Journal of Clinical and Translational Endocrinology: Case Reports最新文献

Parathyroid lipoadenoma is an uncommon type of parathyroid adenoma and a rare cause of primary hyperparathyroidism (PHPT). The rarity of this entity, the difficult detection on imaging and the resemblance with normal parathyroid tissue microscopically makes its diagnosis difficult. We reported the case of an asymptomatic 48-year-old male treated for amiodarone-induced thyrotoxicosis and incidental sporadic PHPT, that supplements and supports the rare literature data concerning the knowledge, diagnosis, and treatment of parathyroid lipoadenoma.

Thyroglossal duct cysts are one of the most common causes of anterior neck swelling. Thyroglossal duct carcinoma arising from these cysts is quite rare; it occurs in less than 1 % of all the thyroglossal duct cysts. Imaging plays a crucial role in evaluating these lesions and suggesting further pathologic workup in suspicious cases. We report a case of a 30-year-old woman with a diagnosis of papillary carcinoma within the thyroglossal duct cyst.

Administration of selective estrogen receptor modulators (SERMs) and anti-estrogens has been shown to reduce the size of pituitary tumors. However, previous studies were performed on animal pituitary tumors or tissue cultures. We administered oral tamoxifen to a postoperative patient with a nonfunctioning pituitary neuroendocrine tumor (NF-PitNET) to investigate its potential effect on tumor volume. This case report presents the case of a 47-year-old female patient with a null cell adenoma who had undergone surgical resection as primary treatment and was left with a residual tumor that grew significantly. She was treated with tamoxifen 20–40 mg daily for one year. She was followed up to assess tamoxifen adherence, tolerability, and adverse events. The resected pituitary tumor was stained with estrogen receptor alpha (ERα) and beta (ERβ), proliferation markers (ki-67 and p53), and H&E staining for mitotic count. MRI of the pituitary gland was performed before starting treatment, after 6 months, and after 1 year of tamoxifen therapy. Her resected tumor showed high-intensity ERβ staining in the absence of ERα expression. She was able to tolerate oral tamoxifen therapy without side effects. Tamoxifen therapy resulted in a remarkable reduction in residual tumor volume of up to 87 % in this patient. Tamoxifen has a potential therapeutic effect in treating patients with residual NF-PitNET tumors that have regrown after primary resection. This finding may provide an alternative treatment modality for recurrent NF-PitNET. ERβ expression may predict response to tamoxifen in this subset of patients.

Background/objective

Oculomotor palsy is one of the most frequent neuro-ophthalmologic complications in patients with diabetes. Specifically, sixth nerve palsy is the most common.

Case report

A 51-year-old female with a past medical history of type 1 diabetes on insulin and hypertension presented with complaints of worsening headache and diplopia. Physical exam was remarkable for recurrent sixth-nerve palsy. Patient was hemodynamically stable. Labs showed blood glucose of 367 mg/dL (70–100 mg/dL), an anion gap of 2 mmol/L (3–13 mmol/L), creatinine of 0.61 mg/dl (0.66–1.25 mg/dL), sodium of 129 mmol/L (135–145 mmol/L), and potassium of 4.4 mmol/L (3.5–5.1 mmol/L). Her hemoglobin A1C was 13.0 % Her complete blood count shows a white blood cell count of 6000/μL (3600-10,700/μL) and a hemoglobin of 14 g/dL (13.0–18.0 g/dL). Magnetic resonance venography of the head was negative for cerebral venous sinus thrombosis and magnetic resonance imaging of the brain was negative for acute abnormalities. Blood glucose readings improved during hospitalization after optimizing her insulin regimen. She was recommended to follow-up with outpatient endocrinology to discuss use of an insulin pump to better control her diabetes.

Discussion

Sixth-nerve palsy is a frequent but lesser-known neuro-ophthalmologic complication of poorly controlled diabetic patients.

Conclusion

Studies have shown a higher incidence of diabetes in patients with sixth-nerve palsy, warranting a more focused medical evaluation along with close observation and tighter control of blood glucose levels and hemoglobin A1C.

Background

Pseudohypoaldosteronism (PHA) is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.

Case report

We admitted 4 cases of PHA in our institution between 2017–2021. All of them had a delay in the initial diagnosis due to similarity of presentation to CAH that is more encountered in clinical practice. They presented with variable symptoms of vomiting, poor feeding, weight loss, dehydration, and fever. In addition, they all had profound hyperkalemia reaching 10–11 meqL and significant hyponatremia reaching 129 meqL. Case one and four both showed initial normal levels of serum aldosterone that were found to be high after dilution of the samples. During follow-up periods of 31 months to 4 years, all of these patients required regular adjustment of kayexalate, sodium chloride and sodium bicarbonate doses according to weight changes to keep a normal serum sodium level and a potassium level below 5.5 meqL.

Discussion

Our patients' series demonstrates challenges that may face physicians during PHA management. PHA mimics CAH in clinical and biochemical presentation. Also, there are technical issues regarding the accuracy of serum aldosterone measurement. Moreover, the use of a potassium chelating agent requires careful and close follow up for optimization of doses to avoid life threatening hyperkalemia. This requires frequent follow-up to ensure monitoring, dose adjustment and early detection of electrolytes’ imbalance.

Conclusion

PHA, as in our patients, can be associated with a delay in both the diagnosis and early start of management. Our series also demonstrates that an optimal adjustment of treatment doses is critical for rapidly growing young children.

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. It is predominantly described as insulin-requiring hyperglycemia before the age of 6 months. Diagnosis of NDM can be difficult due to its varying clinical presentation. Prompt genetic testing is paramount to determine the appropriate management. In this report, we demonstrate a case where genetic testing has led to an accurate diagnosis of NDM in a 7-month-old infant who was successfully switched from subcutaneous insulin to oral anti-diabetics. Identification of the infant's genetic diagnosis led to the correction of the father's misdiagnosis of type 1 diabetes mellitus to monogenic diabetes. Reclassification of the father's diabetes allowed the replacement of his long-lasting insulin therapy with oral anti-diabetics and the improvement of glycemic control. This report highlights the value of genetic testing in NDM diagnosis beyond the first six months of life and how NDM diagnosis in an index case could help with the correct diagnosis, classification, and treatment of other family members with diabetes even after several years of insulin treatment.

Solid organ transplantation, especially liver transplantation, is higher in patients with Type 2 Diabetes (T2D), with further worsening of glycemic control post-transplantation. This vicious cycle increases the risk of cardiovascular mortality, emphasizing the need for an effective T2D management strategy. We present a unique case of T2D remission through intensive lifestyle modification in a liver transplant recipient. A 55-year-old male liver transplant recipient with a history of T2D since 1995 and insulin therapy for 17 years experienced severe non-alcoholic fatty liver disease (NAFLD) and liver cirrhosis, necessitating a liver transplant in 2016. Post-transplant, he was on insulin and immuno-suppressants. In 2021, the patient joined our one-year diabetes management program, involving intense lifestyle modifications, including a plant-based, low-carbohydrate diet, physical activity, stress management, mindfulness meditation, and medical management. Insulin dose adjustments were made based on daily glucose monitoring. After three months, the patient experienced hypoglycemia, and insulin was discontinued. T2D remission was confirmed by normal blood glucose levels, and HbA1c of 6.3 %, and clearing of oral glucose tolerance tests (OGTT) twice post remission (at 9 and 21 months). This case report provides the first-ever documented evidence of T2D remission through non-pharmacological intervention after liver transplantation. Additionally, it reports the first-ever OGTT clearance following T2D remission post-liver transplantation.

Sheehan syndrome is a relatively rare complication of postpartum bleeding that mostly results from anterior pituitary impairment caused by ischemic necrosis. This report highlights a unique case of a 58-year-old female suffering from Sheehan syndrome presenting with recurrent episodes of vomiting, abdominal pain, and drowsiness. Laboratory investigations confirmed hyponatremia, hypoglycemia, hypocortisolism, and secondary hypothyroidism. MRI scans revealed a partially empty sella. Prompt treatment with sodium supplementation, levothyroxine, and hydrocortisone led to significant improvement in the patient's condition. This case underscores the critical importance of early recognition and comprehensive diagnostic approaches to optimize management. It also highlights the need for increased medical awareness and tailored treatments to enhance outcomes and prevent complications in Sheehan syndrome.

Background/objective

Sodium-glucose cotransporter 2 (SGLT-2) inhibitors are known to increase the risk of euglycemic diabetic ketoacidosis (DKA). Hyperglycemic DKA (hDKA), however, is not a common side effect of SGLT-2 inhibitor monotherapy.

Case report

We present a case of hyperglycemic DKA in a middle-aged Caucasian male with a history of type 2 diabetes on monotherapy with an SGLT-2 inhibitor, no history of insulin deficiency or evidence of autoimmune diabetes and no precipitating factors for DKA at presentation. The patient was discharged from the hospital on insulin therapy after resolution of DKA and was transitioned to an oral anti-hyperglycemic regimen which did not include SGLT-2 inhibitors. Close outpatient follow up subsequently revealed declining C-peptide levels and increasing hemoglobin A1C levels without any episodes of DKA.

Discussion

The mechanisms by which SGLT-2 inhibitors cause hDKA are not fully understood and likely involve hyperglucagonemia. Inhibition of SGLT-2 by dapagliflozin has been shown to paradoxically trigger glucagon secretion at higher glucose concentrations possibly due to direct effects on K_ATP channel activation and membrane depolarization in pancreatic α-cells.

Conclusion

We conclude that monotherapy with SGLT-2 inhibitors presents a risk of not just euglycemic, but also hyperglycemic diabetic ketoacidosis in patients with type 2 diabetes and declining endogenous insulin production.