Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"Atypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India.","authors":"Ananda Mohan Chakraborty, Jayaditya Ghosh, Liza Das, Rajender Kumar, Uma Nahar, Debajyoti Chatterjee, Sanja Medenica, Ashutosh Rai, Pinaki Dutta","doi":"10.1530/EDM-25-0098","DOIUrl":"10.1530/EDM-25-0098","url":null,"abstract":"<p><strong>Summary: </strong>Medullary thyroid carcinoma (MTC) constitutes 5-10% of thyroid malignancies but accounts for 15% of thyroid cancer-related mortality. Twenty percent of MTC are hereditary and are part of familial MTC or multiple endocrine neoplasia (MEN) syndromes. Classical MTC presents as a nodular goiter with or without lymphadenopathy, or occasionally diarrhea and metastatic symptoms. Several patients in our cohort had unusual features that delayed diagnosis. The standard management remains surgical resection, with tyrosine kinase inhibitors (TKIs) in RET mutation-positive or RET mutation-negative metastatic cases and/or Lutathera peptide receptor radionuclide therapy (PRRT) used in disseminated disease, and external beam radiotherapy for locally aggressive or infiltrative retaining a limited role. However, some patients developed therapy-related complications or exhibited resistance to treatment. Of the 80 MTC patients reviewed, this case series highlights 10 atypical presentations in nine cases : 3 unusual tumors along with MTC, namely chondrosarcoma, carcinoma prostrate, and ectopic Cushing's syndrome; 4 unusual associations or presenting manifestations: pneumoconiosis masquerading as lung metastasis, Marfanoid habitus in MEN-2A and VHL spectrum disease, 1 with skull metastasis, and 2 cases with TKI-related complications in the form of glomerulonephritis and one patient displayed Marfanoid habitus with a RET mutation but without MEN2B or fibrillin gene mutation, while another developed bowel perforation secondary to lenvatinib therapy emphasizing diagnostic and therapeutic challenges and rare tumor associations. This series underscores the heterogeneity of MTC and the need for thorough evaluation and personalized management. Greater clinician awareness of MTC's diverse presentations is essential to improve early diagnosis and optimize treatment outcomes.</p><p><strong>Learning points: </strong>Diverse and atypical clinical presentations can obscure the diagnosis of MTC. Management of MTC remains complex due to therapy-related complications and resistance. Molecular diagnostics enable better risk stratification and personalized care.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12850630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087442","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":"Unusual cause of post-bariatric non-insulin-mediated hypoglycemia due to adult growth hormone deficiency.","authors":"Alhussain M Hakami, Mohammed Ali Summ, Ashwag Alfagih, Mohammed Ahmed Alhazmi, Aiyl Nami","doi":"10.1530/EDM-25-0068","DOIUrl":"10.1530/EDM-25-0068","url":null,"abstract":"<p><strong>Summary: </strong>We report a 26-year-old woman, five years after sleeve gastrectomy, who presented with a two-year history of recurrent postprandial hypoglycemia. During symptomatic episodes (blood glucose as low as 37 mg/dL), she experienced adrenergic symptoms (tremors, hunger, and sweating) and neuroglycopenic symptoms (dizziness), with one brief episode of syncope. Initial evaluations showed normal liver and renal function, thyroid profile, electrolytes, and HbA1c. Adrenal insufficiency was ruled out (elevated morning cortisol), and a toxicology screen for hypoglycemic agents was negative. A supervised 72 h fast provoked symptomatic hypoglycemia at 16 h (plasma glucose: 41 mg/dL), with appropriately suppressed insulin and C-peptide levels, confirming a non-insulin-mediated hypoglycemia. Venous blood gas during hypoglycemia revealed high-anion-gap metabolic acidosis with minimal lactate elevation, plus positive ketones, consistent with a ketotic hypoglycemia. Given her short stature (144 cm) and these findings, we investigated the growth hormone (GH) axis. Insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) were markedly low at baseline. GH levels were inappropriately low during the hypoglycemic episode. A glucagon stimulation test showed a peak GH of only 0.07 ng/mL, confirming severe GH deficiency. Other pituitary hormones were within normal ranges, and pituitary MRI showed no abnormalities. The patient was started on low-dose recombinant human GH replacement therapy, gradually titrated to normalize IGF-1. With GH therapy, her hypoglycemic episodes completely resolved and she reported improved energy and an ability to fast without symptoms.</p><p><strong>Learning points: </strong>Short stature in adults should prompt re-evaluation, especially when presenting with unexplained metabolic disturbances such as recurrent hypoglycemia. Adult GH deficiency is a rare but important cause of recurrent hypoglycemia, particularly in patients with short stature or a history of endocrine disorders. Postprandial hypoglycemia in non-diabetic patients after bariatric surgery warrants consideration of both insulin-mediated and non-insulin-mediated etiologies, including hormonal deficiencies. GH replacement therapy can lead to resolution of hypoglycemia and improved metabolic stability in post-bariatric patients with isolated GH deficiency. Adult GH deficiency should be considered in post-sleeve gastrectomy patients presenting with unexplained non-insulin-mediated hypoglycemia, particularly when clinical or historical clues are present.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12850629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285498","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":"RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.","authors":"Prethivan Pillai Gopalakrishnan, Amit Banerjee, Rachael Milne, Rebecca Smith, Steven John McNulty, Sumudu Bujawansa, Ram Prakash Narayanan","doi":"10.1530/EDM-25-0142","DOIUrl":"10.1530/EDM-25-0142","url":null,"abstract":"<p><strong>Summary: </strong>RFX6 maturity-onset diabetes of the young (RFX6-MODY) is a relatively new MODY subtype, with limited guidance on management, particularly in pregnancy. We report the clinical features and management of two female patients with RFX6-MODY and their progression during and post-pregnancy. These patients were diagnosed with type 2 diabetes mellitus (DM) at ages 13 and 19 years, initially managed on dietary modification alone. They were subsequently diagnosed with RFX6-MODY during pregnancy following calculation of MODY probability. Both required insulin during pregnancy and delivered healthy babies at 38 weeks. Three months post-delivery, tirzepatide was started for one of our patients and she has shown significant glycaemic improvement and weight loss. To our knowledge, this is the first reported use of tirzepatide in RFX6-MODY.</p><p><strong>Learning points: </strong>RFX6-MODY may present at a much earlier age than previously reported in the literature. Many patients with RFX6-MODY do not appear to require insulin at diagnosis. Tirzepatide may be a beneficial therapeutic option for managing patients with RFX6-MODY who have adequate β-cell function. Pregnancy management in patients with RFX6-MODY is similar to type 2 DM, although higher insulin doses may be required.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12850626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120512","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":"From herbal hope to hormonal havoc: chronic ashwagandha use and HPA axis suppression.","authors":"Juveria Javid, Sumana Reddy Kunnuru, Beatrice Anne, Sania Muskan","doi":"10.1530/EDM-25-0076","DOIUrl":"10.1530/EDM-25-0076","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Summary: &lt;/strong&gt;This case report describes a 55-year-old postmenopausal woman who presented with Cushingoid features and progressive weight gain over a year. Evaluation revealed low basal cortisol levels and a suboptimal response to the ACTH stimulation test, indicative of adrenal insufficiency. Further investigation into her medication regimen uncovered her consistent use of approximately 950 mg of ashwagandha daily for over a year, prescribed by a local practitioner for symptomatic relief of bilateral knee osteoarthritis. A review of the existing literature suggested a potential cortisol-suppressing effect of ashwagandha, leading to the establishment of a causal link between the patient's symptoms and her consumption of the ashwagandha extract. She was advised to discontinue the alternative medication and commenced on hydrocortisone replacement, adjusted for her body surface area. A three-month follow-up indicated that her hypothalamic-pituitary-adrenal (HPA) axis suppression had not yet reversed, necessitating continued hydrocortisone supplementation and bimonthly monitoring of her basal and stimulated cortisol levels. This case report underscores the perils of unsupervised exposure to poorly understood compounds prevalent among the general public. It also highlights the role of online platforms and social media in promoting unverified practices and treatments with spurious claims of efficacy and safety, often in contrast to well-researched, modern treatment regimens. Through this case report, we would like to stress upon the importance of imposition of stringent regulations on social media and websites that disseminate unverified information. Furthermore, we emphasize that incentivizing and promoting health literacy among the general population is an urgent imperative.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Learning points: &lt;/strong&gt;Clinicians should be familiar with commonly used herbal remedies and their potential endocrine and systemic effects, particularly in the context of unexplained hormonal dysfunction. Cushingoid features and secondary adrenal insufficiency in the absence of exogenous steroid use should prompt clinicians to enquire specifically about herbal supplement intake, including dose, formulation, and duration. Both clinicians and the public should be aware that excessive doses and prolonged use of ashwagandha can lead to Cushingoid features and sustained suppression of the HPA axis. The widespread belief that 'natural' always equates to 'safe' needs to be actively challenged through public education campaigns and clinician-led counseling. Herbal products can cause deleterious health effects and are not inherently benign. There is a pressing need for health authorities to establish evidence-based guidelines for the safe use of ashwagandha and other commonly used herbal products, including daily dose limits and duration. International regulatory oversight and policies are essential to counter the growing misinformation around traditional a","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12824993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146004323","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":"Papillary thyroid carcinoma in thyroglossal duct cyst: a Peruvian case series.","authors":"José Luis Paz-Ibarra, Marialejandra Delgado Rojas, Edward Paucar Holgado, Jenyfer María Fuentes-Mendoza, Luis Concepción-Urteaga, Juan Eduardo Quiroz-Aldave, Marcio José Concepción-Zavaleta, José Somocurcio Peralta","doi":"10.1530/EDM-25-0139","DOIUrl":"10.1530/EDM-25-0139","url":null,"abstract":"<p><strong>Summary: </strong>Papillary thyroid carcinoma (PTC) is the most frequent type of differentiated thyroid cancer, while thyroglossal duct cysts (TGDCs) are common congenital anomalies of the neck. The coexistence of PTC within a TGDC is exceptionally rare, with a reported incidence of less than 1.5%. We present three Peruvian cases of PTC arising in TGDCs. The patients (two females and one male; age range: 34-47 years) presented with progressive midline cervical masses of two to four years' duration. All underwent cervical ultrasound, contrast-enhanced computed tomography, and fine-needle aspiration biopsy. Histopathology confirmed PTC, including classical and follicular variants. Surgical management varied: two patients underwent Sistrunk procedure alone, while one required Sistrunk surgery followed by total thyroidectomy, cervical lymph node dissection, and radioactive iodine (RAI) therapy. All patients remain disease-free after 6-12 years of follow-up. The diagnosis of carcinoma in TGDC is often incidental, but preoperative imaging and cytology can raise suspicion. Optimal management remains controversial; while the Sistrunk procedure may be sufficient in most cases of PTC confined to TGDC without extracapsular extension, in some scenarios, such as the presence of suspicious thyroid nodules, extracystic extension, and cervical lymph node metastasis, an additional thyroidectomy and RAI therapy may be warranted. In conclusion, PTC in TGDC is a rare entity with generally favorable prognosis. Early recognition, individualized treatment, and multidisciplinary decision-making are essential for optimal outcomes.</p><p><strong>Learning points: </strong>Suspect malignancy in any persistent or enlarging midline neck mass, especially when imaging shows solid components or calcifications. FNAB may have variable diagnostic yield in cystic lesions due to low cellularity; accuracy can be improved by aspirating cystic contents first or targeting the solid components of the cyst. Treat with the Sistrunk procedure, adding total thyroidectomy and/or radioiodine based on oncologic risk and nodal involvement. Expect a generally favorable prognosis, but maintain long-term surveillance given the (low) risk of recurrence. Guidelines regarding management of thyroglossal duct cyst cancer have recently been included within ATA 2025 thyroid cancer guidelines.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12796787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120376","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":"Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.","authors":"Leo L T Meller, Ghassan Akkad, Mary Patterson","doi":"10.1530/EDM-25-0146","DOIUrl":"10.1530/EDM-25-0146","url":null,"abstract":"<p><strong>Summary: </strong>Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is most often diagnosed in infancy or early childhood with adolescent presentation being uncommon. We present a 12-year-old female with late-onset panhypopituitarism presenting with short stature and concomitant bilateral distal arthrogryposis. Her height at presentation was 140.7 cm (6th percentile) with a growth velocity of 0.75 cm/year, Tanner stage 1, bone age consistent with chronological age, and predicted adult height of approximately 152.4 cm despite a mid-parental target near 167.6 cm. Laboratory testing supported growth hormone (GH) deficiency, central hypothyroidism, and adrenal insufficiency, with stimulation tests being subnormal. MRI showed hypoplasia of the anterior pituitary, an absent infundibulum, and an ectopic posterior pituitary, consistent with pituitary stalk interruption syndrome. Hydrocortisone (9 mg/m2/day) and levothyroxine (37.5 μg daily) were first initiated. Although GH was initially deferred due to concerns about worsening preexisting distal hand contractures, the family elected to begin weekly subcutaneous lonapegsomatropin-tcgd (Skytrofa, 7.6 mg, 0.24 mg/kg/week). At 3 months, the growth velocity increased to 8.7 cm/year with early breast development, and at 6 months, it reached 17.4 cm/year, bone age remained concordant with chronological age, and predicted adult height improved to approximately 162.6 cm. By 10 months, height percentile rose to the 12th percentile and Tanner stage 2 breast development was observed. Throughout treatment, there were no reported or observed changes in distal arthrogryposis hand contractures. This case report highlights that initiation of GH therapy may lead to a significant growth improvement without aggravating arthrogryposis-related contractures.</p><p><strong>Learning points: </strong>To report the rare co-occurrence of arthrogryposis and panhypopituitarism and discuss management. Distal arthrogryposis coexisting with GH deficiency did not worsen with GH therapy in this patient, supporting individualized risk-benefit analysis. Shared decision making is key when theoretical risks (e.g. joint symptoms) are weighed against the consequences of untreated GH deficiency.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12783500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145918821","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 rare case of apparent mineralocorticoid excess induced by chronic liquorice ingestion.","authors":"Aparajita Roy, Kieran Mullins","doi":"10.1530/EDM-25-0120","DOIUrl":"10.1530/EDM-25-0120","url":null,"abstract":"<p><strong>Summary: </strong>Apparent mineralocorticoid excess (AME) syndrome is a rare condition caused by the inhibition of the renal enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). The most common acquired cause is chronic liquorice ingestion. We report the case of a 61-year-old woman who developed profound hypokalaemia, metabolic alkalosis, and QT prolongation due to excessive liquorice tea consumption. This case underscores the importance of detailed dietary history in patients with unexplained electrolyte disturbances and demonstrates the potentially fatal cardiovascular consequences of a widely available herbal remedy.</p><p><strong>Learning points: </strong>Hypokalaemia may present subtly but can carry life-threatening risks. Apparent mineralocorticoid excess should be considered in patients with resistant hypokalaemia and unexplained hypertension. A thorough dietary and over-the-counter medication history is essential in the evaluation of electrolyte disorders. Liquorice, although natural, can exert potent physiological effects with severe clinical consequences.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12779335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906959","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":"Diffuse thyroid enlargement and its regression in methotrexate-associated lymphoproliferative disorder: an ultrasonographic observation.","authors":"Shingo Murasawa, Fumiya Isozaki, Shinobu Takayasu, Kazunori Kageyama, Yukihiro Fujita, Makoto Daimon","doi":"10.1530/EDM-25-0062","DOIUrl":"10.1530/EDM-25-0062","url":null,"abstract":"<p><strong>Summary: </strong>A 70-year-old woman with Hashimoto thyroiditis, treated with levothyroxine, was diagnosed with rheumatoid arthritis 1 year prior and subsequently began methotrexate (MTX) therapy. She presented with a 2-week history of progressive, painless anterior neck swelling. Ultrasonography (US) revealed diffuse thyroid enlargement with heterogeneously decreased echogenicity, and laboratory tests showed an elevated thyroid stimulating hormone (TSH) level of 63.6 mIU/L. A core needle biopsy confirmed the presence of mucosa-associated lymphoid tissue (MALT) lymphoma. Given her MTX therapy, MTX-associated lymphoproliferative disorder (MTX-LPD) was strongly suspected. Accordingly, MTX was discontinued, and her levothyroxine dosage was increased. Serial US examinations subsequently demonstrated a gradual reduction in thyroid size, and this progressive regression ultimately confirmed the diagnosis of MTX-LPD. Although MTX-LPD is a recognized complication of MTX therapy in rheumatoid arthritis, its primary occurrence in the thyroid is rare. In previous reports, primary thyroid lymphoma was either diagnosed in patients with a preexisting diagnosis of Hashimoto thyroiditis or concurrently with it. However, in our case, she already had Hashimoto thyroiditis, and the onset of MTX-LPD was accompanied by a worsening of hypothyroidism. Most patients with MTX-LPD achieve remission following MTX withdrawal. This rare case documents the natural improvement of diffuse ultrasonographic findings in thyroid MTX-LPD, highlighting the usefulness of serial ultrasonographic monitoring in patient follow-up.</p><p><strong>Learning points: </strong>Patients receiving MTX therapy may develop MTX-LPD involving the thyroid gland. Thyroid MTX-LPD may present with concomitant worsening of hypothyroidism. Ultrasonographic findings in thyroid MTX-LPD can occasionally include diffuse thyroid enlargement. MALT lymphoma may occur as the histological subtype in primary thyroid MTX-LPD. MTX-LPD is expected to regress following discontinuation of MTX. Serial ultrasonographic monitoring of thyroid size can serve as an effective guide for assessing MTX-LPD regression.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12742918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145821465","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 potentially dangerous case of mistaken identity: giant asymptomatic composite phaeochromocytoma.","authors":"Annabelle G Hayes, Morton G Burt","doi":"10.1530/EDM-25-0116","DOIUrl":"10.1530/EDM-25-0116","url":null,"abstract":"<p><strong>Summary: </strong>Small clinically silent phaeochromocytoma (PCC) can be identified in modern clinical practice as apparent adrenal incidentaloma or during screening of patients with familial tumour syndromes. Composite tumours comprising both PCC and a second tissue sharing embryological origin from the neural crest are rare, with fewer than 140 cases described in the literature. We report a 62-year-old woman with a 15 cm adrenal mass that was incidentally discovered on pulmonary imaging. A second 7 cm pelvic mass was also identified. The patient had no symptoms of catecholamine excess and normal blood pressure, even during a biopsy of the adrenal mass. Concordantly, urinary catecholamines were normal; however, urinary metanephrine and normetanephrine excretion were 23-fold and nine-fold the upper limit of normal, respectively. Surgical resection resulted in normalisation of metanephrines and normetanephrines. Histopathology showed a composite PCC/ganglioneuroma with discrete areas of both tumours within the same mass. Later resection of the pelvic mass revealed an unrelated ovarian teratoma. This case demonstrates a novel presentation of a composite PCC/ganglioneuroma and the presumptive role of catechol-O-methyltransferase in inactivating catecholamines within PCC, resulting in undetected growth of the tumour to a giant size. It highlights that metanephrines and normetanephrines are the preferred investigation for PCC.</p><p><strong>Learning points: </strong>Clinically silent PCC are increasingly common but are typically small, with relatively low levels of metanephrines. Upregulation of COMT causes intratumoural inactivation of catecholamines and may facilitate asymptomatic growth of PCC to a giant size. Measurement of metanephrine and normetanephrine levels in plasma or urine is the preferred biochemical investigation for PCC. Composite PCC are rare but have a similar clinical presentation and management to other PCC.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12742917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145821445","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":"Acute rectal calcinosis following parathyroidectomy in a patient with primary hyperparathyroidism and preoperative hypercalcaemic crisis.","authors":"Helēna Apele, Dace Seisuma","doi":"10.1530/EDM-25-0100","DOIUrl":"10.1530/EDM-25-0100","url":null,"abstract":"<p><strong>Summary: </strong>This case highlights a potentially underrecognised complication - acute rectal calcinosis with ulceration in the context of parathyroidectomy due to primary hyperparathyroidism (PHPT), which is a common endocrine disorder characterised by excessive secretion of parathyroid hormone (PTH), most often due to a solitary adenoma of the parathyroid gland. While severe hypercalcaemia is a known complication, its association with visceral metastatic calcifications, particularly in the rectum, is extremely rare and has not previously been reported. We describe a case of a 73-year-old female who presented with progressive symptoms of hypercalcaemia, including significant weight loss, gastrointestinal involvement, and lethargy. After repeated emergency department attendances, a hypercalcaemic crisis was confirmed. Despite initial rehydration and supportive therapy, her condition deteriorated, requiring hemofiltration. Further evaluation confirmed PHPT, revealing markedly elevated intact parathormone (iPTH) and a 5 cm parathyroid adenoma, which was removed surgically. The day following parathyroidectomy, the patient developed acute rectal bleeding with a significant haemoglobin drop. Computed tomography imaging showed rectal wall thickening and hyperdensity, while colonoscopy revealed deep rectal ulcerations with visible calcifications and inflammation. Conservative treatment, including blood component transfusions, electrolyte management, and local haemostasis, led to gradual clinical improvement.</p><p><strong>Learning points: </strong>Severe hypercalcaemia can lead to visceral calcifications, ischaemic changes, and gastrointestinal complications, even if not initially evident. In patients with primary hyperparathyroidism, acute rectal bleeding following parathyroidectomy may indicate a rare cause such as rectal calcinosis and should be considered in the differential diagnosis. Calcinosis should be particularly suspected in cases with a severe clinical picture of hyperparathyroidism-related hypercalcaemia (e.g. severe weight loss, lack of calcium correction after standard therapy). Early diagnosis and conservative management can result in favourable outcomes without the need for invasive treatment.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12700851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145716157","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}