UNASSIGNED: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing pancreatic neuroendocrine carcinoma is exceedingly rare in MEN1.
UNASSIGNED: This report details a Colombian family harboring a novel MEN1 variant identified through genetic screening initiated by the index case. Affected family members exhibited primary hyperparathyroidism (PHPT) symptoms from their 20s to 50s. Uniquely, the index case developed an ACTH-secreting pancreatic neuroendocrine carcinoma, a rarity in MEN1 syndromes. Proactive screening enabled the early detection of pituitary neuroendocrine tumors (PitNETs) as microadenomas in two carriers, with subsequent surgical or pharmacological intervention based on the clinical presentation.
UNASSIGNED: Our findings underscore the significance of cascade screening in facilitating the early diagnosis and individualized treatment of MEN1, contributing to better patient outcomes. Additionally, this study brings to light a novel presentation of ACTH-producing pancreatic neuroendocrine carcinoma within the MEN1 spectrum, expanding our understanding of the disease\'s manifestations.

BACKGROUND: Adverse events of secondary adrenal insufficiency caused by anti-PD-1 immune agents are relatively rare in clinical practice, so in this article, we retrospectively analyzed three patients who suffered secondary adrenal cortex dysfunction caused by tislelizumab immunotherapy for Non-Small Cell Lung Cancer (NSCLC)and reviewed the literature. This rare immune-related adverse event was investigated by summarizing the clinical features of the patients.
METHODS: We reported three NSCLC patients who suffered secondary adrenal cortex dysfunction induced by tislelizumab immunotherapy at our hospital from July 2021 to October 2023. We analyzed and summarized the clinical characteristic, laboratory examination, pathological staging, etc. We also reviewed related literature of pituitary inflammation and adrenal cortex dysfunction caused by immunotherapy.
RESULTS: The median age of the three patients was 56 years. All the patients had a history of smoking. After receiving tislelizumab treatment (median cycle: 7), laboratory examination showed a decrease in morning cortisol and adrenocorticotropic hormone (ACTH), both were diagnosed with secondary adrenal insufficiency. Only one patient had symptoms of fatigue, vomiting, and weight loss. One of these patients also had simultaneous subclinical hypothyroidism. All three patients discontinued immunotherapy and received replacement therapy with glucocorticoids. At the last follow-up, none of the three patients restarted immunotherapy, because cortisol did not return to normal. This is similar to that of previous reports.
CONCLUSIONS: Based on previous reports and our three cases, when laboratory tests of NSCLC patients receiving immunotherapy showed a decrease in morning cortisol and ACTH levels, especially when clinical symptoms were obvious, the possibility of immunotherapy-related pituitary inflammation causing secondary adrenal cortex dysfunction should be considered. Prompt monitoring and hormone replacement therapy should be provided to prevent adrenal crises.

库欣综合征的主要病因包括促肾上腺皮质激素（ACTH）依赖性和ACTH非依赖性。当ACTH非依赖性库欣综合征合并双侧肾上腺肿瘤时，术前的病因鉴别至关重要。本文通过对1例68Ga-Pentixafor PET/CT辅助定位的库欣综合征伴双侧肾上腺肿瘤患者的诊治过程及临床特点进行总结，并对其诊治关键点进行讨论，为库欣综合征伴双侧肾上腺肿瘤患者的临床诊治提供借鉴。.

BACKGROUND: TSH and ACTH are crucial hormones for diagnosing thyroid and adrenal diseases, and incorrect test reports can cause significant harm to patients.
METHODS: The TSH and ACTH levels on the testing system of our laboratory were measured using \"sandwich\" assays. The patient had heterophilic antibodies in their body, causing a false increase in TSH and ACTH levels.
RESULTS: TSH on the Abbott platform was 59.7 μIU/mL and on the Roche platform it was 4.33 μIU/mL. After pretreatment with HBR it was 3.95 μIU/mL; ACTH on the SIEMENS platform was 263.5 pg/mL, on the Abbott platform it was 47.6 pg/mL. After pretreatment with HBR it was 36.5 pg/mL.
CONCLUSIONS: The patient\'s serum contains heterophilic antibodies, which interfere with the TSH and ACTH tested by this method.

BACKGROUND: Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS).
METHODS: We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events.
RESULTS: The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs.
CONCLUSIONS: ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.

We report a 1-year-7-month-old boy with West syndrome who had associated secondary adrenal insufficiency as a side effect of synthetic ACTH therapy. Serial investigation using corticotropin-releasing hormone (CRH) stimulation tests revealed the time course of his hypothalamic-pituitary-adrenal (HPA) axis recovery after the secondary adrenal insufficiency. Three days after completion of the ACTH therapy, the basal cortisol, peak cortisol, and peak ACTH levels were all low. One month after ACTH therapy, the basal cortisol level exceeded the cutoff level for intact adrenocortical function, and the peak ACTH level had improved. Five months after ACTH therapy, the peak cortisol level exceeded the cutoff level for intact adrenocortical function. The secondary adrenal insufficiency after ACTH therapy and the four months\' time lag between the recovery timing of the basal and peak cortisol levels on CRH stimulation tests were notable findings. This follow-up data is valuable information for understanding the timeline for the process of recovery of the HPA axis from secondary adrenal insufficiency, that should lead to appropriate protocols for adrenal testing and adrenocorticosteroid replacement for patients who have undergone ACTH therapy. We also reviewed previous studies on secondary adrenal insufficiency after ACTH therapy in terms of incidence rate, onset risk factors, and recovery from it. Based on our own experience and previous reports, we suggest secondary adrenal insufficiency after ACTH therapy as follows: regarding the total synthetic ACTH dose administered, approximately 0.2 mg/kg of ACTH could cause secondary adrenal insufficiency. As for the required period for convalescence from secondary adrenal insufficiency, it would take from two to five months.

Ectopic ACTH-secreting pheochromocytoma is a very rare cause of Cushing´s syndrome, posing diagnostic and therapeutic challenges. We here report the case of a female patient with suspected severe Cushing´s syndrome associated with melanoderma, arterial hypertension resistant to triple therapy and unbalanced diabetes treated with insulin therapy. Biologically, urinary ethoxylated, 24-hour urinary free cortisol and ACTH were very high. Imaging showed a 3.5 cm left adrenal mass. The patient underwent left adrenalectomy after medical preparation, with good clinico-biological outcome. Anatomopathological examination confirmed the diagnosis of pheochromocytoma. This case study highlights the importance of measuring methoxylated derivatives in any patient with ACTH-dependent Cushing´s syndrome associated with an adrenal mass. The aim is to ensure early treatment and avoid life-threatening complications.

UNASSIGNED: Cushing\'s syndrome (CS) during pregnancy is a rare endocrine disorder characterized by hypercortisolism, which is significantly associated with maternal-fetal complications. Despite its rarity, CS during pregnancy may be related to a high risk of complications for both the mother and fetus.The aim of the present case study is to update the diagnostic approach to CS during pregnancy and the therapeutic strategies for this medical condition to minimize maternal-fetal complications.
UNASSIGNED: Here, we present two cases of CS in pregnant women, one of whom had twins. Typical clinical symptoms and signs of hypercortisolism developed at the beginning of pregnancy. The plasma cortisol diurnal rhythm of the pregnant patient was absent. CS was confirmed by cortisol and adrenocorticotropic hormone (ACTH) assessment, as well as imaging examination. We investigated the changes in the hypothalamic-pituitary-adrenal axis during normal pregnancy and the etiology, diagnosis and treatment of CS during pregnancy.
UNASSIGNED: Due to the associated risks of laparoscopic adrenalectomy,it is uncertain whether this treatment significantly decreases overall maternal mortality. Additional observational research and validation through randomized controlled trials (RCTs) are required. We advise that CS in pregnant women be diagnosed and treated by experienced teams in relevant departments and medical centers.

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BACKGROUND: The use of immune checkpoint inhibitors (ICIs) is gradually increasing; ICIs produce a variety of immune-related adverse events (irAEs), especially ICI-induced hypoadrenocorticism, which can be a lethal complication if treatment is delayed.
METHODS: A 63-year-old man received chemotherapy with pembrolizumab for nonsmall cell lung cancer. He developed drug-induced interstitial pneumonia 366 days after receiving pembrolizumab and was treated with prednisolone. Five hundred thirty-seven days later, he developed drug-induced eosinophilic enteritis, and pembrolizumab was discontinued and prednisolone was continued. After discontinuation of prednisolone, general malaise and edema of the lower extremities appeared, and adrenal insufficiency was suspected.
METHODS: In blood tests on admission adrenocorticotropic hormone (ACTH) was 2.2 pg/mL and cortisol was 15 μg/dL, with no apparent cortisol deficiency. However, the cortisol circadian rhythm disappeared and remained low throughout the day; a corticotropin-releasing hormone stimulation test showed decreased reactive secretion of ACTH. Pituitary magnetic resonance imaging showed pituitary emptying, suggesting Empty Sella syndrome.
RESULTS: We started hydrocortisone and his symptoms were improved.
CONCLUSIONS: The administration of high-dose steroids after ICI administration may mask the symptoms of hypoadrenocorticism as irAEs. Therefore, we should bear in mind the possibility of hypoadrenocorticism when we stop steroid therapy in patients who are treated with steroids after ICI administration.