JCEM case reports最新文献

Struma ovarii (SO) is a rare subtype of ovarian teratoma composed of more than 50% thyroid tissue. Extraovarian spread of SO, called peritoneal strumosis, was previously considered benign given the lack of histological malignant features. However, the 2020 World Health Organization Classification of Female Genital Tumors reclassified peritoneal strumosis as highly differentiated follicular carcinoma of ovarian origin (HDFCO), highlighting its low-grade malignant potential. We present a 38-year-old woman with SO treated initially with right salpingo-oophorectomy, with recurrence 2 years later with multifocal metastatic lesions in the abdomen and pelvis that was successfully treated with surgical resection, total thyroidectomy, and 157 mCi of I-131. Tumor molecular testing revealed a pathogenic DICER1 variant (c.5428G>T, exon 25). A second variant (c.319delins13, exon 4) was of uncertain significance. Germline testing confirmed the second DICER1 variant and also identified an increased risk variant in the APC gene (c.3920T>A). This is a rare case of extensive HFDCO with DICER1 variants, which has been associated with thyroid cancer. Given the germline DICER1 variant, this may also represent the first reported instance of DICER1 syndrome manifesting as HDFCO. Further research into the prognostic factors and optimal treatment of HFDCO is needed.

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the glucokinase (GCK) gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course. We present a familial case report of mild CHI caused by a novel variant, c.212T > C (p.Val71Ala), in the GCK gene in a 41-year-old mother and a 15-year-old daughter. The clinical picture of hypoglycemia in the patients was not pronounced, which makes this clinical case remarkable. Moreover, a variant of uncertain clinical significance, с.1903G > A (p.Ala635Thr), in the ABCC8 gene was detected, which may also have contributed to the course of the disease in these patients.

Tyrosine kinase inhibitors (TKIs) are being used more regularly in treatment regimens for pediatric cancers. They have distinct side effect profiles, including endocrinopathies. Here we present a 2-year-old boy with Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (ALL) who developed refractory hypoglycemia after using dasatinib. His evaluation was suggestive of hyperinsulinism, and his symptoms were ultimately controlled with diazoxide. There have not been any published data exploring the relationship between TKIs and glycemic profiles in pediatric patients. In adults, there is research indicating that patients using TKIs could experience both hyperglycemia and hypoglycemia. The pathophysiology of these side effects is not well described, nor are the risk factors for development. More research is needed to understand these relationships in general, but particularly in the pediatric population.

Hypertrophic osteoarthropathy (HOA: MIM 167100)) is classified into primary and secondary types. Primary HOA, also known as pachydermoperiostosis (PDP), is a rare genetic condition with distinct clinical features including digital clubbing, skin thickening, and periostosis. Secondary HOA often occurs as a paraneoplastic syndrome or is associated with systemic diseases. In this report, we present a 17-year-old male patient who initially presented with significant digital clubbing, enlarged hands and feet, and excessive sweating. Although the initial suspected diagnosis was acromegaly, the patient's plasma level of insulin-like growth factor 1 was normal and growth hormone levels suppressed to <1 ng/dL following oral glucose tolerance test. Whole exome sequencing followed by Sanger sequencing of leukocyte deoxyribonucleic acid revealed a novel splicing variant in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene (NM_000860.6: c.662 + 5_662 + 8del). Reverse transcription polymerase chain reaction confirmed that this variant led to defective splicing with skipping of exon 6, a frameshift, and truncation at codon 13 of exon 7 downstream. His symptoms did not respond well to nonsteroidal anti-inflammatory drugs but showed excellent response to a trial of lanreotide autogel that has been used for about 1 year.

Sodium/glucose co-transporter 2 (SGLT2) inhibitors are a frequently used medication for patients with type 2 diabetes, congestive heart failure (CHF), and chronic kidney disease. We present a 47-year-old patient with past medical history of type 2 diabetes and CHF who was initiated on empagliflozin and subsequently developed muscle pain and weakness. Evaluation of patient and laboratory testing confirmed drug-induced myopathy with elevated creatinine kinase (CK). Symptoms of myopathy and elevated CK resolved after holding empagliflozin. There are no current adverse effects listed with SGLT2 inhibitors including myopathy or rhabdomyolysis with the exception of other case studies. Physicians should be aware of this rare but serious side effect when initiating SGLT2 inhibitors.

Hypercalcemia may be induced by a variety of etiologies, most commonly primary hyperparathyroidism. Although primary hyperparathyroidism represents a relatively common endocrinological disorder, ectopic PTH secretion is a rare entity that is less well described in literature. We describe the first case to our knowledge of severe, symptomatic hypercalcemia found to be secondary to a PTH-secreting pancreatoblastoma. The patient initially presented with fatigue and progressive upper extremity intermittent muscular twitching. He was found to have biochemical evidence of primary hyperparathyroidism. A computed tomography scan of the neck and a sestamibi nuclear scan failed to definitively demonstrate a parathyroid adenoma or hyperplasia and bilateral surgical parathyroid exploration was unrevealing for any pathology. Abdominal imaging via computed tomography was obtained for evaluation of progressive postoperative epigastric pain, and the patient was found to have a retroperitoneal mass that, after biopsy, was diagnostic for a pancreatoblastoma. This mass was resected resulting in a fall in intraoperative PTH values and subsequent postoperative hypocalcemia secondary to hungry bone syndrome. Upon follow-up, the patient's parathyroid function recovered and doses of supplemental calcium and vitamin D could be tapered. Ectopic PTH-secreting masses represent a rare entity but should be considered in individuals with unclear etiology of recalcitrant primary hyperparathyroidism.

The increase in popularity of electronic cigarettes arouses great health concern. We describe a case of a 35-year-old female with chronic use of electronic cigarettes. She presented with secondary amenorrhea and prominent features of hyperandrogenism, including acne vulgaris, male-pattern alopecia, deepening of voice, and hirsutism. The initial biochemical workup revealed a profile indicating 11β-hydroxylase deficiency. However, genetic analysis did not show any evidence of CYP11B1 mutation. This patient manifested the florid signs of disrupted steroidogenesis brought by chronic use of electronic cigarette oil containing etomidate and propoxate/isopropoxate, which are compounds structurally resembling etomidate. High clinical suspicion and sound understanding of the pharmacology and pathophysiology were instrumental in establishing the diagnosis for our present case.

Hypercalcemia is most commonly associated with primary hyperparathyroidism or malignancy in the setting of elevated parathyroid hormone-related protein or bone metastases. Calcitriol (1,25-dihydroxyvitamin D)-mediated hypercalcemia is rare and typically associated with granulomatous conditions; however, other solid-organ etiologies have been reported. Here, we detail the case of a 62-year-old man with metastatic pancreatic neuroendocrine tumor (pNET) with hypercalcemia refractory to traditional bisphosphonate therapy in the setting of vastly elevated 1,25-dihydroxyvitamin D. Only after initiation of chemotherapy with capecitabine and temozolomide did his serum calcium consistently improve and 1,25-dihydroxyvitamin D begin to decrease. There are fewer than 5 reported cases of a pNET resulting in calcitriol-mediated hypercalcemia. Prompt initiation of treatment for the underlying condition can result in a significant improvement in serum calcium or 1,25-dihydroxyvitamin D. Multiple reports have also demonstrated success with high-dose steroid administration in patients with other solid-organ etiologies of calcitriol-mediated hypercalcemia, but this has not yet been reviewed in the pNET population.

Hypertriglyceridemia is an important and well documented adverse effect caused by the immunosuppressive agent sirolimus. Patients treated with sirolimus require frequent monitoring of blood lipid panels and prompt treatment with appropriate triglyceride-lowering therapies. We report the case of an asymptomatic 65-year-old female stem cell transplant recipient who developed extreme hypertriglyceridemia with levels > 19,000 mg/dL (214 mmol/L) (reference range, < 150 mg/dL [< 1.7 mmol/L]), secondary to sirolimus for prophylaxis of graft-vs-host disease. Acute treatment included admission to the intensive care unit for initiation of an intravenous insulin infusion, low-fat diet, and discontinuation of sirolimus. These measures, in addition to initiation of oral triglyceride-lowering agents and improved glycemic control, led to substantial improvement in triglyceride levels.