Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"Primary hyperaldosteronism in patient with Bardet-Biedl syndrome: unmasking secondary hypertension.","authors":"E Marinova, L Stoyanova, Tsv Todorova, M Dimova","doi":"10.1530/EDM-25-0193","DOIUrl":"10.1530/EDM-25-0193","url":null,"abstract":"<p><strong>Summary: </strong>Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by marked clinical and genetic heterogeneity, classically presenting with retinal dystrophy, obesity, polydactyly, renal dysfunction, and hypogonadism. Although arterial hypertension is frequently observed in affected individuals, it is not currently included in diagnostic criteria and remains insufficiently studied. We report the case of a 35-year-old man with clinically diagnosed BBS who developed severe, treatment-resistant hypertension and hypokalaemia. A comprehensive endocrine evaluation revealed primary hyperaldosteronism, confirmed by an elevated aldosterone-to-renin ratio, saline suppression testing, and imaging evidence of a unilateral adrenal adenoma. Laparoscopic adrenalectomy resulted in normalization of potassium levels and a significant improvement in blood pressure control. This case illustrates the complex interplay between BBS-related renal, metabolic, and neuroendocrine dysfunction and secondary endocrine causes of hypertension. Existing evidence suggests that BBSome dysfunction may be associated with alterations in metabolic and cardiovascular regulation; however, its relationship with aldosterone-producing adenomas remains uncertain. The coexistence of BBS and primary aldosteronism may be coincidental; however, shared molecular pathways cannot be excluded. To the best of our knowledge, this is the first reported case of primary aldosteronism caused by an aldosterone-producing adrenal adenoma in a patient with BBS. This report highlights the importance of a thorough evaluation for secondary hypertension in BBS patients and underscores the need for further research into the pathophysiological links between ciliopathies and endocrine hypertension.</p><p><strong>Learning points: </strong></p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 3","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149031612","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 case report of insulin edema associated with insulin icodec.","authors":"Akihiro Narita, Takaaki Murakami, Yohei Ueda, Daisuke Yabe","doi":"10.1530/EDM-26-0007","DOIUrl":"10.1530/EDM-26-0007","url":null,"abstract":"<p><strong>Summary: </strong>Insulin edema is a rare complication that may occur after the initiation of insulin therapy. Although it usually resolves promptly after discontinuation of insulin, severe cases can lead to pulmonary edema, congestive heart failure, and acute renal failure. Insulin icodec is a recently marketed once-weekly, long-acting basal insulin, and its clinical use is increasing in Japan because it offers the convenience of once-weekly administration with an acceptable safety profile. In this report, we describe what is, to our knowledge, the first case of edema associated with insulin icodec. An 82-year-old man with glucocorticoid-induced diabetes mellitus in the setting of pre-existing impaired glucose metabolism was started on insulin icodec because of worsening glycemic control and developed bilateral leg edema a few days after the first injection. As he had no signs of heart failure, liver disease, or renal impairment, insulin icodec-induced edema was suspected, and insulin icodec was discontinued. Notably, it took more than one month after discontinuation of insulin icodec for the edema to improve. This case suggests that, compared with edema caused by conventional insulin preparations, insulin icodec-associated edema may show a delayed course of resolution. A closer and longer observation should be considered when initiating insulin icodec, particularly in insulin-naive people or in those with suboptimal glycemic management.</p><p><strong>Learning points: </strong></p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 3","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13617636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018203","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":"Multivessel spontaneous coronary artery dissection in a young woman using cabergoline.","authors":"Rachel Byrne, Paul Shiels, Rajesh Kumar","doi":"10.1530/EDM-24-0129","DOIUrl":"10.1530/EDM-24-0129","url":null,"abstract":"<p><strong>Summary: </strong>We present a unique case of multivessel spontaneous coronary artery dissection (SCAD) in a young woman using cabergoline. This woman presented with an acute coronary syndrome (ACS) on a background of cabergoline use for a prolactinoma diagnosed over 20 years ago. Coronary angiogram revealed multivessel coronary artery dissection in the absence of occlusive disease. SCAD is an increasingly recognised cause of acute ACS; however, cabergoline-induced SCAD is exceedingly rare with limited literature to date. We highlight this important clinical entity to physicians, who must have a high index of clinical suspicion of this diagnosis in ACS presentations on a background of cabergoline use.</p><p><strong>Learning points: </strong>We need a high index of clinical suspicion of SCAD in young women with ACS presentations. Cabergoline therapy may be an important risk factor for consideration in those presenting with a possible SCAD.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279072","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":"Combination therapy of pasireotide and pegvisomant for aggressive acromegaly with an immature PIT1-lineage PitNET.","authors":"Keiko Tomiyama, Izumi Fukuda, Shigeyuki Tahara, Chie Inomoto, Robert Yoshiyuki Osamura, Masato Iwabu","doi":"10.1530/EDM-25-0171","DOIUrl":"10.1530/EDM-25-0171","url":null,"abstract":"<p><strong>Summary: </strong>A 29-year-old male presented with central scotoma and was suspected of having acromegaly based on enlargement of facial features and extremities. Serum growth hormone (GH) and insulin-like growth factor 1 (IGF-1) levels were elevated to 10.14 ng/mL and 571 ng/mL (74.8 nmol/L, +5.73 SDS), respectively. Magnetic resonance imaging revealed a giant pituitary neuroendocrine tumor (PitNET) measuring 48 × 48 × 58 mm with bilateral cavernous sinus invasion and high T2-weighted signal intensity. Because of poor GH suppression during an acute octreotide test (100 μg subcutaneously; nadir GH 6.25 ng/mL, 19% reduction from baseline) and the invasive tumor phenotype, preoperative pasireotide (PAS) 40 mg every 4 weeks was initiated. After 2 months, partial tumor removal was performed via transsphenoidal surgery. Histological analysis revealed an immature PIT1-lineage PitNET with strong membranous expression of somatostatin receptor subtypes 2 and 5. Persistently elevated IGF-1 after surgery led to re-initiation of PAS (40 mg every 4 weeks, escalated to 60 mg), followed by the addition of pegvisomant (PEG) 10 mg/day because biochemical control could not be achieved. Combination therapy with PAS and PEG normalized IGF-1 and maintained radiological tumor stability during long-term follow-up. This case highlights that biochemical response to somatostatin receptor ligands does not necessarily correlate with receptor expression in invasive PitNETs. Pathological classification using transcription factors may help guide individualized treatment strategies. Combination therapy with PAS and PEG may represent an effective option for aggressive acromegaly caused by immature PIT1-lineage PitNETs.</p><p><strong>Learning points: </strong>Immature PIT1-lineage PitNETs may demonstrate discordance between somatostatin receptor expression and clinical responsiveness to somatostatin receptor ligands. In patients with predictors of poor response to first-generation somatostatin analogs, such as T2-weighted MRI hyperintensity and poor GH suppression during acute octreotide testing, early consideration of pasireotide (PAS) or combination therapy with PAS and pegvisomant (PEG) may be appropriate. In this case, PAS up to 60 mg every 4 weeks failed to adequately control IGF-1 levels, whereas subsequent combination therapy with PAS and PEG achieved biochemical remission and tumor stabilization, highlighting the potential role of combination strategies in aggressive acromegaly.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279036","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":"Differential reversibility of anterior and posterior pituitary dysfunction in delayed recurrent pediatric Rathke's cleft cyst.","authors":"Atsuko Ogasawara, Shozo Yamada, Go Matsuoka","doi":"10.1530/EDM-26-0036","DOIUrl":"10.1530/EDM-26-0036","url":null,"abstract":"<p><strong>Summary: </strong>Rathke's cleft cyst (RCC) is a benign sellar or suprasellar lesion increasingly detected by magnetic resonance imaging (MRI). Although surgery is indicated for symptomatic or enlarging RCCs, recurrence may occur and reoperation may be required, particularly in pediatric patients, for whom long-term postoperative data remain limited. We report a pediatric case with RCC associated with growth hormone (GH) deficiency. GH replacement therapy was started at 5 years of age. At 8 years of age, MRI revealed a sellar and suprasellar cystic lesion diagnosed as RCC, and endoscopic transsphenoidal surgery was performed. Following the initial surgery, GH secretion showed no improvement, and desmopressin therapy was initiated due to postoperative arginine vasopressin (AVP) deficiency. Gradual cyst recurrence became evident, necessitating reoperation seven years after the initial surgery. After the second surgery, GH secretion improved, whereas postoperative AVP deficiency persisted. This case demonstrates delayed recurrence of pediatric RCC and dynamic changes in anterior and posterior pituitary function, highlighting axis-specific reversibility of pituitary dysfunction and the need for long-term follow-up.</p><p><strong>Learning points: </strong>Pediatric RCC may demonstrate delayed recurrence many years after initial surgery, requiring long-term endocrine follow-up. Anterior pituitary dysfunction, including GH deficiency, may be reversible following adequate decompression. Persistent postoperative arginine vasopressin deficiency may reflect irreversible posterior pituitary or stalk injury and may not recover after reoperation. Pituitary function in RCC can evolve over time and should be reassessed even after apparent surgical success.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148266263","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":"Experiences with the use of asfotase alfa in three patients with childhood-onset hypophosphatasia.","authors":"Francesca Pigliaru, Davide Noto, Maria Luisa Brandi","doi":"10.1530/EDM-25-0050","DOIUrl":"10.1530/EDM-25-0050","url":null,"abstract":"<p><strong>Summary: </strong>Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of serum alkaline phosphatase due to loss-of-function mutations in the ALPL gene. Diagnosis confirmation, management, and follow-up of HPP are challenging, and clinical guidance is scant due to the difficulty in gathering high-level evidence. Asfotase alfa is the first long-term enzyme replacement therapy indicated in patients with pediatric-onset HPP to treat the bone manifestations of the disease. In the absence of large clinical studies, sharing clinical observations is an important source of information and support for clinicians. This article presents three case studies. A woman affected by HPP with manifestations of the disease at pediatric age began asfotase alfa therapy at the age of 43 years, resulting in improvements in bone density and epilepsy management. A man diagnosed with HPP in childhood had a severely compromised quality of life. He experienced improvements in bone fragility, respiratory function, sleep quality, and physical function with asfotase alfa therapy. Finally, a woman with infantile-onset HPP, presenting with severe bone deformity, musculoskeletal pain, pseudofractures, and cardiovascular and neurological involvement, showed radiological and clinical improvements in bone health, reduced pain, and increased walking autonomy during asfotase alfa treatment.</p><p><strong>Learning points: </strong>Delayed diagnosis of HPP is common and can cause morbidity. Asfotase alfa significantly improves clinical outcomes in childhood-onset HPP, even when initiated in adulthood. Asfotase alfa therapy provides benefits beyond bone health. Monitoring treatment response requires a comprehensive clinical evaluation beyond DXA measurements. Real-world clinical experience is crucial for optimizing treatment strategies for HPP.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13267090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148260020","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":"Longitudinal evaluation of recurrent thyrotoxicosis in a single patient across four pregnancies: a case report and literature review.","authors":"Yosuke Kaido, Hiroto Minamino, Hidefumi Inaba, Daisuke Kosugi, Gen Inoue, Daisuke Yabe","doi":"10.1530/EDM-25-0175","DOIUrl":"10.1530/EDM-25-0175","url":null,"abstract":"<p><strong>Summary: </strong>We report the case of a 37-year-old woman who presented with hyperemesis gravidarum at 11 weeks of gestation. Laboratory examination revealed severe thyrotoxicosis (TSH: <0.005 μIU/mL, FT3: 12.95 pg/mL, FT4: 3.93 ng/dL) with negative anti-TSH receptor antibody, while serum human chorionic gonadotropin (hCG) was markedly elevated at 198,983 mIU/mL. She was diagnosed with gestational transient thyrotoxicosis (GTT), although the presence of thyroid-stimulating antibody raised suspicion for concomitant Graves' disease (GD). Because of severe and clinically burdensome thyrotoxic symptoms, including excessive sweating and weight loss, propylthiouracil therapy was initiated, but thyrotoxicosis recurred after 20 weeks of gestation alongside elevated serum hCG levels, prompting a switch to thiamazole. Genetic testing revealed no TSHR mutations. Postpartum, both hCG and thyroid hormone levels normalized without treatment. During the second pregnancy, she experienced a miscarriage at nine weeks. During the third pregnancy, an elective abortion was performed due to a fetal genetic disorder. Both pregnancies were marked by severe thyrotoxicosis, consistent with GTT. During the fourth pregnancy, at 11 weeks, she developed hyperemesis gravidarum and was diagnosed with GTT. The persistently elevated thyroglobulin levels (>200 ng/mL; reference range:, <33.7 ng/mL) were also compatible with a possible contribution from painless thyroiditis (PT). Serum hCG levels normalized after the second trimester. Recurrent and sustained thyrotoxicosis during pregnancy across multiple pregnancies in the same patient is rare and requires careful differentiation among possible etiologies, including GTT, GD, and PT. This case underscores the importance of comprehensive monitoring of placental function, thyroid autoimmunity, and thyroiditis throughout pregnancy to ensure accurate diagnosis and tailored management for both mother and fetus.</p><p><strong>Learning points: </strong>The diagnosis of recurrent thyrotoxicosis in pregnancy is complex, as distinct entities can overlap clinically. Comprehensive phenotyping - incorporating thyroid autoantibodies, serum hCG, Tg, and ultrasound - guides diagnosis; reserve TSHR testing for atypical or persistent cases. Careful longitudinal monitoring across pregnancies enables optimized maternal-fetal outcomes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13267091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148260048","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":"Reactivation after total thyroidectomy? A thyroid eye disease case that challenges established clinical paradigms.","authors":"Alejandra Niño Alarcón, Diana Cristina Henao, Leonardo Rojas, Ana María Gomez, Yeimer Ortiz Martínez","doi":"10.1530/EDM-25-0173","DOIUrl":"10.1530/EDM-25-0173","url":null,"abstract":"<p><strong>Summary: </strong>Thyroid eye disease (TED) is the most common extrathyroidal manifestation of Graves' disease, with an incidence of approximately 1.9 cases per 10,000 inhabitants per year. Its pathophysiology involves an autoimmune response mediated by TSH receptor antibodies (TRAbs), leading to inflammation, fibroblast activation, and orbital tissue remodeling. Although TED typically becomes inactive within 1-3 years, 5-10% of patients experience recurrences. Persistence or reactivation after total thyroidectomy is uncommon, and published reports remain limited. We report a 56-year-old man with Graves' disease diagnosed in 2020 and multiple TED reactivations treated with intravenous methylprednisolone. In 2022, he was diagnosed with low-risk papillary thyroid carcinoma (T1a N0 M0) and underwent total thyroidectomy; radioiodine therapy was withheld due to orbitopathy. Despite complete surgery, he developed a new reactivation in November 2023. In March 2025, he presented with ocular pain; active TED was confirmed with a CAS of 6/7 and moderate-to-severe EUGOGO classification. Laboratory tests revealed positive TRAbs and suppressed TSH. A multidisciplinary team recommended another steroid course followed by tocilizumab. TED reactivation after thyroidectomy is rare and challenges the rationale of antigen removal. Possible mechanisms include microscopic residual thyroid tissue or persistent TRAb activity. Similar reports are limited, and this appears to be the first case described in Colombia. This case highlights the need for multidisciplinary management and the potential role of immunomodulators such as tocilizumab in refractory post-thyroidectomy TED. Further research is needed to clarify factors contributing to disease persistence.</p><p><strong>Learning points: </strong>TED reactivation can occur even after total thyroidectomy, challenging the traditional belief that removing the thyroid eliminates antigenic stimuli. Persistently elevated TRAb levels or microscopic residual thyroid tissue may contribute to post-surgical disease activity. Early thyroidectomy does not guarantee sustained TED remission, especially in cases with severe or recurrent activity. Multidisciplinary involvement is essential, particularly in complex cases involving both autoimmune disease and thyroid carcinoma. Tocilizumab represents a valuable second-line option for TED refractory to glucocorticoids, aligning with emerging evidence for immunomodulatory therapies. This is the first case reported in Colombia with these clinical characteristics, highlighting the rarity and importance of awareness.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13470632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148212711","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":"Recognising pituitary and thyroid dysfunction after craniospinal radiotherapy: an underrecognised mixed endocrine toxicity.","authors":"Katrien Slabbynck, Stijn Roels, Katrien Erven, Els Everaert, Peter Coremans","doi":"10.1530/EDM-25-0143","DOIUrl":"10.1530/EDM-25-0143","url":null,"abstract":"<p><strong>Summary: </strong>Adult medulloblastoma is a rare cerebellar tumour with an incidence of 0.6-1 per million per year in post-pubertal patients. Craniospinal radiotherapy is a key component of treatment. Endocrine organs commonly involved in the radiation field - such as the hypothalamus, pituitary and thyroid gland - are particularly sensitive to radiation-induced damage, often resulting in hormonal deficiencies in a dose-dependent manner. We report the case of a 43-year-old woman who developed both hypopituitarism and primary hypothyroidism following craniospinal radiotherapy for medulloblastoma at the age of 34. She was diagnosed with primary hypothyroidism two years later. Seven years later, hormonal substitution therapy was started for menopausal symptoms, and nine years later, she presented with persisting long-standing fatigue, amenorrhoea, nausea upon waking, vomiting and anorexia. Laboratory testing was suggestive of hypopituitarism. Dynamic testing confirmed severe growth hormone deficiency but a normal cortisol response. Thyroid-releasing hormone stimulation test revealed a blunted and delayed response. Magnetic resonance imaging revealed significantly reduced pituitary height over time. Although radiation-induced endocrine dysfunction is well documented in children, its prevalence in adult populations also reaches 50%, and its clinical significance is increasingly recognised. Despite the common occurrence of hypothalamic-pituitary axis dysfunction and primary hypothyroidism following craniospinal irradiation, their simultaneous presentation provides an important educational example of the complex and multifaceted endocrine effects of radiation exposure. This paper highlights the importance of minimising radiation dose on these endocrine glands, as well as long-term multidisciplinary follow-up and screening after craniospinal radiotherapy. It also raises the question whether pituitary evaluation on surveillance imaging could help predict pituitary dysfunction, a possibility that warrants further exploration.</p><p><strong>Learning points: </strong>Hypopituitarism and primary hypothyroidism are common complications following craniospinal irradiation, but symptoms are often insidious and progressive. Pituitary and thyroid dysfunction post-craniospinal radiotherapy is dose-dependent, underscoring the importance of minimising radiation dose to these endocrine organs. Structured endocrine screening and lifelong multidisciplinary follow-up are valuable for early detection and treatment. Routine brain surveillance imaging with pituitary gland assessment might aid in predicting pituitary dysfunction, but its exact role and correlation need to be elucidated.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13250807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148164578","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":"IGF-2-mediated hypoglycemia in a patient with a phyllodes tumor of the breast: a rare presentation of non-islet cell tumor hypoglycemia.","authors":"Dhana Jaafar, Mohammad Bakhutma, Laurel Walfish, Jill Pancer, Vincent Larouche, Anca Florea","doi":"10.1530/EDM-25-0157","DOIUrl":"10.1530/EDM-25-0157","url":null,"abstract":"<p><strong>Summary: </strong>Non-islet cell tumor hypoglycemia (NICTH) is a rare paraneoplastic syndrome typically associated with mesenchymal or epithelial tumors that secrete insulin-like growth factor 2 (IGF-2). Breast tumors are an unusual cause of IGF-2-mediated hypoglycemia. We report the case of a 55-year-old woman with a large, fungating phyllodes tumor of the right breast who experienced recurrent fasting hypoglycemia. Biochemical evaluation during hypoglycemic episodes revealed suppressed insulin, C-peptide, β-hydroxybutyrate, and IGF-1, with normal IGF-2 levels but an elevated IGF-2:IGF-1 ratio. Imaging demonstrated a large necrotic breast mass, and subsequent histopathology confirmed a borderline phyllodes tumor with positive IGF-2 immunostaining. Following surgical resection, the patient's hypoglycemia resolved completely. This case highlights the importance of considering NICTH in patients with unexplained hypoglycemia and large tumors, even when IGF-2 levels are not elevated. Diagnosis may require immunohistochemistry or evaluation of the IGF-2:IGF-1 ratio. Surgical excision remains the definitive treatment.</p><p><strong>Learning points: </strong>Non-islet cell tumor hypoglycemia (NICTH) should be considered in patients with recurrent fasting hypoglycemia and a large tumor, even when IGF-2 levels are within the normal range. An elevated IGF-2:IGF-1 ratio can be a key diagnostic clue for IGF-2-mediated hypoglycemia and may be more reliable than absolute IGF-2 levels. Surgical resection of the tumor is typically curative in NICTH and should be prioritized when feasible, with resolution of hypoglycemia serving as both a diagnostic and a therapeutic confirmation.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148057395","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}