Case Reports in Endocrinology最新文献

Background: Cushing's disease can present with hyperglycemia, hypertension, electrolyte abnormalities, headaches, confusion, gastrointestinal (GI) bleeds, and more. Macroadenomas of the pituitary causing cortisol excess can complicate these cases of patients with a recent hemorrhagic stroke with the medical complexities found within both disease processes of hemorrhagic stroke and Cushing's disease.

Case: This is a 61-year-old female patient who returned from a rehabilitation facility after confusion, abdominal pain, vaginal bleeding, and weakness. History included hypertension, hypothyroidism, type 2 diabetes mellitus, suspected Cushing's disease, hemorrhagic stroke, and a lumbar compression fracture. Blood pressure was 195/87 with a potassium of 2.0. X-ray showed a nonobstructive bowel gas pattern, and computed tomography (CT) of the abdomen and pelvis was concerning for stercolitis, multiple pancreatic cysts, and atelectasis. Insulin, intravenous (IV) fluids, and electrolyte replacement were initiated. She developed a deep venous thrombosis (DVT) in the right lower extremity and was placed on enoxaparin. Worsening of GI bleeding occurred, and an inferior vena cava filter was placed. Osilodrostat was started. Colonoscopy showed ulcerations in the sigmoid colon. Pathology showed no findings concerning dysplasia or malignancy. Osilodrostat was increased to 2 mg twice a day. She was discharged home, with follow-ups for resection of her macroadenoma, biopsy of uterine endometrium, and genetic testing.

Discussion/conclusions: The clinical manifestations found in this case are largely due to hypercortisolism, and while she is going to still have additional testing including biopsy of the fibroid, colorectal surgical evaluation for hemorrhoids, and genetic testing with confirmatory lab work per endocrinology outpatient, her illness was medically uncontrolled. As osilodrostat takes a couple weeks to a couple months for full control with frequent cortisol checks, adjustments including insulin, blood pressure control, electrolyte corrections, and more should be considered.

Introduction and importance: Thyroid hemiagenesis (THA) is a rare congenital anomaly characterized by the underdevelopment or complete absence of one thyroid lobe. The coexistence of thyroid carcinoma in patients with this condition is exceedingly uncommon, with only a limited number of cases reported worldwide. Awareness of this presentation is essential due to its diagnostic and therapeutic implications.

Case presentation: We report a 36-year-old female who presented with a right thyroid nodule and was subsequently diagnosed with papillary thyroid carcinoma in the context of left THA. Ultrasonography and contrast-enhanced computed tomography (CT) confirmed the absence of the left thyroid lobe and isthmus. Fine-needle aspiration biopsy (FNAB) was not performed due to the small size of the nodule and patient preference. The patient underwent right thyroidectomy with prophylactic right central neck dissection. Intraoperative frozen section confirmed papillary carcinoma, guiding the surgical extent. Postoperative pathology revealed a 0.4 cm papillary carcinoma without lymph node metastasis.

Clinical discussion: THA is typically asymptomatic and often discovered incidentally. However, anatomical variations may complicate the diagnosis and surgical management of thyroid carcinoma. Preservation of parathyroid glands, recurrent laryngeal nerves, and awareness of possible ectopic thyroid tissue, are critical during surgery.

Conclusion: Papillary thyroid carcinoma occurring in THA is rare but clinically significant. This case highlights the importance of careful preoperative assessment and the value of intraoperative frozen section analysis in determining the need for central neck dissection. Early detection, individualized surgical planning, and multidisciplinary follow-up can optimize outcomes in such atypical presentations.

Autoimmune glandular syndrome type 2 is a complex genetic condition where a triad of endocrinopathies is involved, namely, Addison's disease, type 1 diabetes, and/or autoimmune thyroid disorder. The disease predisposes one to a variety of other autoimmune associations. Here, we report a rare presentation of a patient with autoimmune polyglandular syndrome type 2 (APS-2) presenting with a 7-year history of progressive splenic atrophy causing functional hyposplenism that ultimately progressed to anatomical asplenia (autosplenectomy) as demonstrated in the serial imaging. We postulate that the underlying cause of this presentation is also of autoimmune nature. Unlike APS-1, which has been linked to hyposplenism, this is the first reported case of APS-2 with similar splenic involvement. Splenic hypofunction can increase susceptibility to encapsulated bacterial infection, with overwhelming postsplenectomy infection (OPSI) being a significant threat. It is crucial that clinicians recognize the importance of providing guidance on vaccinations, antibiotic chemoprophylaxis, and patient education for individuals with asplenia or hyposplenism. If patients with APS can experience progressive splenic atrophy, we suggest long-term follow-up with splenic function assessment. It is yet unclear whether preemptive screening with pitted red cell count has any clinical impact in this group of patients.

Primary adrenal insufficiency due to infiltrative fungal infections, such as Cryptococcus neoformans, is rare, particularly in immunocompetent patients. We present a case of an immunocompetent 61-year-old man who presented with bilateral adrenal enlargement and adrenal insufficiency, with a 3-month history of generalised fatigue, weight loss and dizziness, as well as initial hyponatraemia and hyperkalaemia. Adrenal computed tomography (CT) revealed bilaterally enlarged adrenals, and fluorodeoxyglucose positron emission tomography (FDG-PET) revealed increased peripheral metabolic surrounded by a photopenic core suggestive of central necrosis. Adrenal biopsies were consistent with Cryptococcus. Serum cryptococcal antigen (CrAg) testing was strongly positive (titres 1:1280) as was cerebrospinal fluid analysis (titre 1:160). The patient was commenced on hydrocortisone and fludrocortisone, with improvement in symptoms. Treatment involved induction therapy with intravenous liposomal amphotericin-B 4 mg/kg daily and 5-flucytosine 25 mg/kg four times daily for 2 weeks, followed by consolidation therapy with fluconazole. This case highlights the importance of considering disseminated cryptococcosis in immunocompetent individuals presenting with adrenal insufficiency. Early diagnosis and appropriate antifungal therapy are crucial.

Primary hyperparathyroidism (PHPT) is a metabolic disorder characterized by hypercalcemia with elevated or unsuppressed parathyroid hormone (PTH). It is rare in children but common in adults, particularly in women around the age of 50. In 85% of cases, PHPT is asymptomatic and is diagnosed following hypercalcemia and elevated PTH levels during routine examinations. PHPT occurring before the age of 25 and the normocalcemic phenotype are unusual situations that may delay diagnosis. These nonclassical forms expose patients to severe bone complications that can cause disability. Our objective is to report three clinical cases of PHPT revealed by catastrophic skeletal deformities and pathological fractures.

Background: Ovarian Leydig cell tumors, rare androgen-producing neoplasms, may present with rapidly progressive virilization. Preoperative localization is frequently challenging, particularly when bilateral ovarian abnormalities coexist or radiologic findings are equivocal. To avoid unnecessary bilateral oophorectomy and preserve fertility in reproductive-aged females, accurate localization is crucial.

Case presentation: We describe the case of a 42-year-old reproductive-aged female who presented with hirsutism, voice deepening, amenorrhea, and biochemical evidence of severe hyperandrogenism. Imaging revealed a solid nodule-like lesion in the right ovary and a large cystic lesion in the left ovary, making the true origin of androgen excess uncertain. To achieve definitive localization, preprocedural computed tomography (CT) angiography-guided ovarian vein sampling (OVS) was performed, which delineated the venous anatomy and facilitated successful right ovarian vein catheterization. Hormonal analysis revealed markedly elevated testosterone levels in the right ovarian vein, confirming unilateral secretion. Laparoscopic right adnexectomy and left ovarian cystectomy were performed. Pathological analysis confirmed a right ovarian Leydig cell tumor and a benign left ovarian cyst. Postoperatively, serum testosterone levels normalized, menstruation resumed, and virilization features gradually improved over 1 year.

Conclusion: This case underscores the utility of CT angiography-assisted OVS in localizing androgen-producing ovarian tumors when conventional imaging is inconclusive. Functional confirmation of laterality enabled fertility-sparing surgery (FSS) in a reproductive-aged patient and led to optimal clinical outcomes. Adapting adrenal vein sampling (AVS) methodology to OVS represents a valuable diagnostic approach in selected cases of severe hyperandrogenism.

Background: To observe the efficacy and safety of artificial pancreas (Android-hybrid closed-loop [HCL] system) in patients with type 1 diabetes mellitus (T1DM), and to compare it with insulin multi-injection therapy.

Case presentation: A patient with long course of type 1 diabetes was treated with multiple injections of insulin, Android-HCL therapy, and sequential multiple injections of insulin. The intraday glucose fluctuation (especially after lunch, before sleep, and during sleep) of the Android-HCL system was significantly superior to that of the sequential multi-injection insulin therapy. The administration of artificial pancreas system (APS) could significantly reduce the occurrence of Grade 2 hypoglycemia events.

Conclusion: Artificial pancreases are feasible for inpatients with type 1 diabetes and may be preferable to conventional insulin therapy.

Parathyroid cancer (PC) is one of the rarest causes of primary hyperparathyroidism (PHPT), typically exhibiting an indolent course but presenting with more severe symptoms compared to its benign counterparts. The diagnosis is most often made postoperatively through histopathological examination; however, certain clinical and biochemical features may raise suspicion preoperatively. These include markedly elevated serum calcium and parathyroid hormone (PTH) levels, a large parathyroid lesion with suspicious ultrasonographic features, and evidence of renal or skeletal complications. Although the exact etiology remains unclear, somatic mutations in the CDC73 gene have been identified in patients with PC. Complete surgical resection via en bloc excision remains the first-line and most effective therapeutic approach to maximize the chance of cure, although recurrence is common during follow-up. Other treatment modalities, including radiotherapy, chemotherapy, and immunotherapy, have limited evidence supporting their efficacy. Here, we report the case of a 53-year-old male who presented with lower limb weakness, confusion, and significant weight loss over the preceding month. His past medical history included prediabetes and dyslipidemia. Initially evaluated by a neurologist for depressive symptoms, he subsequently developed rapidly progressive neurocognitive decline, impaired mobility, and continued unexplained weight loss. Upon hospital admission, he was somnolent and confused, though hemodynamically stable. Laboratory investigations revealed severe hypercalcemia at 18 mg/dL (reference range: 8.5-10.5), acute kidney injury with a creatinine of 4.2 mg/dL (0.7-1.3), and a markedly elevated PTH level of 1095 pg/mL (10-65). Initial management included aggressive intravenous hydration and administration of denosumab to control the symptomatic hypercalcemia, which resulted in improved calcium levels and renal function. Further evaluation with imaging, including parathyroid ultrasound and Technetium-99m (Tc-99m) sestamibi scintigraphy, was consistent with a right parathyroid adenoma. The patient subsequently underwent parathyroidectomy, and histological analysis confirmed the diagnosis of parathyroid carcinoma.

Adrenal insufficiency (AI) is characterized by inadequate steroid hormone production and is frequently a consequence of hypopituitarism, which is also associated with increased risk of osteoporosis due to deficiencies in growth hormone, gonadotropins, and other pituitary hormones. Zoledronic acid (ZA), a widely used bisphosphonate, is associated with acute phase reaction (APR) that may trigger adrenal crisis in susceptible individuals. We describe two patients with hypopituitarism and osteoporosis who developed adrenal crisis shortly after their first ZA infusion, despite stable physiological steroid replacement and acetaminophen prophylaxis. One presented with hypotension and shock within 24 h, the other with hypotension, severe hyponatremia, and seizures at 48 h. Both recovered after high-dose glucocorticoids and were later switched to denosumab without complications. These cases highlight the potential for adrenal crisis in patients with central AI receiving ZA and suggest that standard prophylaxis may be insufficient. Alternative therapies and enhanced precautions may be warranted in this vulnerable population.

Primary hyperparathyroidism (PHPT), whether caused by an adenoma or hyperplasia, can be curative with parathyroidectomy. However, persistently elevated parathyroid hormone (PTH) despite parathyroidectomy suggests multigland disease. We present a case of concurrent single-gland parathyroid hyperplasia and an ectopic parathyroid adenoma in a 72-year-old woman with long-standing PHPT. Despite persistently elevated calcium and PTH levels, all diagnostic imaging was negative for parathyroid hyperplasia and adenoma. PTH remained elevated despite initial parathyroidectomy for hypercellular tissue consistent with hyperplasia. An ectopic paraesophageal parathyroid adenoma was ultimately discovered and resected, resolving the PHPT. This case emphasizes that negative imaging does not exclude active parathyroid disease.