AACE Clinical Case Reports最新文献

Background/objective: In <10% of cases, pheochromocytomas coexist with other tumors, most commonly ganglioneuromas, and are termed composite pheochromocytoma-ganglioneuromas. We present 2 cases of composite pheochromocytoma-ganglioneuromas and review the diagnosis and management of these rare tumors.

Case report: Patient 1 and patient 2 were 35-year-old and 45-year-old woman, respectively. Patient 1 presented with a history of controlled hypertension and symptoms of anxiety along with palpitations, diaphoresis, and flushing. Patient 2 complained of abdominal pain and underwent abdominal computed tomography (CT) imaging. Patient 1 and patient 2 had metanephrine levels of 76 pg/mL and 61 pg/mL (normal <57 pg/mL), respectively, and normetanephrine levels of 161 pg/mL and 116 pg/mL (normal < 148 pg/mL), respectively. CT scans depicted right adrenal masses in both cases: patient 1 had a 2.3 × 2.6 cm mass measuring 36 Hounsfield units on noncontrast CT imaging and patient 2 had a 4.5 × 3.5 cm right adrenal mass measuring 73 Hounsfield units on contrast CT imaging. Both patients underwent laparoscopic robotic adrenalectomies without complications. The pathologic analyses of both cases revealed composite pheochromocytoma-ganglioneuroma tumors. Surveillance at 1 year in both patients demonstrated no evidence of recurrence.

Discussion: The clinical and radiological presentation of composite pheochromocytoma-ganglioneuromas mirrors pheochromocytomas. The diagnosis relies on histopathological analysis. Treatment of pheochromocytoma-ganglioneuromas is complete surgical excision in a high-volume center with adrenal expertise and is associated with an overall excellent prognosis. The probability of recurrence is low, and distant metastases have rarely been reported.

Conclusion: Pheochromocytoma-ganglioneuromas may present with plasma metanephrine levels in the subclinical range. As with isolated pheochromocytomas, lifetime surveillance is critical for composite pheochromocytoma-ganglioneuromas.

Background/objective: Alpelisib is a phosphatidylinositol 3-kinase inhibitor used to treat certain hormone therapy resistant breast cancers that can cause hyperglycemia through inhibition of the insulin signaling cascade. Diabetic ketoacidosis with the initiation of alpelisib remains a rare complication. The objective of this report is to describe a patient with alpelisib-induced diabetic ketoacidosis and the difficulties of management.

Case report: A 59-year-old woman was admitted to the hospital with a history of noninsulin dependent type 2 diabetes on metformin presented with diabetic ketoacidosis. One month prior to this hospitalization, the patient was started on alpelisib. On presentation, blood glucose level was 612 mg/dL and hemoglobin A1c level was 11.9% (107 mmol/mol), a 4.6% (27 mmol/mol) increase from 2 months prior. The patient was started on intravenous insulin and alpelisib was held resulting in rapid resolution of the patient's hyperglycemia and ketoacidosis. However, with reinitiation of alpelisib the patient developed worsening hyperglycemia. Relative glycemic control was ultimately obtained with 3 oral agents and high doses of insulin.

Discussion: Direct inhibition of insulin signaling by alpelisib leads to insulin-resistant hyperglycemia. Most cases can be controlled with oral agents; however, insulin therapy is required in rare instances. Although more effective for glycemic control, insulin therapy has the potential to decrease the antitumor effects of alpelisib.

Conclusion: Diabetic ketoacidosis is a rare complication of alpelisib initiation, which is quickly resolved with cessation of the agent. For patients where cessation is not an option, insulin and insulin sensitizing agents can be used to achieve glycemic control at the potential detriment of tumor treatment.

Background/objective: Diabetic ketoacidosis is a common endocrine emergency. A subset of patients present with euglycemic diabetic ketoacidosis, which may be diagnosed late due to its rarity and relatively lower blood glucose levels. Pregnancy is associated with euglycemic diabetic ketoacidosis, which can lead to maternal and fetal demise without prompt treatment. The objective of this case report is to describe a patient with type 1 diabetes mellitus who developed euglycemic diabetic ketoacidosis on insulin pump therapy during pregnancy.

Case report: A 30-year-old pregnant patient at 33 weeks of gestation with type 1 diabetes mellitus on continuous subcutaneous insulin infusion presented to the emergency department with vomiting. Her serum bicarbonate of 9 mmol/L was accompanied by serum glucose of 130 mg/dL, moderate blood ketones, and urine ketones 80 mg/dL (large). She was treated with intravenous insulin infusion without complications to herself or the fetus.

Discussion: Pregnancy is a common background for euglycemic diabetic ketoacidosis and can lead to maternal and fetal demise if not addressed early. Despite insulin resistance in pregnancy, a relatively low blood glucose is maintained by increased glycogen storage and increased fetoplacental uptake. Altered acid-base physiology in pregnancy may also increase the propensity for euglycemic diabetic ketoacidosis.

Conclusion: Diabetic ketoacidosis can present in pregnancy with euglycemia, and a high index of suspicion is needed by both patients and health care teams. There are a few reports on this phenomenon in a pregnant patient using an insulin pump. Early identification and treatment are important to prevent maternal and fetal complications.

Background/objective: Thiamine deficiency, which may occur following bariatric surgery, can lead to the development of Wernicke's encephalopathy (WE). This case report describes a patient developing WE postbariatric surgery, due to the use of over-the-counter transcutaneous multivitamin patch rather than recommended vitamin tablets.

Case report: A 61-year-old female presented with 45 pounds of weight gain over the past year with a body mass index of 39.58 kg/m². She underwent lifestyle modification and treatment with dulaglutide with limited success. After evaluation and counseling, the patient underwent Roux-en-Y gastric bypass surgery and was prescribed thiamine, cholecalciferol, vitamin B12, and multivitamin tablets postoperatively. Eight months later, she presented to the emergency room with confusion, bilateral lower extremity weakness, paresthesia, and ataxia. Neurological examination revealed disorientation, nystagmus, and bilateral lateral rectus palsies. She reported using transcutaneous multivitamin patches instead of the recommended oral supplementation. The clinical features, low serum thiamine level of 1.28 μg/dL (reference 2.5-7.5 μg/dL), and resolution of symptoms following supplementation confirmed the diagnosis of WE.

Discussion: Obesity often predisposes individuals to multiple nutritional deficiencies. It is critical that these patients take adequate vitamin supplementation before and after bariatric surgery. Thiamine deficiency can present as WE due to inappropriate supplementation such as use of a transcutaneous patch as seen in our patient.

Conclusion: Adequate nutritional counseling and supplementation before and after bariatric surgery is required to prevent complications. Transcutaneous patch as a mode of multivitamin supplementation is questionable in its current state and should be avoided.

Background/objective: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder that is characterized by a triad including a thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and agenesis or dysgenesis of anterior lobe.PSIS is typically diagnosed in childhood. The objective of this report is to describe a patient with PSIS whose diagnosis was missed until adulthood.

Case report: A 42-year-old-female presented for evaluation of premature menopause, weight loss, and occasional dizziness. On examination she had short stature and absent secondary sexual features. Laboratory tests were consistent with hypopituitarism with follicle stimulating hormone 0.5 mIU/mL (16.7-113); luteinizing hormone 1.2 mIU/mL (10.8-58.6); prolactin 10.4 ng/mL (2.7-19.6); estradiol 20 pg/mL; cortisol 2 mcg/dL (6.7-22.6); adrenocorticotropic hormone 18 pg/mL (6-50); thyroid stimulating hormone 10.33 uIU/mL (0.28-3.8); free T4 0.41 ng/dL (0.58-1.64); insulin like growth factor-1 -3.7 SD (17 ng/mL) (52-328); and adrenocorticotropic hormone stimulation confirmed secondary adrenal insufficiency. The magnetic resonance imaging of the brain revealed an ectopic posterior pituitary with a partially empty sella, absence of the pituitary stalk, and a small anterior pituitary. The patient was initiated on replacement hormones with improvement in her symptoms.

Discussion: PSIS is a rare condition with uncertain pathogenesis and variable presentation requiring a high index of suspicion and presenting with multiple anterior pituitary hormone deficiencies. Diagnosis is confirmed by a dedicated pituitary magnetic resonance imaging, and treatment is tailored to the hormonal deficiency detected.

Conclusion: This case highlights the importance of early diagnosis of PSIS, which presents with multiple anterior pituitary hormonal deficiencies, but diagnosis can remain elusive unless dedicated brain imaging is performed.

Background/objective: Men with cystic fibrosis (CF) have a high prevalence of low testosterone levels. A recent retrospective study demonstrated a quarter of a cohort of men with CF had serum testosterone levels below 300 ng/dL. The evaluation of hypogonadism is of increasing clinical importance in order to prevent unfavorable outcomes. Herein we present a 31-year-old man with CF and a relatively low serum testosterone value who was found to have an additional unsuspected cause of male hypogonadism.

Case report: The patient was a 31-year-old man with history of CF who was referred to endocrinology clinic for the evaluation of hypogonadism. Serum testing revealed a total testosterone of 175 ng/mL (296-1377), luteinizing hormone 2.8 mIU/mL (1.2-8.6), and a prolactin of 341 ng/mL (3-13). A brain magnetic resonance imaging was obtained, which revealed a 1 cm hypoenhancing left sellar lesion. He was started on cabergoline. His testosterone increased to 707 ng/dL after a year on cabergoline treatment. His prolactin decreased to 12 ng/mL after a year of treatment. The pituitary adenoma decreased 50% in size 2 years after cabergoline was initiated.

Discussion: The most common etiologies of CF are recurrent infections, chronic inflammation, and glucocorticoid administration, which lead to both hypothalamic-pituitary dysregulation and primary hypogonadism. However, other less common causes of hypogonadism can also be found in CF.

Conclusion: We suggest that all men with cystic fibrosis found to have hypogonadism undergo additional evaluation for causes of hypogonadism prior to treatment with testosterone.

Background/objective: Cranial metastases rarely occur in malignant paragangliomas (PGLs) or pheochromocytomas, which usually metastasize to the liver, bone, lungs, and lymph nodes. Early detection and intervention with a multidisciplinary approach are crucial given the critical location.

Case report: Our patient was a 31-year-old man diagnosed with periaortic PGL and succinate dehydrogenase subunit B pathogenic variant at the age of 9 years with cardiac arrest. He developed intra-abdominal and skeletal metastatic disease by the age of 14 years and treated with surgery, chemotherapy, and radiation. After being lost to follow-up, the patient presented emergently with headache, palpitations, hypertensive crisis, type 2 non-ST-elevation myocardial infarction, and catecholamine-induced cardiomyopathy, with plasma free metanephrine level of 61.0 pg/mL (0.0-88.0 pg/mL) and elevated serum free normetanephrine level of 662.9 pg/mL (0.0-210.1 pg/mL). Imaging showed a right frontal calvarial lesion, with 4.9-cm intracranial dural and 4.9-cm extracranial components, and a 1.5-cm occipital bone lesion. Following adrenergic blockade, the patient underwent resection of the frontal lesion with pathology showing metastatic PGL.

Discussion: A multidisciplinary team was consulted. Because of potential neurotoxicity, radiology advised against radiotherapy. Oncology advised monitoring. Seven months postoperatively, gallium-68 dodecane tetraacetic acid-octreotate positron emission tomography/computed tomography showed no recurrence at the surgical site, stable occipital lesion, and additional skeletal metastases. The patient is planned for peptide receptor radionuclide therapy.

Conclusion: Our case highlights the importance of active surveillance in PGL and pheochromocytoma to allow early intervention for metastatic disease and reviews the controversial management of rare calvarial or cerebral metastases, including peptide receptor radionuclide therapy.

Background/objective: Individuals with X-linked hypophosphatemia (XLH) generally experience normal puberty. However, the prevalence of central precocious puberty (CPP) in patients with XLH seems to be similar to that of the general population, and CPP may similarly impact their predicted final height.

Case report: A female patient was diagnosed with XLH at 3 years old and received regular calcitriol and sodium-potassium phosphate treatment until age six. During this period, she showed increased growth velocity and improved height Z-score (from -2.38 SD to -1.95 SD). At 6 years and 11 months, she was diagnosed with idiopathic CPP, marked by thelarche, a growth spurt, and advanced bone age, resulting in a decreased predicted final height Z-score. She began pubertal blockade with leuprolide acetate and transitioned from conventional XLH treatment to burosumab. The combination of these treatments led to stabilized bone age, normalized growth velocity, and improved final height prediction without side effects or negative impacts on bone health during treatment.

Discussion: Although the prevalence of CPP in XLH patients has not been extensively studied, CPP in XLH may affect final height and worsen rickets by increasing mineral demands during growth spurts. Thus, CPP can be treated in patients with XLH, who may have compromised height outcomes, using synthetic gonadotropin-releasing hormone analogs.

Conclusion: In the described XLH patient with CPP, the combined use of gonadotropin-releasing hormone analogs and burosumab was a safe strategy to stabilize pubertal progression and bone age, minimize anthropometric loss, and avoid exacerbating bone deformities.

Background/objective: Although most gonadotroph cell-derived pituitary adenomas (PAs) give rise to nonfunctional PAs, hormonally active functional gonadotroph adenomas (FGAs) are exceedingly rare. We present a case of a giant and invasive functional gonadotropic pituitary macroadenoma treated with endoscopic transsphenoidal surgery and subsequent postoperative radiotherapy.

Case report: A 54-year-old man presented with gradually worsening vision over 1 year. Magnetic resonance imaging demonstrated a 5.2-cm sellar and suprasellar mass with cavernous sinus invasion, mass effect on the optic chiasm, and extension into the sphenoid sinus, nasal cavity, and clivus. Preoperative workup was remarkable for erythrocytosis without sleep apnea and increased levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, and testosterone. Immunohistochemistry results following endoscopic transsphenoidal resection confirmed dominant staining for steroidogenic factor-1, FSH, and LH. Postoperatively, the patient's FSH level decreased, whereas the LH level normalized within 1 week. The free testosterone level normalized at 9 months. The patient underwent radiotherapy for a small amount of residual tumor in the right cavernous sinus and has demonstrated no evidence of disease or hormonal progression.

Discussion: There is no consensus on FGA-specific management that differs from the management of nonfunctional PAs; surgery is recommended when vision is impacted. The invasive nature of the tumor presented in this case is rare and limited safe gross total resection, requiring adjuvant radiotherapy.

Conclusion: FGAs are rare, and those of similar size and extent of invasion as in our case are even more so. In addition to surgical resection, consideration of adjunct therapies including radiation and multidisciplinary physician involvement are vital in achieving clinical improvement and remission while preventing possible progression and recurrence.