Neuroendocrine Research Laboratory, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Division of Endocrine and Metabolic Diseases, Ospedale San Luca, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Endocrine. 2018 May;60(2):348-354. doi: 10.1007/s12020-018-1562-z. Epub 2018 Mar 23.
Beta-thalassemia major is a severe, congenital hematological disorder and, if untreated, leads to early mortality. Progress in therapeutical strategies improved clinical outcomes and life expectancy; however, increased survival led to the development of new disorders, including endocrinopathies. Little is known on the possible impairment of adrenocortical function, a potentially life-threatening condition, in long-term thalassaemic survivors. We therefore decided to assess adrenal reserve and the value of salivary cortisol during ACTH stimulation in the diagnosis of adrenocortical insufficiency in adult patients with β-thalassemia major.
Cross-sectional study including 72 adults with β-thalassemia major. Patients were tested with 1 µg ACTH for serum and salivary cortisol.
Subnormal serum cortisol responses to ACTH stimulation (i.e., <500 nmol/l) were registered in 15 out of 72 patients. Salivary cortisol increased in parallel with serum cortisol and a clear-cut positive correlation was detected at each timepoint. Moreover, peak salivary cortisol values after ACTH stimulation were significantly lower in patients with impaired adrenal reserve (513.6 ± 52.33 vs. 914.1 ± 44.04 nmol/l p < 0.0001).
Our results attest to the need for testing for adrenal insufficiency among adult thalassaemic patients, as up to 20% presented impaired adrenal reserve. Salivary and serum cortisol levels during stimulation with ACTH were closely correlated and the use of salivary cortisol sampling during ACTH testing may represent a surrogate to serum cortisol in these patients.
重型β地中海贫血是一种严重的先天性血液疾病,如果不进行治疗,会导致早期死亡。治疗策略的进步改善了临床结果和预期寿命;然而,生存时间的延长导致了新的疾病的发展,包括内分泌疾病。对于长期生存的β地中海贫血患者,其肾上腺皮质功能(一种潜在的危及生命的疾病)可能受到损害,目前人们对此知之甚少。因此,我们决定评估长期生存的β地中海贫血患者的肾上腺储备,并在 ACTH 刺激下检测唾液皮质醇在诊断肾上腺皮质功能不全方面的价值。
这项横断面研究纳入了 72 名β地中海贫血成年患者。患者接受了 1μg ACTH 刺激的血清和唾液皮质醇检测。
在 72 名患者中,有 15 名患者的血清皮质醇对 ACTH 刺激的反应异常(即<500nmol/l)。唾液皮质醇与血清皮质醇平行增加,在每个时间点都检测到明显的正相关。此外,在肾上腺储备受损的患者中,ACTH 刺激后的唾液皮质醇峰值明显较低(513.6±52.33 vs. 914.1±44.04nmol/l,p<0.0001)。
我们的研究结果表明,需要对成年地中海贫血患者进行肾上腺功能不全的检测,因为多达 20%的患者存在肾上腺储备受损。ACTH 刺激时唾液和血清皮质醇水平密切相关,在这些患者中,使用 ACTH 检测时的唾液皮质醇采样可以作为血清皮质醇的替代物。