左颈动脉分叉处对氟脱氧葡萄糖摄取增加。进行了手术切除，结果她的儿茶酚胺水平恢复正常。病例2为男性，同样表现为高血压和去甲肾上腺素水平升高。影像学检查发现头、颈和腹部有PGL。他接受了分期肾上腺切除术和腹部PGL切除术。基因测序和缺失/重复分析显示，病例1的SDHD基因外显子2缺失，病例2的SDHD基因外显子3发生移码突变，导致产生一个终止密码子。
虽然SDHD突变主要被认为会导致无症状的头颈部肿瘤，但我们的病例表明，在评估年轻患者的功能性双侧肾上腺PCC时也应考虑到这些突变。
