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Cushing's syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult-a case report and literature review.

ABSTRACT: Here, we report the first adult case of pancreatic yolk sac tumor with ectopic adrenocorticotropic hormone (ACTH) syndrome. The patient was a 27-year-old woman presenting with abdominal distension, Cushingoid features, and hyperpigmentation. Endogenous Cushing's syndrome was biochemically confirmed. The ACTH level was in the normal range, which raised the suspicion of ACTH precursor-dependent disease. Elevated ACTH precursors were detected, supporting the diagnosis of ectopic ACTH syndrome. Functional imaging followed by tissue sampling revealed a pancreatic yolk sac tumor. The final diagnosis was Cushing's syndrome due to a yolk sac tumor. The patient received a steroidogenesis inhibitor and subsequent bilateral adrenalectomy for control of hypercortisolism. Her yolk sac tumor was treated with chemotherapy and targeted therapy. Cushing's syndrome secondary to a yolk sac tumor is extremely rare. This case illustrated the utility of ACTH precursor measurement in confirming an ACTH-related pathology and distinguishing an ectopic from a pituitary source for Cushing's syndrome.

SUBMITTER: Chang JYC

PROVIDER: S-EPMC10728467 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Cushing's syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult-a case report and literature review.

Chang Johnny Yau Cheung JYC Woo Chariene Shao Lin CSL Chow Wing Sun WS White Anne A Wong Ka Chung KC Tsui Po P Lee Alan Chun Hong ACH Leung Eunice Ka Hong EKH Woo Yu Cho YC Tan Kathryn Choon Beng KCB Lam Karen Siu Ling KSL Lee Chi Ho CH Lui David Tak Wai DTW

Frontiers in medicine 20231205

Here, we report the first adult case of pancreatic yolk sac tumor with ectopic adrenocorticotropic hormone (ACTH) syndrome. The patient was a 27-year-old woman presenting with abdominal distension, Cushingoid features, and hyperpigmentation. Endogenous Cushing's syndrome was biochemically confirmed. The ACTH level was in the normal range, which raised the suspicion of ACTH precursor-dependent disease. Elevated ACTH precursors were detected, supporting the diagnosis of ectopic ACTH syndrome. Func ...[more]

PMID: 38116038

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Project description:Previous studies have linked systemic glucocorticoid use with intestinal perforation. However, the association between intestinal perforation and endogenous hypercortisolism has not been well described, with only 14 previously published case reports. In this study, we investigated if intestinal perforation occurred more frequently in patients with ectopic ACTH syndrome and in those with a greater than 10-fold elevation of 24-hour urinary free cortisol level. Of 110 patients with ACTH-dependent Cushing's syndrome followed in two clinics in Canada, six cases with intestinal perforation were identified over 15 years. Age of patients ranged from 52 to 72, five females and one male, four with Cushing's disease and two with ectopic ACTH production, one from a pancreatic neuroendocrine tumor and one from medullary carcinoma of the thyroid. Five had diverticular perforation and one had intestinal perforation from a stercoral ulcer. All cases had their lower intestinal perforation when the cortisol production was high, and one patient had diverticular perforation 15 months prior to the diagnosis of Cushing's disease. As in previously reported cases, most had hypokalemia and abdominal pain with minimal or no peritoneal symptoms and this occurred during the active phase of Cushing's syndrome. Whereas all previously reported cases occurred in patients with 24-hour urinary free cortisol levels greater than 10-fold the upper limit of normal when measured and 11 of 14 patients had ectopic ACTH production, only one of our patients had this degree of hypercortisolism and four of our six patients had Cushing's disease. Similar to exogenous steroid use, patients with endogenous hypercortisolism also have a higher risk of intestinal, in particular diverticular, perforation and should be monitored closely for its occurrence with a low threshold for investigation and surgical intervention. Elective colonoscopy probably should be deferred until Cushing's syndrome is under control.

Project description:BackgroundYolk sac tumor is the most common malignant nonseminomatous germ-cell tumor in children characterized by elevated level of α-fetoprotein (AFP), accounting for 70%-80% of all cases. However, giant yolk sac tumors that involve the entire testicle may be misdiagnosed by color Doppler ultrasonography as orchitis. Therefore, we described a case of a 2-year-old pediatric patient with a giant testicular yolk sac tumor that was misdiagnosed by ultrasonography as orchitis, in order to evaluate the role of measuring AFP levels in the initial diagnosis to aid in the accuracy of the definitive diagnosis of testicular yolk sac tumor.Case presentationA 2-year-old boy received outpatient visits for unintentional swelling of the right scrotum for 7 days. Physical examination showed a rubbery swelling of the right scrotum with rejective touch. Then, the patient underwent perineal color Doppler ultrasonography in outpatient visits. The result showed a right testicle size of 29 mm × 22 mm × 20 mm with heterogeneous echogenicity and abundant blood ﬂow, supporting the initial diagnosis of orchitis. However, the initial surgeon was skeptical of the ultrasonography diagnosis. Thus, the patient was admitted to the Department of Andrology on day 2 for further serological and imaging examination. The serum AFP level on day 3 was 323.77 ng/ml. The results of CT and MRI showed a giant tumor of the right testis (26 mm × 21 mm × 29.6 mm) with multiple lymphoid hyperplasia in the inguinal region bilaterally. The patient received radical orchidectomy without lymph node dissection on day 9. The results of postoperative pathological examination confirmed giant testicular yolk sac tumor (T1N0M0S1, Stage Is) and was positive for AFP and SALL4 in immunohistochemistry staining. The patient received three courses of bleomycin-etoposide-cisplatin chemotherapy in the Department of Pediatrics after multidisciplinary team meeting on postoperative days 14, 37, and 58, respectively. During chemotherapy and follow-up, the patient's AFP and lactate dehydrogenase levels continued to decline, and eventually remained within normal range on postoperative day 84.ConclusionMeasuring the AFP level was necessary for initial diagnosis and follow-up in pediatric cases of testicular enlargement. Radical orchidectomy combined with postoperative bleomycin-etoposide-cisplatin adjuvant chemotherapy was an effective treatment strategy for pediatric giant testicular yolk sac tumors.

Project description:Abstract submitted to the Journal of clinical encodcrinology and metabolism: The molecular mechanisms responsible for the ectopic expression of the GIP receptor in the adrenal cortex of patients with GIP-dependent Cushing’s syndrome (CS) are unknown. Chronic adrenal stimulation by ACTH in Cushing’s disease (CD) or by GIP in GIP-dependent AIMAH both lead to induction of a set of genes which stimulate adrenal proliferation and steroidogenesis. The objective of this study was to compare the whole genome expression profile of adrenal glands of five cases of GIP-dependent bilateral macronodular adrenal hyperplasia with CS, one case of GIP-dependent adenoma, compared to five cases of ACTH-dependant hyperplasias (CD) and a pool of adrenals from 62 normal individuals. We used the genome-spanning Affymetrix U133 plus 2.0 microarray oligochips to identify genes differentially expressed specifically in GIP-dependent CS and which would be candidate genes implicated in the ectopic expression of the GIP receptor in the adrenal cortex. After data normalization and filtering, genes with differential expression were identified with a multi-step statistical analysis involving a student’s t-test, a filter on flags and a SAM analysis. A total of 721 probesets were thus isolated with intensity levels robustly related to the presence of a GIP-dependent hyperplasia. We performed a functional classification to further define potentially important biological processes and signaling mechanism for the formation of GIP-dependent AIMAH. Various probesets were related to metabolic processes, cell-surface and intracellular signaling, tumorigenesis, transport and transcription factors. The most relevant genes had their expression profile confirmed by real-time RT-PCR. This study reports an extensive series of potentially novel targets in the identification of the molecular mechanisms of ectopic expression of the GIP-receptor in this pathology. Keywords: Comparative genomic analysis

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Cushing's syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult-a case report and literature review.

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Cushing's syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult-a case report and literature review.

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