OBJECTIVE Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson Syndrome (PS) and Kearns-Sayre Syndrome (KSS), are systemic diseases with multiple endocrine abnormalities. The adrenocortical function has not been systematically investigated with a few anecdotal reports of overt adrenal insufficiency (AI). The study aimed to assess the adrenocortical function in a large cohort of SLSMDs. DESIGN AND METHODS A retrospective monocentric longitudinal study involved a cohort of 18 SLSMDs patients. Adrenocortical function was evaluated by baseline adrenocorticotrophic hormone (ACTH) and cortisol measurements and by high- (HDT) and low-dose (LDT) ACTH stimulation tests and compared with 92 healthy controls (HC). RESULTS Baseline adrenocortical function was impaired in 39% of patients and by the end of the study, 66% of PS and 25% of KSS showed an insufficient increase after ACTH stimulation, with cortisol deficiency due to primary AI in most PS and subclinical AI in KSS. Symptomatic AI was recorded in 44% of patients. Peak cortisol levels after ACTH stimulation tests were significantly lower in patients than in HC (P < .0001), with a more reduced response to LDT vs HDT (P < .05). CONCLUSIONS Our study highlights that cortisol deficiency due to primary AI represents a relevant part of the clinical spectrum in SLSMDs, with more severe impairment in PS than in KSS. Basal and after-stimulus assessment of adrenocortical axis should be early and regularly investigated to identify any degree of adrenocortical dysfunction. The study allowed the elaboration of a diagnostic process designed for the diagnosis, treatment, and follow-up of adrenocortical abnormalities in SLSMDs.

中文翻译：

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单一大规模线粒体 DNA 缺失患者的肾上腺皮质功能：一项回顾性单中心队列研究。

目的 单大规模线粒体 DNA 缺失 (SLSMD)、皮尔逊综合征 (PS) 和卡恩斯-塞尔综合征 (KSS) 是伴有多种内分泌异常的全身性疾病。肾上腺皮质功能尚未得到系统研究，仅有一些明显肾上腺功能不全 (AI) 的轶事报道。该研究旨在评估一大群 SLSMD 的肾上腺皮质功能。设计和方法 一项回顾性单中心纵向研究涉及 18 名 SLSMD 患者。通过基线促肾上腺皮质激素 (ACTH) 和皮质醇测量以及高 (HDT) 和低剂量 (LDT) ACTH 刺激试验来评估肾上腺皮质功能，并与 92 名健康对照 (HC) 进行比较。结果 39% 的患者基线肾上腺皮质功能受损，到研究结束时，66% 的 PS 和 25% KSS 在 ACTH 刺激后表现出不足的增加，大多数 PS 中由于原发性 AI 和亚临床 AI 导致皮质醇缺乏。 KSS。44% 的患者出现有症状的 AI。患者在 ACTH 刺激试验后的峰值皮质醇水平显着低于 HC (P < .0001)，与 HDT 相比，LDT 的反应更降低 (P < .05)。结论 我们的研究强调，原发性 AI 引起的皮质醇缺乏代表了 SLSMD 临床谱的相关部分，PS 中的损害比 KSS 中更严重。应尽早并定期检查肾上腺皮质轴的基础和刺激后评估，以识别任何程度的肾上腺皮质功能障碍。该研究详细阐述了为 SLSMD 肾上腺皮质异常的诊断、治疗和随访而设计的诊断过程。