Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"New-onset type 2 diabetes mellitus complicated by diabetic ketoacidosis: a sentinel presentation of advanced pancreatic adenocarcinoma.","authors":"Akbar Rasekhi Kazerouni, Sahar Ghahramani, Younes Khayyer, Shayan Yousufzai","doi":"10.1530/EDM-25-0026","DOIUrl":"10.1530/EDM-25-0026","url":null,"abstract":"<p><strong>Summary: </strong>Diabetic ketoacidosis (DKA), typically linked to type 1 diabetes or acute illness in type 2 diabetes, can rarely be triggered by pancreatic adenocarcinoma (PA). Though 80% of PA patients have glucose intolerance, DKA is exceptionally uncommon, with fewer than 20 documented cases. A 52-year-old woman with new-onset type 2 diabetes presented with altered mental status, abdominal pain, and 23 kg weight loss over 2 months. Labs confirmed DKA (glucose: 439 mg/dL, pH 7.1, ketonuria). Elevated tumor markers (CA19-9: >10,000 U/mL, CEA: 365 ng/mL) and imaging revealed a 4 cm pancreatic mass with metastases, biopsy-proven as PA. This case underscores PA as a rare but critical DKA precipitant in new-onset diabetes. Unexplained hyperglycemia, rapid weight loss, and markedly elevated tumor markers should prompt malignancy screening. Early multidisciplinary intervention may improve outcomes in this aggressive cancer. Clinicians must maintain high suspicion for occult PA in atypical DKA presentations.</p><p><strong>Learning points: </strong>Unexplained weight loss alongside newly-identified type 2 DM warrants thorough evaluation for occult malignancy. Elevated CA19-9 and CEA in the context of new-onset diabetes should raise suspicion for pancreatic malignancy. DKA may rarely serve as the initial manifestation of pancreatic cancer in newly-identified type 2 DM cases, necessitating a high index of clinical suspicion.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12122053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152268","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":"Variation in clinical presentation of hospitalized patients with diabetic foot ulcers who underwent lower leg amputation in the Bronx from 2016-2021.","authors":"Ava Tsapatsaris, Denise A Levy, Alyson K Myers, Johanna P Daily, Manasa Kanneganti","doi":"10.1530/EDM-25-0036","DOIUrl":"10.1530/EDM-25-0036","url":null,"abstract":"<p><strong>Summary: </strong>Lower extremity amputation secondary to diabetic foot ulcers (DFU) is associated with a 50% mortality rate within 5 years. The aim of this case series is to understand the risk factors and management of DFU leading to above-knee or below-knee amputation at an urban medical center. We conducted a retrospective review of the medical history, foot examination findings, noninvasive vascular studies, angiographic imaging, and radiology results from hospital stays during which patients underwent amputation. A total of 35 patients with DFU who underwent amputation between 2016 and 2021 were evaluated. Of these, 16 ambulatory patients had complete medical data and were included in the analysis. Risk factors for amputation, clinical presentation, diagnostic findings (e.g. vascular studies or imaging), and amputation approaches were analyzed. Our study found significant variability in the medical history, presentation, and management of patients with DFU who underwent lower extremity amputations, including differences in vascular abnormalities and the timing of care. Poor glucose control (median HbA1c of 10.3%) and delayed presentation likely contributed to tissue loss and amputation. Understanding the individual medical presentations and management of patients undergoing leg amputation secondary to DFU may inform the development of more effective strategies to prevent this complication in patients with diabetes.</p><p><strong>Learning points: </strong>There is significant variability in the presentation and progression of diabetic foot ulcers (DFUs). Diagnostic evaluation of DFU varies between patients; a more standardized evaluation to inform best practices could be useful. Socioeconomic status (SES) plays a role in the increased risk of amputations among DFU patients, including delay in care and access to limb salvage programs. Multidisciplinary care, including early detection of DFU, patient education, and routine screenings, is essential for improving outcomes and reducing the risk of amputations in high-risk DFU patients.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112056","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":"Depot medroxyprogesterone acetate (DMPA)-associated early-onset osteoporotic fracture.","authors":"Yotsapon Thewjitcharoen, Veekij Veerasomboonsin, Soontaree Nakasatien, Thep Himathongkam","doi":"10.1530/EDM-24-0123","DOIUrl":"10.1530/EDM-24-0123","url":null,"abstract":"<p><strong>Summary: </strong>Depot medroxyprogesterone acetate (DMPA) is a highly effective injectable contraceptive, but is associated with reduced bone mineral density (BMD) and increased fracture risk in some studies because it inhibits the hypothalamic-pituitary-ovarian axis. Herein, we present the diagnostic challenging case of a premenopausal woman with an unusual hip fracture and prolonged use of intramuscular DMPA injection. Whole-exome sequencing revealed a rare heterozygous variant of the ALPL gene, which could cause adult-onset hypophosphatasia (HPP). However, it was classified as a variant of unknown significance. Our case highlights the fracture risk from long-term use of DMPA, which is widely used as progestogen-only contraceptive method in low- and middle-income countries. Clinicians should inform women on the potential adverse effect of prolonged use of DMPA for contraception on bone health and advise them to adopt healthy lifestyle habits, with adequate calcium and vitamin D intake.</p><p><strong>Learning points: </strong>Evidence shows that intramuscular depot medroxyprogesterone acetate (DMPA) negatively affects BMD by inhibiting the hypothalamic-pituitary-ovarian axis. However, the risk of bone fragility fracture from DMPA remains uncertain because of paucity of data on fracture incidence. Herein, we present a case of a premenopausal woman with an unusual hip fracture and a history of prolonged use of intramuscular DMPA contraception. Our case also highlights that the patient's clinical presentation is essential for interpreting genetic sequencing results.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081133","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":"Spindle epithelial tumor with thymus-like elements (SETTLE): a surgical case diagnosed preoperatively using fine-needle aspiration cytology.","authors":"Fumiaki Kawano, Teru Chiyotanda, Kazuhiko Nakame, Satoru Meiri, Tsuyoshi Fukushima, Kousei Shirahama, Yuichiro Sato, Hideki Yamaguchi, Makoto Ikenoue, Shun Munakata, Kazuhiro Higuchi, Shinsuke Takeno, Atsushi Nanashima","doi":"10.1530/EDM-25-0014","DOIUrl":"10.1530/EDM-25-0014","url":null,"abstract":"<p><strong>Summary: </strong>Spindle epithelial tumor with thymic-like elements (SETTLE) is an extremely rare tumor that occurs primarily in the thyroid gland. Histologically, SETTLE is characterized by the presence of spindle-shaped epithelial cells and glandular structures. However, it is known that diagnosis via fine-needle aspiration cytology can be challenging. SETTLE predominantly occurs in younger individuals and has a less favorable prognosis compared to differentiated thyroid carcinoma. Therefore, ensuring accurate diagnosis and appropriate treatment is crucial. We encountered a case of spindle epithelial tumor with thymus-like differentiation in a 10-year-old patient for whom the preoperative diagnosis was successfully established through fine-needle aspiration cytology, which facilitated appropriate surgical resection. Comprehensive histopathological examination and immunohistochemical analysis are essential to ensure appropriate management and surveillance of SETTLE.</p><p><strong>Learning points: </strong>A rare thyroid tumor, spindle epithelial tumor with thymic-like elements (SETTLE), was diagnosed preoperatively and treated surgically. SETTLE presents with characteristic histological features that must be recognized for accurate diagnosis. In addition, diagnosis through cytology is often challenging. The primary treatment for SETTLE is surgical intervention as radiotherapy and pharmacological treatments are generally not expected to be highly effective. Radical resection is the only effective treatment, making the selection of the surgical procedure according to the stage of the disease essential.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988604","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":"Therapeutic plasma exchange as a bridge to definitive treatment in severe thyrotoxicosis with propylthiouracil-induced neutropenia.","authors":"Sanja Medenica, Vladimir Prelević, Filip Tomovic, Vivek Jha, Nenad Laketić, Nataša Bajčeta, Mirjana Stojković, Pinaki Dutta","doi":"10.1530/EDM-24-0150","DOIUrl":"10.1530/EDM-24-0150","url":null,"abstract":"<p><strong>Summary: </strong>A 67-year-old Caucasian woman with a history of Graves' disease and atrial fibrillation presented with severe symptoms indicative of an impending thyroid storm, including diarrhea, tremors, palpitations and significant weight loss. Initially treated with methimazole, she was switched to propylthiouracil (PTU) due to an allergic reaction but had to discontinue PTU after developing agranulocytosis. Laboratory tests confirmed suppressed thyroid-stimulating hormone and elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels, alongside neutropenia. The medical team administered high-dose intravenous steroids and granulocyte colony-stimulating factor (G-CSF) in response to her worsening condition and to mitigate infection risk. Despite these measures, her thyroid hormone levels remained high, necessitating therapeutic plasma exchange (TPE). This intervention significantly reduced her thyroid hormone levels and thyrotropin receptor antibodies (TRAb), stabilizing her condition. Post-TPE, she underwent successful radioactive iodine therapy (RAI), which led to a gradual return to euthyroid status and substantial symptomatic relief. Three months post-RAI, she maintained a stable euthyroid state with normalized neutrophil counts, demonstrating the effectiveness of a multidisciplinary approach in managing impending thyroid storm complications. This case highlights the importance of timely and integrated therapeutic interventions in managing life-threatening endocrine emergencies.</p><p><strong>Learning points: </strong>This case highlights the importance of early recognition and management of agranulocytosis induced by antithyroid drugs, particularly in the context of Graves' disease. Therapeutic plasma exchange (TPE) can be an effective bridging therapy for rapid thyroid hormone reduction in thyroid storm, especially when conventional treatments are insufficient or contraindicated. Quick and effective intervention is essential in managing thyroid storm to prevent systemic decompensation, highlighting the importance of a timely and coordinated treatment approach. The role of TPE in managing severe hyperthyroidism underscores the need for flexibility and innovation in critical endocrine emergencies.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022876","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":"Necrolytic migratory erythema following prolonged continuous subcutaneous dasiglucagon administration: a rare dermatologic adverse event.","authors":"Lucas Weschle, Jenny Potratz, Frank Rutsch, Alexander Humberg, Sandra Oesingmann, Andreas Pascher, Alexander S Busch, Katja Masjosthusmann","doi":"10.1530/EDM-25-0006","DOIUrl":"https://doi.org/10.1530/EDM-25-0006","url":null,"abstract":"<p><strong>Summary: </strong>Clinical management of congenital hyperinsulinism (CHI) remains a significant challenge due to its complex pathophysiology and the limitations of available therapies. Dasiglucagon, a synthetic glucagon analog, represents a novel approach to managing CHI, particularly in patients where conventional therapies fail. This report discusses a rare case of prolonged continuous subcutaneous dasiglucagon use in a neonate with CHI. Despite initial stabilization of glycemic levels, the patient developed necrolytic migratory erythema (NME), a rare dermatological condition associated with hyperglucagonemia, during dasiglucagon therapy. The patient further experienced severe malnutrition, zinc and amino acid deficiencies, and sepsis. Following the discontinuation of dasiglucagon therapy due to these severe side effects, the patient's skin and nutritional status improved markedly. However, glycemic control required subtotal pancreatectomy. This report underscores the potential of dasiglucagon in CHI management but highlights the importance of close monitoring during prolonged therapy.</p><p><strong>Learning points: </strong>NME, a rare but severe condition, appears to be associated with prolonged continuous subcutaneous dasiglucagon therapy, requiring early recognition and intervention. Close monitoring is essential during prolonged continuous subcutaneous dasiglucagon therapy to detect potential adverse effects, focusing on dermatological conditions, nutrient deficiencies or signs of infection. Multidisciplinary care is crucial to manage CHI with dasiglucagon, ensuring a comprehensive approach that addresses both glycemic control and potential side effects.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039173","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":"Adrenocortical carcinoma classified as benign: the limitations of washout values.","authors":"P S Yap, S Philip, A J Graveling, D McAteer, S Aspinall, P Abraham","doi":"10.1530/EDM-24-0022","DOIUrl":"https://doi.org/10.1530/EDM-24-0022","url":null,"abstract":"<p><strong>Summary: </strong>The new European Society of Endocrinology guidelines on the management of adrenal incidentalomas suggest discussion in a multidisciplinary meeting and consideration of additional imaging for homogenous lesions with a density >20 Hounsfield units (HU) and size <4 cm. We report a case of a 29-year-old woman who presented with benign-looking lesion on CT adrenals based on washout values, which was diagnosed as malignant on subsequent imaging. Initial hormonal work-up was normal. Two years later, the lesion had grown to 17 × 11 cm. Repeat hormonal work-up showed a raised urinary steroid profile and androstenedione along with an abnormal overnight dexamethasone suppression test. Our case report highlights a lesion being classified as benign based on washout recommendations subsequently diagnosed as adrenocortical carcinoma. We have reviewed our current clinical cohort and literature to assess the impact of the updated European guidelines on our practice, with particular reference to the use of HU.</p><p><strong>Learning points: </strong>For the assessment of adrenal incidentalomas, CT washout values have limitations and should be interpreted with caution. Additional imaging may be required for lesions above 10 HU and this can vary according to centre expertise and availability. An adrenal lesion with a high HU value warrants follow-up imaging even if post-contrast washout values favour an adenoma. Adrenal incidentaloma are less common in younger patients, but are more likely to be clinically significant and/or malignant, so clinicians should have a lower threshold for surgery or interval imaging in indeterminate cases.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039536","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":"Sequential development of hyperinsulinemic hypoglycemia and type 1 diabetes mellitus in a male child with trisomy 13.","authors":"Satoru Sugimoto, Hidechika Morimoto, Tatsuji Hasegawa, Yasuhiro Kawabe","doi":"10.1530/EDM-25-0001","DOIUrl":"https://doi.org/10.1530/EDM-25-0001","url":null,"abstract":"<p><strong>Summary: </strong>We present a rare case of a 19-month-old boy with trisomy 13 who initially presented with hyperinsulinemic hypoglycemia (HH) at 1 month of age and later developed type 1 diabetes mellitus (T1DM). While cases of HH or T1DM alone have been reported in trisomy 13 patients, this is the first known report of both conditions occurring sequentially in a single individual. No previous reports have described the sequential progression from HH to T1DM in any population, highlighting this as an unprecedented clinical observation. This case underscores the complex nature of metabolic disorders in trisomy 13 and provides insights into the underlying mechanisms linking this chromosomal anomaly to the development of both HH and T1DM.</p><p><strong>Learning points: </strong>Sequential progression from HH to T1DM in both trisomy 13 and the general population is unprecedented. The coexistence and progression of HH and T1DM underscore the intricate and multifaceted nature of metabolic disorders in trisomy 13. Routine monitoring of blood glucose and C-peptide levels may facilitate the detection of metabolic transitions in patients with trisomy 13.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032460","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":"Multi-disciplinary collaboration in diagnosing thymic hyperplasia in a Graves' disease patient.","authors":"Khin Yadanar Kyaw, Min Thant Lwin, Alistair Gummow, Antonia Ugur","doi":"10.1530/EDM-24-0125","DOIUrl":"https://doi.org/10.1530/EDM-24-0125","url":null,"abstract":"<p><strong>Summary: </strong>Thymic hyperplasia in Graves' disease is rarely identified due to the absence of routine imaging, but not uncommonly present. It is usually seen when imaging is performed for other reasons. Despite thymic hyperplasia becoming a more commonly identified occurrence, follow-up imaging scans and multi-disciplinary team (MDT) approach are still recommended to distinguish this benign transformation from more significant differentials. These steps can lead to distress in patients. Therefore, clinicians and radiologists being aware of this correlation between thymic hyperplasia and Graves' disease can add reassurances about the most likely diagnosis whilst the patient is undergoing limited further investigation to rule out differentials and subsequently, avoid unnecessary intervention. Here, we report a case of Graves' disease with thymic hyperplasia in a young woman who initially presented with non-specific eye symptoms and incidental mediastinal mass, in which involvement of multiple speciality teams was important to rule out thymoma and myasthenia gravis (MG).</p><p><strong>Learning points: </strong>Although Graves' disease with thymic hyperplasia is not uncommon, it is sometimes difficult to diagnose with one imaging scan due to the overlap of radiological characteristics of other important differentials; an MDT discussion and further imaging scans are needed to confirm the diagnosis in some cases. Getting MDT involvement early would quickly assist in ruling out more significant differentials and avoid unnecessary surgical intervention by concluding thymic hyperplasia. Clinicians having knowledge on the relation between Graves' disease and thymic hyperplasia may reassure the patient by explaining the possible resolution with treatment, while awaiting further MDT discussion. To rule out ocular MG in Graves' disease patients, additional investigations and neurology referral are often required as the serum antibody tests are less sensitive in ocular MG than generalised MG.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812484","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":"Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH.","authors":"Minal Pande, Shinjan Patra, Kishore K Katam, Dhivya Darshini S","doi":"10.1530/EDM-25-0004","DOIUrl":"10.1530/EDM-25-0004","url":null,"abstract":"<p><strong>Summary: </strong>11β-hydroxylase deficiency (11βOHD) (5-7%) is an uncommon cause of congenital adrenal hyperplasia compared to 21-hydroxylase deficiency (21OHD) (90%). We report a case of a 5-year-old boy who presented with gonadotropin-independent precocious puberty along with hypertension, generalized hyperpigmentation and hypokalemia. 17-hydroxyprogesterone came raised along with low stimulated cortisol. With the unavailability of urinary steroid profiling and serum 11-β deoxycortisol levels, we went ahead with molecular analysis of the patient. It confirmed exon deletion (1-6) of CYP11B1 and exon deletion (8-9) of the CYP11B2 gene, and the diagnosis of 11βOHD was substantiated. The patient was started on oral hydrocortisone tablet and responded promptly regarding blood pressure normalization and hypokalemia resolution. This case highlights the importance of discriminatory features of hypertension and hypokalemia, which can effectively differentiate from 21OHD to 11βOHD clinically. In addition, we have reported a comparatively rare genetic finding of 1-6 exon deletion in the CYP11B1 gene.</p><p><strong>Learning points: </strong>CYP11B1 OHD should be considered one of the primary differentials for boys presenting with precocious puberty and hypertension. 11βOHD can cause childhood-onset salt-wasting episodes and, later, significant hypertension with precocious puberty. Increased 17-hydroxyprogesterone can be found in both 21OHD and 11 βOHD cases; significant hypertension and hypokalemia are discriminatory clinical findings besides renin, aldosterone assay and molecular analysis. Prompt initiation of glucocorticoids, the mainstay of the treatment of 11βOHD, retards pubertal progression and normalizes blood pressure. Additional antihypertensives can be used in refractory cases.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796323","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}