AACE Clinical Case Reports最新文献

Background/Objective

Maturity-onset diabetes of the young type 5 (MODY5) is caused by a hepatocyte nuclear factor 1β (HNF1β) gene mutation on chromosome 17q12. HNF1β mutations have also been found in ovarian clear cell carcinoma, whereas ovarian non–clear cell carcinoma expresses this mutation rarely. 17q12 recurrent deletion syndrome features include MODY5, urogenital anomalies, and psychiatric and neurodevelopmental disorders. This is a report of a patient with 17q12 recurrent deletion syndrome with MODY5, uterine abnormalities, and low-grade serous ovarian cancer.

Case Report

A 25-year-old woman with recently diagnosed stage IIIC low-grade serous ovarian carcinoma was evaluated at the endocrinology clinic for diabetes, which was diagnosed at the age of 12 years. C-peptide level was detectable and T1DM antibodies were negative. The mother had diabetes, partially septated uterus, and solitary kidney. Abdominal computed tomography showed pancreatic atrophy, ascites, omental and peritoneal nodularity, and calcifications. Laparoscopy revealed bicornuate uterus, 2 cervices, and vaginal septum. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy, lymph node dissection, and omentectomy. Chromosomal microarray analysis revealed a pathogenic ∼1.8 Mb loss of 17q12, denoted arr[hg19]17q12(34477479_36283807)x1.

Discussion

17q12deletion has been described as a susceptibility locus in some ovarian cancers. However, to our knowledge, predisposition to ovarian cancer as a feature of 17q12 recurrent deletion syndrome or MODY5 was not reported previously.

Conclusion

The disease association reported suggests that medical providers should periodically evaluate for ovarian cancer, gut, and urogenital abnormalities in individuals with MODY5. Likewise, individuals with diabetes plus urogenital tract abnormalities or 17q12deletion in an ovarian tumor should undergo genetic testing for MODY5.

Background/Objective

Pancreatitis is a common diagnosis requiring hospital admission, associated with significant costs. Although pancreatitis is an established side-effect with other diabetes medications, such as Glucagon like Peptide-1 Receptor Agonists and Dipeptidyl Peptidase 4 inhibitors, the association with SGLT2 inhibitors is not established. We present a patient with empagliflozin associated drug-induced acute pancreatitis (DIAP) and a review of published case reports.

Case Report

A 57-year-old woman with T2DM presented to the hospital with severe abdominal pain. Her vital signs on presentation were temperature 98.3 F, blood pressure 139/79 mm Hg, pulse 62/min, and respiratory rate 15/min, saturating 99% on room air. Labs were notable for white blood cell count 12.8 (4.5-10.8 10∗3 μl), lipase- 36 (7-60 U/L), calcium- 9.4 (8.5-10.5 mg/dL), and triglycerides- 150 (35-150 mg/dL). Computed tomography abdomen showed induration of the peripancreatic fat, suggesting pancreatitis. No alcohol use was reported. DIAP and idiopathic pancreatitis were considered possible etiologies. Medication history revealed that the patient was started on empagliflozin 2 weeks before this admission. Empagliflozin was discontinued and she was discharged on metformin and glipizide.

Discussion

Sodium Glucose Transporter 2 inhibitors (SGLT2) inhibitors are increasingly used for treating type 2 diabetes mellitus and heart failure. The association of these medications with pancreatitis, its timeline, and the underlying mechanisms are yet to be understood. This case is intended to add to the existing limited literature on this side effect.

Conclusions

With the increasing use of SGLT2 inhibitors, more cases of DIAP are being reported. Physicians need to consider SGLT2 inhibitors as a possible cause of pancreatitis after excluding other etiologies.

Background/Objective

Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of the glycemic levels due to the DM.

Case Report

We present the case of 2 siblings diagnosed with Wolfram syndrome 1, they presented with typical endocrinological and neurodegenerative early manifestations, one brother was treated with a sensor-augmented insulin infusion system, and the other with an insulin pump. Both reached a better metabolic state and had improved quality of life.

Discussion

The management of WS is still a challenge; however, the use of a sensor-augmented insulin infusion system and the information that it provides may offer better care to patients who require frequent monitoring and adjustments in their treatment. It has been reported that the neurodegenerative progression of WS is also associated with high glucose peaks; therefore, it is necessary to control it, even when it is hard due to the difficult-to-manage DM. There is only 1 previous case report of WS with insulin pump that describes the benefits of continuous subcutaneous insulin infusion and tight metabolic control during pregnancy.

Conclusion

The use of insulin pumps may be an effective treatment for DM in WS patients, mainly in terms of improving the prognosis of difficult-to-manage DM.

Background/Objective

To illustrate an unusual case of type 2 diabetes mellitus (T2DM) developing many years after the diagnosis of hyperinsulinism hyperammonemia (HI/HA) syndrome.

Case Report

This article reports about a 36-year-old female with a history of congenital hyperinsulinism due to HI/HA syndrome, which was diagnosed in infancy. The patient presented with hypoglycemia and seizures as an infant and was treated with diazoxide and a low-protein diet for many years with reduction in her hypoglycemic events. She subsequently developed T2DM >30 years later. Genetic analysis was positive for a glutamate dehydrogenase 1 gene (GLUD1) alteration. She was treated with metformin and a glucagon-like peptide 1 agonist, with significant improvement in her blood glucose control and weight loss.

Discussion

HI/HA syndrome is a rare genetic syndrome that manifests in childhood with signs and symptoms of hypoglycemia and neurologic symptoms. This is the first case reported in the literature of a patient with HI/HA syndrome due to a GLUD1 alteration who developed T2DM much later in life. Patients with this disorder usually have recurrent hypoglycemia and require long-term medical therapy or very occasionally may have a resolution. She had class 3 obesity and evidence of insulin resistance, which likely contributed to her risk of diabetes.

Conclusion

This is a rare case of T2DM presenting in a patient with HI/HA syndrome. This should be considered a possible outcome in patients with this disorder, especially in the presence of obesity.

Background/Objective

A patient with well-controlled type 2 diabetes mellitus (T2DM) and a heterozygote for lipoprotein lipase deficiency (HeLPL) presented with chronic chylomicrons (CMs). Some patients with T2DM can develop CMs due to poor glycemic control or genetic defects that result in a decrease in the lipoprotein lipase (LPL) activity. This study aimed to describe a patient with HeLPL with T2DM and persistent CM on maximal standard lipid-lowering therapy who then used tirzepatide as a novel way to treat CM.

Case Report

A patient with well-controlled T2DM with persistent CM and HeLPL was treated with tirzepatide and titrated to 15 mg/week, resulting in resolution of his CM (triglyceride [TG] level, <850 mg/dL) with a 58% reduction in the serum TG level after 2 months and then an 86% reduction after 5 months of therapy. His A1C level and body weight decreased from 6.9% to 6.3% and by 12 lbs in 2 months and then to 5.6% and by 20 lbs after 5 months, respectively.

Discussion

The resolution of CM and reduction in the TG level by tirzepatide cannot be solely explained by an improvement in glycemic control or a decrease in body weight but may also be related to other effects of tirzepatide.

Conclusion

Tirzepatide caused a significant decrease in the TG level in a patient with CM, T2DM, and HeLPL. The mechanism(s) underlying this effect is not completely understood but warrants further study.

Background/Objective

Sodium-glucose cotransporter-2 (SGLT2) inhibitors are part of the treatment for hyperglycemia in patients with diabetes. These drugs have shown important benefits including cardiovascular and renal protection among people with diabetes.

Case Report

We report a case of a 60-year-old woman with diabetes who presented to the emergency department complaining of left flank pain radiating to the groin. The patient was on multiple antidiabetic medications, including a recently added empagliflozin, considering the difficulty in controlling hyperglycemia. She quickly developed severe sepsis with shock, and imaging studies of the abdomen revealed the presence of encapsulated gas in the left kidney compatible with emphysematous pyelonephritis (EPN). There was no presence of nephrolithiasis or other anatomical or structural abnormality that could have precipitated this focal renal infection.

Besides antimicrobials, fluid resuscitation, and vasopressor agents, an emergent surgical nephrectomy, as well as intensive care, was required until the patient fully recovered. Escherichia coli was isolated from the initial blood cultures, and ceftriaxone was administered. The patient was subsequently discharged home in stable condition. Two months later, the patient was readmitted with near-syncope and abdominal pain, which was found to be related to small bowel obstruction. The patient decompensated rapidly and had a cardiac arrest even before surgical evaluation. She was resuscitated and admitted to the intensive care unit but showed no signs of neurologic recovery after the anoxic event. She did not survive this hospitalization.

Discussion

The exposure of SGLT2 inhibitors in this patient seemed to have been the precipitating factor for development of complicated pyelonephritis with gas gangrene. EPN is a consequence of a severe renal parenchymal infection, which carries high mortality even with prompt treatment.

Conclusion

Use of SGLT2 inhibitors has expanded worldwide as there are clear clinical benefits, but we need to recognize their uncommon yet potentially fatal complications, such as EPN.

Background/Objective

Closed-loop insulin infusion systems (CLSs) such as Tandem t:slim with Control-IQ (t:slim CIQ) improve glycemic control and decrease diabetic ketoacidosis (DKA) risk in type 1 diabetes mellitus (T1DM). We report a case of CLS failure, likely from tirzepatide-induced volume depletion, leading to DKA.

Case Report

A 36-year-old woman with T1DM on t:slim CIQ CLS was prescribed tirzepatide for weight loss. Three months later, 4 days after the last tirzepatide injection, she presented with worsening nausea, vomiting, 50-lbs weight loss, minimal oral intake for 3 days, and positive urine ketone result. Her heart rate was 137 beats/min and respiratory rate was 35 breaths/min, and she had Kussmaul breathing, with dry oral mucosa indicating volume depletion. Laboratory examination showed a fingerstick glucose level of 289 mg/dL, serum glucose level of 322 mg/dL, bicarbonate level of 12 mmol/L, and anion gap of 21 mmol/L confirming high-anion-gap metabolic acidosis, suggesting DKA. A concurrent continuous glucose monitor (CGM) reading was 40 mg/dL. The CLS and CGM were removed. DKA resolved within 72 hours (serum glucose level of 143 mg/dL, anion gap of 8 mmol/L, bicarbonate level of 24 mmol/L) on intravenous insulin and fluids. The CLS and CGM were restarted with good glycemic control. Tirzepatide was discontinued to avoid future episodes of volume depletion.

Discussion

Volume depletion affects interstitial fluid glucose levels due to compensatory mechanisms. This may result in CLS failure due to CGM dependence on interstitial glucose measurements, precipitating DKA.

Conclusion

Patients on CLS therapy should be cautioned against CLS failure in volume-depleted states with interstitial glucose–level changes. A back-up plan with multiple daily insulin injections should be discussed.

Background/Objective

Bilateral adrenal hemorrhage is a rare cause of adrenal insufficiency. Cases have been reported of acute adrenal crisis with bilateral adrenal hemorrhage during acute coronavirus disease of 2019 (COVID-19). Our objective was to report a delayed presentation of acute adrenal crisis with bilateral adrenal hemorrhage 2 months after COVID-19.

Case Report

An 89-year-old man who was hospitalized for COVID-19 pneumonia 2 months prior presented with lethargy. He was disorientated and hypotensive to 70/50 mm Hg without improvement with intravenous fluids. According to his family, since his previous hospitalization for COVID-19, his mental status had continued to deteriorate, and he was no longer able to perform activities of daily living. A computed tomography scan of the abdomen revealed bilateral heterogeneous enlargement of the adrenal glands. Laboratory values were significant for an am cortisol level of 8.42 mcg/dL, a sodium level of 134 mEq/L, and a bicarbonate level of 17 mEq/L. He was treated intravenously with hydrocortisone 100 mg and showed rapid improvement.

Discussion

It has been shown that COVID-19 disease may cause an increased risk of bleeding or thromboembolism. The exact frequency of bilateral adrenal hemorrhage secondary to COVID-19 is unknown. Although there are a handful of cases reported, there are none to our knowledge with a delayed presentation, as exhibited in our patient.

Conclusion

The patient’s presentation was consistent with acute adrenal crisis due to bilateral adrenal hemorrhage from prior COVID-19 disease. We aimed to highlight the importance of clinicians being aware of adrenal hemorrhage and adrenal insufficiency as a possible delayed consequence in patients with a history of COVID-19.

Background/Objective

Micronutrient deficiencies such as pellagra are rarely seen after bariatric surgery and can be challenging to diagnose and manage. Alcohol use can precipitate nutritional deficiencies.

Case Report

A 51-year-old woman with a history of Roux-en-Y gastric bypass surgery who later developed an alcohol-use disorder after her diagnosis of breast cancer. She experienced a subacute decline in her physical and cognitive function along with a rash after radiation treatment for breast cancer, lower extremity pain and weakness, anemia, and diarrhea with severe hypokalemia. Workup showed undetectable niacin levels. She initially did not respond to an oral niacin replacement, necessitating intramuscular injections. Alcohol cessation and parenteral B complex replacement led to the resolution of her symptoms and biochemical derangements.

Discussion

Bariatric surgery with concomitant alcohol use can precipitate niacin deficiency–induced liver dysfunction. In the correct clinical setting, screening for alcohol use and checking niacin levels may help avoid extensive testing and can help make the correct diagnosis. Parenteral replacement may be necessary in this setting.

Conclusion

Niacin deficiency needs to be considered in patients with bariatric surgery with a history of alcoholism in the correct clinical setting.