Hypophysitis is rarely reported in patients receiving pembrolizumab-only immunotherapies. Since the clinical presentation is usually as isolated adrenocorticotrophic hormone (ACTH) deficiency, patients may be misjudged as having clinical symptoms due to cancer or chemotherapy. A 49-year-old male with laryngeal cancer applied to our clinic just after the tenth cycle of his pembrolizumab treatment, with weakness and nausea/vomiting. Serum morning cortisol and ACTH were 0.47 mcg/dl and 10.1 pg/ml, respectively; the remaining anterior pituitary hormone levels were normal. Pituitary MRI revealed mild glandular enlargement and loss of posterior pituitary bright-spot. All symptoms and signs improved with low-dose prednisolone. This is the second reported case of pembolizumab-associated isolated ACTH deficiency having abnormal pituitary MRI findings as we have reviewed all reported cases in the literature.
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http://dx.doi.org/10.2217/imt-2021-0061 | DOI Listing |
Lab Med
January 2025
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
We report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis of dihydropyrimidinase (DPYS) deficiency was suspected following the analysis of urine for organic acid; DPYS deficiency was strongly suggested by the presence of dihydrouracil, thymine, and uracil. Subsequent genetic evaluation by whole exome sequencing revealed 2 separate mutations, homozygous pathogenic variant c.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2023
Department of Paediatric Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, United Kingdom.
Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids, mineralocorticoids and androgens. These may be associated with other hormone deficiencies. Adrenal insufficiency may be primary, affecting the adrenal gland's ability to produce cortisol directly; secondary, affecting the pituitary gland's ability to produce adrenocorticotrophic hormone (ACTH); or tertiary, affecting corticotrophin-releasing hormone (CRH) production at the level of the hypothalamus.
View Article and Find Full Text PDFArch Med Res
December 2023
Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. Electronic address:
Cushing's disease (CD) is a life-threatening condition with a challenging diagnostic process and scarce treatment options. CD is caused by usually benign adrenocorticotrophic hormone (ACTH)-secreting pituitary neuroendocrine tumors (PitNETs), known as corticotropinomas. These tumors are predominantly of sporadic origin, and usually derive from the monoclonal expansion of a mutated cell.
View Article and Find Full Text PDFExp Clin Endocrinol Diabetes
October 2023
Jining No 1 People's Hospital, Jining, China.
Idiopathic isolated adrenocorticotrophic hormone deficiency (IIAD) is rare, with high clinical omission and misdiagnosis rates. This study retrospectively collected information on clinical presentation, laboratory findings, and treatment response of 17 patients with IIAD at Jining No. 1 People's Hospital from January 2014 to December 2022.
View Article and Find Full Text PDFAutoimmun Rev
September 2023
Institute of Endocrinology, Chaim Sheba Medical Center, Tel Hashomer, Israel; Institute of Oncology, Chaim Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Objective: We aimed to characterize cancer patients who developed isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) after treatment with checkpoint-inhibitors (CPIs), including clinical manifestations, laboratory findings and risk factors, and to evaluate the prognostic significance of this complication.
Design: A retrospective case-control study.
Methods: We conducted a retrospective analysis of 2225 cancer patients treated with CPIs between 2015 and 2021 in our institute.
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