AACE Clinical Case Reports最新文献

{"title":"Elevated Serum Androstenedione Level in a Patient With Ectopic Adrenocorticotropic Hormone Syndrome","authors":"Sherry Zhang MD ,&nbsp;Joan C. Lo MD ,&nbsp;Marc G. Jaffe MD ,&nbsp;Hasmik Arzumanyan MD","doi":"10.1016/j.aace.2023.04.009","DOIUrl":"10.1016/j.aace.2023.04.009","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Ectopic Cushing syndrome can be challenging to diagnose when its presentation is atypical. Herein, we highlight features of ectopic adrenocorticotropic hormone (ACTH) syndrome in a patient with worsening hypertension, hypokalemia, ACTH-dependent hypercortisolism, and disproportionate elevation in serum androstenedione levels.</p></div><div><h3>Case Report</h3><p>A 59-year-old woman presented with rapidly progressing hypertension, severe hypokalemia, confusion, and weakness. Her medical history included well-controlled hypertension receiving amlodipine 5 mg/day, which worsened 3 months prior to admission requiring losartan and spironolactone therapy, with twice daily potassium supplementation. Physical examination was notable for bruising, muscle wasting, thin extremities, facial fullness, and abdominal adiposity despite body mass index 17 kg/m². Laboratory evaluation showed potassium 2.6 mEq/L (3.5-5.3), morning cortisol &gt;50 mcg/dL (8-25), 24-hour urine cortisol 8369 mcg/day (&lt;50), ACTH 308 pg/mL (&lt;46), androstenedione 398 ng/dL (20-75), dehydroepiandrosterone sulfate 48 mcg/dL (≤430), and testosterone 11 ng/dL (≤4.5) levels. A 3.8-cm carcinoid right lung tumor was identified, and resection was performed with clean margins. Cortisol, androstenedione, and potassium levels rapidly normalized postoperatively and blood pressure returned to baseline, well-controlled on amlodipine.</p></div><div><h3>Discussion</h3><p>Our case illustrates disproportionate elevation in androstenedione levels despite normal dehydroepiandrosterone sulfate and testosterone in a woman with ectopic ACTH syndrome. Limited reports have observed similar discordance in androgen profiles in ectopic versus pituitary ACTH hypersecretion, potentially attributable to differential activation of androgen biosynthesis.</p></div><div><h3>Conclusion</h3><p>Adrenal androgen assessment may help differentiate pituitary versus ectopic ACTH secretion in which androstenedione is elevated, but studies are needed to determine whether disproportionate androstenedione elevation reliably predicts the origin of ACTH excess.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 142-145"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41113496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Hyperphosphatemic Tumoral Calcinosis","authors":"Mohammad Saifuddin MD,&nbsp;Indrajit Prasad MD,&nbsp;Mirza Sharifuzzaman MD,&nbsp;Moinul Islam MD,&nbsp;Mobarak Hossain MD","doi":"10.1016/j.aace.2023.05.008","DOIUrl":"10.1016/j.aace.2023.05.008","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 176-177"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41097617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pituitary Stalk Duplication: A Radiological Surprise in a Child With Short Stature","authors":"Surapaneni Lakshmi Sravya MD,&nbsp;Jayshree Swain MD, DM,&nbsp;Jaya Bhanu Kanwar MD, DM,&nbsp;Abhay Kumar Sahoo MD, DM,&nbsp;Swayamsidha Mangaraj MD, DM,&nbsp;Pooja Jadhao MD,&nbsp;Brij Rajesh Teli MD,&nbsp;Kasukurti Lavanya MD","doi":"10.1016/j.aace.2023.06.004","DOIUrl":"10.1016/j.aace.2023.06.004","url":null,"abstract":"<div><h3>Objective</h3><p>Pituitary stalk abnormalities are one of the causes of hypopituitarism. Isolated pituitary stalk duplication with a single pituitary gland is extremely rare with only a few cases reported to date. The present case has a different clinical picture as compared to the cases that were previously reported in the literature.</p></div><div><h3>Case Report</h3><p>A 2 years 6-month-old male child, a product of nonconsanguineous marriage, presented with short stature, micropenis with unilateral undescended testis, and delayed motor milestones. His bone age was delayed by 6 months. On further evaluation, he was found to be euthyroid, with stimulated growth hormone (GH) and stimulated gonadotropin levels were suboptimal, whereas the cortisol and the prolactin were normal. Magnetic resonance imaging of the pituitary revealed pituitary stalk duplication with a single pituitary gland of normal dimensions and fused tuber cinereum and mammillary body.</p></div><div><h3>Discussion</h3><p>To our knowledge, only 7 cases with isolated pituitary stalk duplication were reported. The presenting complaint could be primarily of hypopituitarism like short stature or a neurologic complaint or ocular abnormality. The pituitary hormone deficiencies are variable with GH deficiency being the most common as seen in our case. Other associated features could be the morning glory disc anomaly, moyamoya disease, pituitary adenoma or hypoplasia, split hypothalamus, and sellar dermoid.</p></div><div><h3>Conclusion</h3><p>Pituitary stalk duplication is a developmental disorder that is diagnosed only by imaging. Patients should be evaluated for hypopituitarism, particularly the GH and gonadotrophins deficiency, and also screened for associated neurologic and ocular abnormalities.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 166-169"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41104347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rapid-Acting Insulin Used to Treat a Case of Early Cystic Fibrosis–Related Diabetes Complicated by Post Prandial Hypoglycemia","authors":"Tamar Wolinsky MD ,&nbsp;Barbara Simon MD, FACE","doi":"10.1016/j.aace.2023.07.001","DOIUrl":"10.1016/j.aace.2023.07.001","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Cystic fibrosis–related diabetes (CFRD) is one of the most common nonrespiratory complications of cystic fibrosis (CF). There is a lack of clinical research to provide guidance on optimal treatment regimens for various subtypes of CFRD.</p></div><div><h3>Case Report</h3><p>This case describes an 18-year-old woman, diagnosed with CF in infancy, who presented to our clinic for evaluation of possible CFRD and episodes of hypoglycemia. Subsequent testing revealed normal fasting glucose with elevated blood glucose levels on oral glucose tolerance test, consistent with the diagnosis of CFRD without fasting hyperglycemia. She was found to have large glycemic excursions after carbohydrate-containing meals, followed by delayed postprandial hypoglycemia.</p></div><div><h3>Discussion</h3><p>We initiated low-dose mealtime rapid-acting analog insulin and saw both a decrease in her postprandial hyperglycemia as well as resolution of her hypoglycemic episodes.</p></div><div><h3>Conclusion</h3><p>This case highlights the spectrum of pancreatic dysfunction and insulin dysregulation in CFRD as well as the benefit of prandial insulin alone as a treatment option.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 170-173"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41093889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial for September/October Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor in Chief)","doi":"10.1016/j.aace.2023.09.001","DOIUrl":"10.1016/j.aace.2023.09.001","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Page 141"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41105387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis","authors":"Melvin Khee Shing Leow MD, PhD, MMed (Int Med) ,&nbsp;Joshur Ang MRes ,&nbsp;Xinyan Bi PhD ,&nbsp;Ee Tzun Koh MD, MMed (Int Med), MRCP (UK) ,&nbsp;Craig McFarlane PhD","doi":"10.1016/j.aace.2023.05.004","DOIUrl":"https://doi.org/10.1016/j.aace.2023.05.004","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a case of massive TC mechanistically associated with phosphatonin resistance associated with heterozygous alterations in the sterile alfa motif domain–containing protein-9 gene (<em>SAMD9</em>), alfa 2-Heremans-Schmid glycoprotein gene (<em>AHSG</em>), FSHD region gene 2-family member-C gene (<em>FRG2C</em>), and fibroblast growth factor receptor-4 gene (<em>FGFR4</em>).</p></div><div><h3>Case Report</h3><p>A middle-aged Malay woman with systemic sclerosis presented with painful hard lumps of her axillae, lower limbs, and external genitalia. She was eucalcemic with mild hyperphosphatemia associated with reduced urinary phosphate excretion. Magnetic resonance imaging revealed calcified soft tissue masses. Paradoxically, the serum intact FGF23 level increased to 89.6 pg/mL, corroborated by Western blots, which also showed overexpression of sFRP4 and MEPE, consistent with phosphatonin resistance.</p></div><div><h3>Discussion</h3><p>Whole genome sequencing identified 2 heterozygous alterations (p.A454T and p.T479M) in <em>SAMD9</em>, 2 heterozygous alterations (p.M248T and p.S256T) in <em>AHSG</em>, a frameshift alteration (p.Arg156fs) in <em>FRG2C</em>, and a heterozygous alteration (p.G388R) in <em>FGFR4</em>, all of which are associated with calcinosis. Nonsynonymous alterations of <em>FRP4</em> and <em>MEPE</em> were also detected.</p></div><div><h3>Conclusion</h3><p>This highlights that the simultaneous occurrence of alterations in several genes critical in phosphate homeostasis may trigger massive TC despite their heterozygosity. These findings should prompt functional studies in cell and animal models to reveal mechanistic insights in the pathogenesis of such crippling mineralization disorders.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 153-157"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49711892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced Tumor Size of Untreated Papillary Thyroid Carcinoma After Immune Checkpoint Inhibitor–Induced Thyroiditis","authors":"Dennis H. Chen MD ,&nbsp;Heinz-Josef Lenz MD ,&nbsp;Melissa G. Lechner MD/PhD ,&nbsp;Trevor E. Angell MD","doi":"10.1016/j.aace.2023.05.009","DOIUrl":"10.1016/j.aace.2023.05.009","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Immune checkpoint inhibitors (CPIs) activate antitumoral immune responses and are used to treat multiple types of primary and metastatic malignancies. Thyroid dysfunction is a known immune-related adverse event of CPI therapy. There are few data on the effect of CPI and CPI-induced thyroiditis on primary papillary thyroid carcinoma (PTC). We present a patient who developed CPI-induced thyroiditis during treatment for a nonthyroid malignancy and subsequent regression of a coexisting untreated primary PTC.</p></div><div><h3>Case Report</h3><p>A 49-year-old man with metastatic colon adenocarcinoma was found to have a large right thyroid nodule with biopsy confirmation of PTC. He did not have compressive symptoms or evidence of metastatic PTC. Resection was not performed because of colon cancer therapy. Treatment with CPI (ezabenlimab, an anti–programmed cell death protein 1 antibody) was initiated for the treatment of colon cancer. Four months after the initiation of CPI therapy, testing showed thyroid–stimulating hormone and free thyroxine levels of 174.9 (0.3-4.0 mIU/L) and 0.67 (0.93-1.70 ng/dL), respectively, consistent with CPI-induced hypothyroidism. Levothyroxine therapy was initiated. Repeat imaging 3 months later demonstrated a decrease in the tumor size to 4.1 × 4.9 × 4.2 cm (calculated volume change, −8.3% from baseline). At the last imaging, 1 year after the onset of CPI-induced thyroiditis, the PTC continued to decrease in size and measured 2.9 × 3.9 × 3.2 cm (volume change, −60.7% from baseline).</p></div><div><h3>Discussion</h3><p>CPI-induced thyroiditis suggests the development of an immune response against thyroid tissue and may reflect a similar increased immune response against PTC cells leading to tumor regression in this case.</p></div><div><h3>Conclusion</h3><p>Further research to assess the immunologic mechanism underlying this association is warranted to potentially develop improved immunotherapy for PTC.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 162-165"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41118601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetes Mellitus Type 1 Presenting in the Setting of Diabetic Ketoacidosis and Acute SARS-CoV-2 Infection in Pregnancy","authors":"George A. Stamatiades MD ,&nbsp;Francesca Galbiati MD ,&nbsp;Alison Conway Fitzgerald MD ,&nbsp;Marie E. McDonnell MD ,&nbsp;Sarah C. Lassey MD ,&nbsp;Nadine E. Palermo DO","doi":"10.1016/j.aace.2023.04.006","DOIUrl":"10.1016/j.aace.2023.04.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Diabetic ketoacidosis (DKA) during pregnancy is an obstetric emergency associated with a higher rate of maternofetal morbidity and mortality. Pregnancy itself is a ketosis-prone state and several unique mechanisms predispose to the development of insulin resistance, which can be further exacerbated by acute stressors such as infection. Thus, pregnant patients who additionally contract COVID-19 may be at an even higher risk of development of DKA.</p></div><div><h3>Case Report</h3><p>A 32-year-old patient, with no prior history of impaired glucose tolerance, presented at 27 weeks of gestation with a 3-day history of shortness of breath, congestion, loss of taste and smell, polyuria, and polydipsia. Biochemical evaluation was consistent with DKA. Subsequently, she was diagnosed with acute SARS-CoV-2 infection. Treatment included intravenous hydration, electrolyte replacement, and insulin infusion. Postpartum phenotypic evaluation confirmed autoimmune diabetes (positive GAD-65 and zinc T8 antibodies) with residual β-cell function. Six months postpartum, glycemic control remains at goal with basal- bolus insulin regimen.</p></div><div><h3>Discussion</h3><p>This case describes the peculiar ability of SARS-CoV-2 infection to potentially rouse autoimmunity and how COVID-19 and DKA in pregnancy can be particularly challenging given the risk of significant maternal and fetal morbidity and mortality.</p></div><div><h3>Conclusion</h3><p>Prompt diagnosis and evaluation of DKA in pregnancy as well as a higher level of suspicion is needed in the setting of SARS-CoV-2 infection. Additionally, this case depicts the need for closely monitoring the postpartum period for patients at risk of autoimmune disease, which may have been blunted in pregnancy.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 4","pages":"Pages 108-111"},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9892911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperglycemia Associated With Raynaud Phenomenon and Liver Dysfunction After COVID-19 Vaccination in Type 1 Diabetes Mellitus","authors":"Zhanna Zavgorodneva MD ,&nbsp;Calvin Jialin Zhang ,&nbsp;Maksym Bondiuk MD ,&nbsp;Tooraj Zahedi MD","doi":"10.1016/j.aace.2023.05.006","DOIUrl":"10.1016/j.aace.2023.05.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>The association of COVID-19 vaccinations and the changes in glycemic control remains debatable. We report a case of a patient with type 1 diabetes mellitus (DM) with previously well-controlled glucose on a hybrid closed-loop insulin pump who developed significant glucose variation, new onset Raynaud phenomenon, and liver dysfunction after the vaccination.</p></div><div><h3>Case Report</h3><p>A 33-year-old man with type 1 DM since the age of 5 years was on an insulin pump for 17 years. He had a reasonable controlled glucose level with a hemoglobin A1c level of 6.8% (51 mmol/mol). Three days after he received the COVID-19 vaccination, his glucose level started to fluctuate in the range of 46 to 378 mg/dL with 3.5 times higher total daily insulin requirement. The patient developed white-pale cold hands, weight gain, fatigue, and liver dysfunction. Computed tomography of the abdomen revealed mild hepatomegaly, and laboratory workup was negative for hepatitis. One month later, his glucose level became better controlled, and his liver function improved. Continuous glucose monitoring revealed that his glucose profile returned to baseline after 6 weeks.</p></div><div><h3>Discussion</h3><p>COVID-19 vaccination resulted in significant glucose variation and fluctuations in this patient. It could be explained by the vaccine-induced immune response causing an increase in insulin resistance, such as in adipose tissue and muscle cells. Immune stimulation could have also caused the abnormal liver function and explain his new onset Raynaud phenomenon.</p></div><div><h3>Conclusion</h3><p>We described, for the first time, the long-term continuous glucose monitoring glucose profile with a hybrid closed-loop system in type 1 DM after COVID-19 vaccination. Clinicians need to keep alert to glycemic excursion and side effects after immunization in type 1 DM.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 4","pages":"Pages 131-135"},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9892912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent","authors":"Alexandra E. Grier MD, PhD ,&nbsp;Janet B. McGill MD ,&nbsp;Sandra M. Lord MD ,&nbsp;Cate Speake PhD ,&nbsp;Carla Greenbaum MD ,&nbsp;Chester E. Chamberlain PhD ,&nbsp;Michael S. German MD ,&nbsp;Mark S. Anderson MD, PhD ,&nbsp;Irl B. Hirsch MD","doi":"10.1016/j.aace.2023.04.001","DOIUrl":"10.1016/j.aace.2023.04.001","url":null,"abstract":"<div><h3>Background</h3><p>Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman with a protective human leukocyte antigen (HLA) allele who was originally diagnosed with T1D at 18 years of age.</p></div><div><h3>Case Report</h3><p>Patient A presented with polyuria, polydipsia, and hypertension at the age of 18 years and was found to have a blood glucose &gt; 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) &gt;14% (4%-5.6%). She had an unmeasurable C-peptide but no urine ketones. She was diagnosed with T1D and started on insulin therapy. Antibody testing was negative. She required low doses of insulin and later had persistence of low but detectable C-peptide. At the age of 35 years, she was found to have a protective HLA allele, and genetic testing revealed a pathogenic mutation in the ABCC8 gene. The patient was then successfully transitioned to sulfonylurea therapy.</p></div><div><h3>Discussion</h3><p>Monogenic diabetes diagnosed in adolescence typically presents with mild to moderate hyperglycemia, positive family history and, in some cases, other organ findings or dysfunction. The patient in this report presented with very high blood glucose, prompting the diagnosis of T1D. When she was found to have a protective HLA allele, further investigation revealed the mutation in the sulfonylurea receptor gene, ABCC8.</p></div><div><h3>Conclusion</h3><p>Patients suspected of having T1D but with atypical clinical characteristics such as negative autoantibodies, low insulin requirements, and persistence of C-peptide should undergo genetic testing for monogenic diabetes.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 4","pages":"Pages 101-103"},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9912569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}