JCEM case reports最新文献

Ovarian carcinoid tumors (OCTs) are rare and may cause carcinoid syndrome (CS) even in the absence of liver metastases. Carcinoid heart disease (CHD), which develops in up to 50% of patients with CS, substantially affects morbidity and mortality. While prognosis is generally favorable, maintaining clinical suspicion and early diagnosis is crucial to prevent the development of advanced heart failure or metastases. We present a case of a woman exhibiting asthenia, diarrhea, and de novo severe hypertension. Echocardiography revealed typical features of CHD. Elevated urinary levels of 5-hydroxyindoleacetic acid (5-HIAA) corroborated the diagnosis of CS. ⁶⁸Ga-DOTANOC positron emission tomography computed tomography identified a suspicious left pelvic mass, which was subsequently confirmed by magnetic resonance imaging. Surgical resection of the tumor was performed, followed by tricuspid valve replacement surgery, confirming the diagnosis of OCT associated with CS and CHD. Postoperative follow-up revealed considerable clinical improvement, and the patient has remained free of recurrence. This case underscores the complex cardiovascular involvement in CS, with secondary hypertension as the initial symptomatic manifestation, which improved following resection of OCT. Additionally, it highlights the role of CS in the pathogenesis of severe tricuspid valve dysfunction, which ultimately required cardiac surgery.

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C > T;p. (Arg1154Trp)) causing Cantú syndrome.

Prolactinomas are the most common functional pituitary tumor and are typically managed with dopamine agonists such as bromocriptine or cabergoline. Although these agents are generally well tolerated and effective in reducing prolactin levels and often tumor size, they have been implicated in rare but serious fibrotic complications, including interstitial lung disease (ILD). We describe a 65-year-old man with a longstanding prolactinoma who received cumulative high-dose bromocriptine and cabergoline therapy over several decades. Despite initial tumor shrinkage and partial biochemical control of hyperprolactinemia with dopamine agonists, stereotactic radiosurgery, and transsphenoidal surgery, the patient developed progressive exertional dyspnea and cough, accompanied by imaging and histopathological findings consistent with "usual interstitial pneumonia" (UIP). Autoimmune and environmental causes were largely excluded, suggesting a drug-induced etiology. Following discontinuation of cabergoline, the patient has been on continued surveillance of his prolactin levels and tumor status, with symptomatic treatment of his UIP. This case underscores the potential for dopamine agonist-associated ILD, even in patients with prolactinomas who generally receive lower weekly doses than those used in Parkinson's and related diseases. Early recognition of respiratory symptoms, pulmonary function, and radiological investigations are indicated in selected symptomatic cases.

Hypophosphatasia (HPP) is characterized by defective bone mineralization due to reduced function of tissue-nonspecific alkaline phosphatase (TNSALP) caused by pathogenic ALPL gene variants. Hypercalcemia is more common in the perinatal and infantile forms and may be mitigated or prevented with enzyme replacement therapy asfotase alfa (AA). Here, we report a patient who developed severe hypercalcemia while receiving AA. Hypercalcemia was initially managed with intravenous fluids, dietary calcium restriction, and maximizing AA dose. Despite these measures, she required an additional hospital admission, at which time calcitonin 4 IU/kg every 12 hours was initiated. On this regimen, her calcium normalized without recurrence of severe hypercalcemia. Over the subsequent 8 months, restrictions of calcium intake were slowly lifted, and calcitonin was tapered and discontinued with maintenance of calcium within the normal range. This case underscores the significance of vigilant monitoring of calcium levels and dietary intake in infants diagnosed with HPP. While calcitonin is typically not considered as a sustained treatment for hypercalcemia, the present case illustrates the efficacy of adjunct calcitonin therapy, in conjunction with restricted calcium intake and maximum AA dosing, in managing severe hypercalcemia in an infant with perinatal HPP.

We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.

Cyclic Cushing syndrome (CS) is a rare form of CS characterized by intermittent episodes of hypercortisolism. We report the case of a 30-year-old female who was diagnosed with ACTH-dependent Cushing disease, confirmed by initial biochemical tests and pituitary imaging. Although surgery was planned, she experienced spontaneous remission for several months, followed by pregnancy, and subsequently relapsed in the early postpartum period. Transsphenoidal resection of a left-sided pituitary adenoma was then performed, confirming an ACTH-secreting tumor. A review of the literature revealed that this case contributes to the increasing number of patients with cyclic CS, with particular attention to the challenges of diagnosing hypercortisolism during pregnancy. While cases of Cushing disease recurrence after pituitary surgery in the immediate postpartum period have been documented, this is the first reported case of early postpartum relapse in cyclic CS. This case highlights the importance of long-term follow-up in patients with a high index of suspicion for cyclic CS, as well as the diagnostic challenges in managing the condition during pregnancy and the peripartum period.

Pituicytomas are rare benign sellar tumors that originate in the neurohypophysis. We report the first case of a pituicytoma during pregnancy, causing headaches and bilateral temporal visual field defects. A 32-year-old woman at 16 weeks of gestation was admitted to our hospital for headaches and progressively worsening visual impairment. Cranial magnetic resonance imaging (MRI) revealed a sellar lesion that was resected via a neuroendoscopic endonasal-transsphenoid approach. Pathology revealed a pituicytoma with positive progesterone receptor expression. After cerebrospinal fluid (CSF) leakage repair and anti-infective therapy, the patient recovered well and finally gave birth to a healthy child. This is the first case of pituicytoma during pregnancy reported. Pregnancy may have a contributing effect on the progression of progesterone receptor-positive pituicytomas. Surgical intervention, when performed with appropriate perioperative management, can effectively alleviate mass effects caused by pituicytomas in pregnant women while maintaining the safety of the fetus.

Thyroid-stimulating hormone (TSH; thyrotropin) adenoma is a rare pituitary tumor that can be missed due to its subtle symptoms. We are reporting a 67-year-old man with history of ventricular fibrillation on amiodarone who presented with acute headache and right third cranial nerve palsy. His computed tomography (CT) scan revealed a 2.2-cm suprasellar mass, consistent with pituitary apoplexy, and he underwent pituitary tumor resection. Preoperational hormonal workup revealed TSH 0.25 mIU/mL (0.25 IU/L) (normal reference range: 0.35-4.94 mIU/mL; 0.35-4.94 IU/L), free thyroxine (T4) 3.17 ng/dL (40.80 pmol/L) (normal reference range: 0.7-1.48 ng/dL; 9.78-19.05 pmol/L), and total triiodothyronine (T3) 91 ng/dL (140 nmol/L) (normal reference range: 58-159 ng/dL; 89-244 nmol/L). Initial differential diagnoses included TSH-producing pituitary adenoma (TSH-oma) and amiodarone-induced thyrotoxicosis. His free T4 declined significantly postoperatively, favoring a TSH-oma diagnosis. The pathology report showed a TSH and growth hormone (GH) cosecreting adenoma. Furthermore, he had a normal thyroid uptake scan, as well as negative thyroid antibodies, making primary thyroid diseases less likely. A high free T4 with normal TSH 3 years ago, prior to the start of amiodarone, suggested a long disease duration. This case demonstrates challenges in diagnosing TSH-oma, especially in patients with normal TSH and concurrent amiodarone use.

The frequency and impact of multiple driver mutations have not been extensively explored in papillary thyroid carcinoma (PTC), in which driver mutations are most commonly solitary. We present a case of a 62-year-old female who was found to have a 2.6-cm classical, nonaggressive-appearing PTC. A next-generation sequencing panel assessed the tumor for mutations. Five unique single nucleotide sequence variants, none of which was seen in The Cancer Genome Atlas study on PTC, were found: BRAF D594N, NRAS Q61H, PIK3CA G1007R, PTEN R335*, and PTEN Y225*. We believe that 5 pathogenic variants are the highest reported number for a primary PTC resection specimen to date. The observed typical PTC behavior may be due to a weaker strength of the individual pathogenic variants to drive oncogenic processes. In this case, the high number of genetic alterations did not translate into aggressive histopathology or clinical course.