青年起病的库欣病中岩下窦取样假阴性的后续情况
False-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.
作者信息
Maschio Cristina, Weinberg Jessica, Keil Meg, Saidkhodjaeva Lola, Chittiboina Prashant, Chang Richard, Stratakis Constantine A, Tatsi Christina
机构信息
Unit on Hypothalamic and Pituitary Disorders National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Unit on Hypothalamic and Pituitary Disorders National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA,
出版信息
Horm Res Paediatr. 2025;98(1):25-30. doi: 10.1159/000533338. Epub 2023 Dec 14.
INTRODUCTION
False-negative results during inferior petrosal sinus sampling (IPSS) may complicate the diagnostic evaluation of patients with ACTH-dependent Cushing syndrome (CS). The management of these patients can be confusing for clinicians and lead to delayed management.
METHODS
We studied patients with young-onset (<21 years old) CD who underwent IPSS during their diagnostic evaluation. For all patients, diagnosis of CD was eventually confirmed based on histologic evaluation of a resected pituitary tumor or remission after transsphenoidal surgery.
RESULTS
We recorded a rare incidence of false-negative IPSS results in 5 out of the 142 IPSS procedures (3.5%), performed in 4 unique patients. Patients with negative IPSS did not differ in demographic (age and sex) or biochemical (diurnal ACTH/cortisol or 24-hour urinary free cortisol) data from the remaining. Additional workup was performed in three of the four patients including evaluation for ectopic sources of CS and repeat IPSS. Two of these patients also received medical treatment for suppression of cortisol production. One patient decided to proceed with pituitary exploration without additional evaluation. All patients finally underwent surgery and achieved remission.
DISCUSSION/CONCLUSION: In patients with CD, IPSS may rarely lead to false-negative results. Management of these patients usually includes screening for ectopic sources of ACTH/CRH secretion, repeating IPSS if ectopic workup is negative, and considering medical management until final diagnosis of the source of hypercortisolism is made.
INTRODUCTION
False-negative results during inferior petrosal sinus sampling (IPSS) may complicate the diagnostic evaluation of patients with ACTH-dependent Cushing syndrome (CS). The management of these patients can be confusing for clinicians and lead to delayed management.
METHODS
We studied patients with young-onset (<21 years old) CD who underwent IPSS during their diagnostic evaluation. For all patients, diagnosis of CD was eventually confirmed based on histologic evaluation of a resected pituitary tumor or remission after transsphenoidal surgery.
RESULTS
We recorded a rare incidence of false-negative IPSS results in 5 out of the 142 IPSS procedures (3.5%), performed in 4 unique patients. Patients with negative IPSS did not differ in demographic (age and sex) or biochemical (diurnal ACTH/cortisol or 24-hour urinary free cortisol) data from the remaining. Additional workup was performed in three of the four patients including evaluation for ectopic sources of CS and repeat IPSS. Two of these patients also received medical treatment for suppression of cortisol production. One patient decided to proceed with pituitary exploration without additional evaluation. All patients finally underwent surgery and achieved remission.
DISCUSSION/CONCLUSION: In patients with CD, IPSS may rarely lead to false-negative results. Management of these patients usually includes screening for ectopic sources of ACTH/CRH secretion, repeating IPSS if ectopic workup is negative, and considering medical management until final diagnosis of the source of hypercortisolism is made.
引言
岩下窦采样（IPSS）过程中的假阴性结果可能会使促肾上腺皮质激素（ACTH）依赖性库欣综合征（CS）患者的诊断评估变得复杂。这些患者的管理可能会让临床医生感到困惑，并导致治疗延迟。
方法
我们研究了在诊断评估期间接受IPSS的年轻发病（<21岁）库欣病（CD）患者。对于所有患者，最终根据切除的垂体肿瘤的组织学评估或经蝶窦手术后的缓解情况确诊为CD。
结果
我们记录了142例IPSS操作中有5例（3.5%）出现罕见的假阴性IPSS结果，这5例操作是在4例不同的患者中进行的。IPSS结果为阴性的患者在人口统计学（年龄和性别）或生化指标（昼夜ACTH/皮质醇或24小时尿游离皮质醇）数据方面与其余患者没有差异。4例患者中有3例进行了进一步检查，包括评估CS的异位来源和重复IPSS。其中2例患者还接受了抑制皮质醇产生的药物治疗。1例患者决定在不进行额外评估的情况下进行垂体探查。所有患者最终都接受了手术并实现了缓解。
讨论/结论：在CD患者中，IPSS可能很少导致假阴性结果。这些患者的管理通常包括筛查ACTH/促肾上腺皮质激素释放激素（CRH）分泌的异位来源，如果异位检查结果为阴性则重复IPSS，并在最终诊断出高皮质醇血症的来源之前考虑药物治疗。
引言
岩下窦采样（IPSS）过程中的假阴性结果可能会使促肾上腺皮质激素（ACTH）依赖性库欣综合征（CS）患者的诊断评估变得复杂。这些患者的管理可能会让临床医生感到困惑，并导致治疗延迟。
方法
我们研究了在诊断评估期间接受IPSS的年轻发病（<21岁）库欣病（CD）患者。对于所有患者，最终根据切除的垂体肿瘤的组织学评估或经蝶窦手术后的缓解情况确诊为CD。
结果
我们记录了142例IPSS操作中有5例（3.5%）出现罕见的假阴性IPSS结果，这5例操作是在4例不同的患者中进行的。IPSS结果为阴性的患者在人口统计学（年龄和性别）或生化指标（昼夜ACTH/皮质醇或24小时尿游离皮质醇）数据方面与其余患者没有差异。4例患者中有3例进行了进一步检查，包括评估CS的异位来源和重复IPSS。其中2例患者还接受了抑制皮质醇产生的药物治疗。1例患者决定在不进行额外评估的情况下进行垂体探查。所有患者最终都接受了手术并实现了缓解。
讨论/结论：在CD患者中，IPSS可能很少导致假阴性结果。这些患者的管理通常包括筛查ACTH/促肾上腺皮质激素释放激素（CRH）分泌的异位来源，如果异位检查结果为阴性则重复IPSS，并在最终诊断出高皮质醇血症的来源之前考虑药物治疗。
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