Deedar Ahmad Mian MBBS , Zaryab Ali Shah MBBS , Muhammad Tabish Ikram MBBS , Komal Fatima MBBS , Hasnain Hamid MBBS , Haseeb Ahmad MBBS
{"title":"A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier","authors":"Deedar Ahmad Mian MBBS , Zaryab Ali Shah MBBS , Muhammad Tabish Ikram MBBS , Komal Fatima MBBS , Hasnain Hamid MBBS , Haseeb Ahmad MBBS","doi":"10.1016/j.aace.2024.12.006","DOIUrl":"10.1016/j.aace.2024.12.006","url":null,"abstract":"<div><h3>Background/Objective</h3><div>This report presents a case of Bardet-Biedl Syndrome (BBS) in a 12-year-old boy from a nonconsanguineous Pakhtoon family in Peshawar, Pakistan, exploring its clinical complexity in a region with previously undocumented prevalence. First identified in the 19th century, BBS is a rare autosomal recessive disorder known for its variable symptomatology and genetic heterogeneity, primarily affecting children with a familial history of consanguinity.</div></div><div><h3>Case Report</h3><div>The subject exhibited hallmark features including polydactyly, syndactyly, developmental delays, central obesity, retinitis pigmentosa, and newly diagnosed diabetes mellitus, diverging from typical consanguineous patterns observed in most BBS cases and reflecting the diverse clinical manifestations of the syndrome. Despite challenges in diagnosis and management, accentuated by limited regional healthcare resources, a comprehensive management plan was formulated, leading to controlled blood sugar levels.</div></div><div><h3>Discussion</h3><div>This case emphasizes the need for increased awareness, improved diagnostic capabilities, and comprehensive management strategies in Pakistan to address the complexities of BBS effectively, particularly in settings with high consanguinity rates and specific cultural marital practices.</div></div><div><h3>Conclusion</h3><div>This case underscores the importance of heightened clinical awareness and early recognition among healthcare providers, particularly in regions where cultural practices, such as consanguineous marriages, may predispose to genetic syndromes like BBS.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 121-125"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644019","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":"A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors","authors":"Talita Fischer Oliveira MD, MSc , Humberto Batista Ferreira MD, MSc , Luís Henrique Dias Lima MD , Anna Luiza Braga Albuquerque , Juliana Beaudette Drummond MD, PhD , Beatriz Santana Soares MD, PhD","doi":"10.1016/j.aace.2024.12.007","DOIUrl":"10.1016/j.aace.2024.12.007","url":null,"abstract":"<div><h3>Background</h3><div>Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder characterized by the occurrence of combined tumors in different glands, usually the parathyroid, pancreas and pituitary, as well as in other parts of the digestive tract. The present study describes the phenotype of a Brazilian family with MEN1 caused by a previously unreported <em>MEN1</em> gene mutation.</div></div><div><h3>Case Report</h3><div>We report the case of a 41-year-old male, the proband, who presented with angiofibromas, primary hyperparathyroidism, macroprolactinoma, and pancreatic neuroendocrine tumor. Next generation sequencing analysis of the <em>MEN1</em> gene in the patient's peripheral blood DNA sample revealed a deletion of 16 base pairs (c.1366-12_1369del;p) resulting in a framing error. Additional 5 members of the family (4 brothers and a first cousin) presented with clinical features of MEN1. All brothers underwent mutation screening and tested positive for the same genetic variant. Two of them were also diagnosed with papillary thyroid carcinoma.</div></div><div><h3>Discussion</h3><div>The c.1366-12_1369del;p mutation is located between the 10th and last exon of the <em>MEN 1</em> gene and it's preceding intron, encompassing the canonical sites in the splice junction. The 10th exon of <em>MEN1</em>, possibly lost with this variant, encodes the last 163 amino acids that compose the Menin protein's C-terminal region, which harbors nuclear localization signals essential for its internalization into the nuclear compartment and interaction with the nuclear matrix.</div></div><div><h3>Conclusion</h3><div>Our case reports add to the literature the description of a new pathogenic variant of the MEN 1 gene.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 126-130"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644020","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":"Parathyroid Crisis and Thromboembolism: Association or Coincidence?","authors":"Zhanna Zavgorodneva MD , Irving Guatemala MD , Tooraj Zahedi MD , Fan Zhang MD, PhD","doi":"10.1016/j.aace.2024.12.005","DOIUrl":"10.1016/j.aace.2024.12.005","url":null,"abstract":"<div><h3>Background/Objective</h3><div>The association between hypercalcemia and the risk of thromboembolic events is not clearly understood. Here, we present a unique case of a patient diagnosed with bilateral pulmonary thromboembolism in the setting of a parathyroid crisis due to primary hyperparathyroidism (PHPT). Our case may suggest a potential correlation between thromboembolism and PHPT with severe hypercalcemia. Nowadays just a few case reports provide support for this association, particularly in the settings of significant calcium and parathyroid hormone (PTH) derangement.</div></div><div><h3>Case Report</h3><div>A 70-year-old woman presented to the hospital with a few weeks’ onset of fatigue, difficulty walking, and shortness breath. Laboratory investigations revealed significantly elevated serum calcium (19.2 mg/dL) and PTH (1156 pg/mL) levels. Her past medical history was significant for PHPT with mild hypercalcemia since 2014. Computerized tomography and thyroid ultrasound of the neck showed a high suspicion of a left parathyroid adenoma. A computerized tomography angiogram of the chest revealed a bilateral lower lobe pulmonary embolism. The patient underwent medical management for hypercalcemia and pulmonary embolism, followed by parathyroidectomy. Pathology reports confirmed the diagnosis of parathyroid adenoma.</div></div><div><h3>Discussion</h3><div>The clinical significance of hyperparathyroidism, leading to subsequent hypercalcemia and its association with the development of a procoagulable state, has been elucidated in a very limited number of case reports.</div></div><div><h3>Conclusion</h3><div>This case suggests that parathyroid crisis with hypercalcemia could potentially provoke thromboembolic events. However, this phenomenon could be explained by an extremely high level of PTH and calcium.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 117-120"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644018","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":"Osteitis Fibrosa Cystica With Complete Bony Destruction","authors":"Khalid N. Sheikh MD, Pratima V. Kumar MD","doi":"10.1016/j.aace.2024.11.007","DOIUrl":"10.1016/j.aace.2024.11.007","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 155-157"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644574","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":"An Unexpected Endocrine Disorder Found During Nasal Endoscopy","authors":"Arjun Patel MD, Vinh Mai DO","doi":"10.1016/j.aace.2025.01.004","DOIUrl":"10.1016/j.aace.2025.01.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 160-162"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644752","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}
Hye Jeong Han DO , Jacob Moalem MD , Angela R. Shih MD , Benjamin J. Gigliotti MD
{"title":"Insulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4","authors":"Hye Jeong Han DO , Jacob Moalem MD , Angela R. Shih MD , Benjamin J. Gigliotti MD","doi":"10.1016/j.aace.2024.11.009","DOIUrl":"10.1016/j.aace.2024.11.009","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Multiple endocrine neoplasia 4 (MEN4) is a rare syndrome caused by germline mutations in CKDN1B, and it shares clinical manifestations with MEN1, including primary hyperparathyroidism, pituitary adenomas, and pancreatic neuroendocrine tumors (NETs). The prevalence of MEN4 is <1 per million, whereas prevalence of MEN1 is between 1/10 000 and 1/30 000.</div></div><div><h3>Case Report</h3><div>A 51-year-old woman presented with symptomatic hypoglycemia and incidental hypercalcemia. Workup revealed a fasting plasma glucose level of 41 mg/dL (60-99 mg/dL), proinsulin level of 84.3 pmol/L (≤8.0 pmol/L), insulin level of 24 uIU/mL (3-25 uIU/mL), c-peptide level of 5.2 ng/mL (1.1-4.4 ng/mL), and β-hydroxybutyrate level of 0.34 mmol/L (0.02-0.27 mmol/L), consistent with endogenous hyperinsulinism. Computed tomography scan of the abdomen revealed a 1.5 × 1.1 × 1.0 cm pancreatic head nodule. She underwent pancreaticoduodenectomy, and pathology demonstrated a well-differentiated neuroendocrine tumor with no metastases. She became normoglycemic after surgery, and additional workup revealed primary hyperparathyroidism. Germline testing revealed a variant of unknown significance in CDKN1B (p.R93W).</div></div><div><h3>Discussion</h3><div>Both MEN1 and MEN4 result from decreased expression of p24 and exhibit similar clinical phenotypes, but there are subtle differences in penetrance and natural history. About 10% of patients with MEN1 have insulinomas, but no insulinomas have been reported in MEN4. primary hyperparathyroidism in MEN4 exhibits a lower risk of recurrence after parathyroidectomy. This case highlights the importance of germline genetic testing when a patient presents with manifestations of MEN1.</div></div><div><h3>Conclusion</h3><div>To our knowledge, this is the first reported case of insulinoma in MEN4.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 93-97"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644056","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}
Nick A. Kamkari BS, Ryan Chen BA, Isaac Bronson MS, Christopher Coyne MD
{"title":"Acral Mesenchymal Tumor Leading to Tumor-Induced Osteomalacia: Case Report and Literature Review","authors":"Nick A. Kamkari BS, Ryan Chen BA, Isaac Bronson MS, Christopher Coyne MD","doi":"10.1016/j.aace.2024.12.013","DOIUrl":"10.1016/j.aace.2024.12.013","url":null,"abstract":"<div><h3>Objective/Background</h3><div>Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive secretion of fibroblast growth factor 23 (FGF-23) by phosphaturic mesenchymal tumors. This leads to hypophosphatemia, vitamin D deficiency, and impaired bone metabolism. TIO is often misdiagnosed due to its rarity and nonspecific symptoms.</div></div><div><h3>Case Report</h3><div>We report a 58-year-old male presenting with multiple nontraumatic fractures, muscle weakness, and functional decline. Laboratory evaluation revealed hypophosphatemia, elevated parathyroid hormone, reduced 1,25-dihydroxyvitamin D, and markedly elevated FGF-23 levels. Imaging identified a soft tissue mass in the plantar region of the right foot, which was confirmed as a phosphaturic mesenchymal tumor upon pathological analysis. The patient underwent surgical resection, resulting in rapid normalization of biochemical abnormalities, including serum phosphorus, parathyroid hormone, and 1,25-dihydroxyvitamin D, within 5 days.</div></div><div><h3>Discussion</h3><div>This case underscores the importance of recognizing TIO in patients with unexplained hypophosphatemia and fractures. The curative potential of tumor resection was demonstrated with rapid biochemical and clinical improvement. Diagnostic challenges often arise due to the rarity and atypical presentation of these tumors, particularly in uncommon locations such as the plantar region. Emerging therapies, such as FGF-23 inhibitors like burosumab, provide alternatives for nonlocalizable or unresectable tumors.</div></div><div><h3>Conclusion</h3><div>This case emphasizes the need for increased clinician awareness, multidisciplinary approaches, and advances in diagnostic imaging to reduce delays in diagnosing TIO. Further research is necessary to elucidate the pathophysiology, explore genetic associations, and improve treatment options for this debilitating condition.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 2","pages":"Pages 143-147"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644571","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}
Gustavo Tempone Cardoso Penna MS , Carolina Costa Figueiredo MD, MSc , Nara Michelle de Araújo Evangelista MD, MSc , Vânia de Fátima Tonetto Fernandes MD, PhD , Patricia Salmona MD , Guido de Paula Colares Neto MD, PhD
{"title":"Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response","authors":"Gustavo Tempone Cardoso Penna MS , Carolina Costa Figueiredo MD, MSc , Nara Michelle de Araújo Evangelista MD, MSc , Vânia de Fátima Tonetto Fernandes MD, PhD , Patricia Salmona MD , Guido de Paula Colares Neto MD, PhD","doi":"10.1016/j.aace.2024.09.004","DOIUrl":"10.1016/j.aace.2024.09.004","url":null,"abstract":"<div><h3>Background/Objective</h3><div>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.</div></div><div><h3>Case Report</h3><div>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.</div></div><div><h3>Discussion</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 18-23"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078408","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 Interruption Syndrome: A Case and Literature Review","authors":"Anuja Choure MD , Leena Shahla MD","doi":"10.1016/j.aace.2024.09.007","DOIUrl":"10.1016/j.aace.2024.09.007","url":null,"abstract":"<div><h3>Background/Objective</h3><div>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.</div><div>PSIS is typically diagnosed in childhood. The objective of this report is to describe a patient with PSIS whose diagnosis was missed until adulthood.</div></div><div><h3>Case Report</h3><div>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.</div></div><div><h3>Discussion</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 29-31"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078430","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}
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