Endocrinology, Diabetes and Metabolism Case Reports最新文献

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Segmental low-density area on contrast-enhanced CT is a possible clue to diagnosing branch artery fibromuscular dysplasia. 增强CT上的节段性低密度区是诊断支动脉纤维肌肉发育不良的可能线索。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-11-23 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0054
Yuko Kiyohara, Rei Hirose, Hiroshi Kawamata, Kazuki Nakai, Akane Hirataka, Jun Saito, Yuya Tsurutani
{"title":"Segmental low-density area on contrast-enhanced CT is a possible clue to diagnosing branch artery fibromuscular dysplasia.","authors":"Yuko Kiyohara, Rei Hirose, Hiroshi Kawamata, Kazuki Nakai, Akane Hirataka, Jun Saito, Yuya Tsurutani","doi":"10.1530/EDM-23-0054","DOIUrl":"10.1530/EDM-23-0054","url":null,"abstract":"<p><strong>Summary: </strong>Fibromuscular dysplasia can cause renovascular hypertension. Since fibromuscular dysplasia may be underdiagnosed, precise diagnosis and management are crucial, especially for young women. A 20-year-old woman with hypertension and hypokalemia was referred to our hospital for further evaluation of secondary hypertension. At the previous hospital, her blood pressure was 160/110 mmHg and the serum potassium level was 2.9 mEq/L. The equilibrium phase on contrast-enhanced computed tomography revealed a low-density area in the upper median portion of the right kidney. On admission to our hospital, her blood pressure was 141/96 mmHg under 5 mg of amlodipine. Laboratory tests revealed plasma renin activity of 11.3 ng/mL/h and plasma aldosterone concentration of 117.1 pg/mL. Renal venous sampling of active renin concentration showed a right-to-left renin ratio of 3.13, confirming a significant increase in renin secretion from the right kidney. Selective reno-angiography detected focal stenosis with adjacent aneurysmal dilation and tortuosity in the proximal branch of the right renal artery. She was diagnosed with branch artery fibromuscular dysplasia and successfully treated with percutaneous transluminal angioplasty. After the treatment, she was free from hypertension and hypokalemia without any medications. Since branch artery fibromuscular dysplasia is sometimes difficult to diagnose, contrast-enhanced computed tomography can be a promising diagnostic tool as shown in this case. Concerning treatment, our patient was treated with percutaneous transluminal angioplasty, which should be considered for women of reproductive age because recommended antihypertensive medications can be teratogenic even in the first trimester of pregnancy.</p><p><strong>Learning points: </strong>Although branch artery fibromuscular dysplasia (FMD) is sometimes difficult to diagnose, it should be considered in patients with high-renin, high-aldosterone hypertension. Branch artery FMD can present with a low-density area of the kidney on contrast-enhanced computed tomography, as shown in this case. Percutaneous transluminal angioplasty (PTA) can be an appropriate treatment for branch artery FMD, especially in young female patients. PTA may immediately improve hypertension and hypokalemia without the need for medications.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10762593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441344","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}
引用次数: 0
Insulin autoimmune syndrome: not just one but two different diseases with therapeutic implications. 胰岛素自身免疫综合征:不只是一种而是两种不同的疾病与治疗意义。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-11-17 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0032
Anne Cathrine Parelius Wammer, Ingrid Nermoen, Per Medbøe Thorsby, Nils Bolstad, Kari Lima, Hoa Tran, Ivar Følling
{"title":"Insulin autoimmune syndrome: not just one but two different diseases with therapeutic implications.","authors":"Anne Cathrine Parelius Wammer, Ingrid Nermoen, Per Medbøe Thorsby, Nils Bolstad, Kari Lima, Hoa Tran, Ivar Følling","doi":"10.1530/EDM-23-0032","DOIUrl":"10.1530/EDM-23-0032","url":null,"abstract":"<p><strong>Summary: </strong>We present a young woman with treatment resistant insulin autoimmune syndrome (IAS) with a protracted course. Her serum insulin level was 6945 pmol/l (<160), C-peptide 4042 pmol/L (<1480), anti-insulin antibodies 5305 U/mL (<0.4) were monoclonal IgG kappa. After 12 h of fasting, her blood glucose fell to 1.2 mmol/L. Post-meal blood glucose peaked at 12.2 mmol/L with reactive hypoglycaemia below 2 mmol/L. Frequent meals and continuous blood glucose monitoring were helpful, but further treatments advocated in the literature with prednisolone, rituximab, plasmapheresis, cyclophosphamide and ciclosporin were without beneficial effect. Based on this case and a review of the literature, we propose that IAS is not one but two different diseases with different therapeutic strategies. The first disease, polyclonal IAS, predominates in Asia and is characterized by polyclonal anti-insulin antibodies, association with certain HLA genotypes and other autoimmune conditions, medications and viral infections possibly triggering the disease, a possible female predominance among young patients and a tendency towards spontaneous remission. The other disease, monoclonal IAS, predominates in Caucasians. Typical features are monoclonal anti-insulin antibodies, only weak HLA association, no drug predisposition, no sex difference, rare remission and conventional therapy often being without any clinical effect. We suggest that monoclonal IAS with IgG or IgA anti-insulin antibodies should receive therapy targeting plasma cells rather than lymphocytes.</p><p><strong>Learning points: </strong>IAS may be considered as two separate diseases, polyclonal and monoclonal. The presence of either polyclonal or monoclonal antibodies should determine the choice of treatment for IAS. In polyclonal IAS, discontinuation of a triggering medication and treatment of triggering conditions should be the backbone of therapy. Monoclonal IAS should receive treatment targeting plasma cells.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291885","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}
引用次数: 0
New-onset primary adrenal insufficiency in pregnancy associated with a unilateral adrenal infarction: a case report. 妊娠期新发原发性肾上腺功能不全伴单侧肾上腺梗死1例报告。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-11-17 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0093
Lakshmi Menon, Dinesh Edem, Jhansi Maradana, Pranjali Sharma, Shrikant Tamhane
{"title":"New-onset primary adrenal insufficiency in pregnancy associated with a unilateral adrenal infarction: a case report.","authors":"Lakshmi Menon, Dinesh Edem, Jhansi Maradana, Pranjali Sharma, Shrikant Tamhane","doi":"10.1530/EDM-23-0093","DOIUrl":"10.1530/EDM-23-0093","url":null,"abstract":"Summary New-onset primary adrenal insufficiency is rare in pregnancy. The symptoms of adrenal insufficiency such as nausea, vomiting and dizziness may be attributed to the pregnancy itself, which can lead to a delay in the diagnosis. The presence of hypotension, hypoglycemia or hyperkalemia should raise the suspicion for adrenal insufficiency. We report the case of a 25-year-old woman who presented with tachycardia, left flank pain and vomiting at 36 weeks’ gestation. She was found to have primary adrenal insufficiency and started on hydrocortisone and fludrocortisone with resolution of the vomiting and tachycardia. MRI of the abdomen revealed an acute nonhemorrhagic infarct of the left adrenal gland. The contralateral adrenal gland was normal. Autoimmune and infectious etiologies of primary adrenal insufficiency were ruled out and the adrenal insufficiency was attributed to the unilateral adrenal infarction. Adrenal insufficiency persisted after delivery and then resolved at approximately 16 months post partum. This case highlights the need to test women with unilateral adrenal infarction in pregnancy for the presence of primary adrenal insufficiency. Learning points Adrenal insufficiency should be considered when a pregnant woman develops nausea, vomiting and dizziness in association with hypotension or hypoglycemia. Hypovolemic hyponatremia related to vomiting can occur in pregnancy, but the failure to correct hyponatremia despite adequate IV hydration should raise the suspicion for adrenal insufficiency. Adrenal infarction should be in the differential diagnosis for unilateral flank pain in pregnancy. Other common etiologies for flank pain in pregnancy include nephrolithiasis, pyelonephritis and acute cholecystitis. Unilateral adrenal infarction in pregnancy can lead to the development of primary adrenal insufficiency. Following delivery, these patients need to be monitored for the resolution of the adrenal insufficiency.","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138048108","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}
引用次数: 0
Induction of lactation in a patient with complete androgen insensitivity syndrome. 完全雄激素不敏感综合征患者的诱导泌乳。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-11-15 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0063
Kimberly Voon, Bronwyn G A Stuckey
{"title":"Induction of lactation in a patient with complete androgen insensitivity syndrome.","authors":"Kimberly Voon, Bronwyn G A Stuckey","doi":"10.1530/EDM-23-0063","DOIUrl":"10.1530/EDM-23-0063","url":null,"abstract":"<p><strong>Summary: </strong>With rising rates of adoption and surrogacy, induced lactation is likely to become increasingly relevant, allowing women who did not undergo pregnancy to breastfeed. We describe the case of a woman with complete androgen insensitivity syndrome (CAIS) on conventional oestrogen therapy who was expecting a child via surrogacy and who wished to breastfeed. The woman was commenced on supplementary oestrogen therapy, domperidone and breast stimulation by mechanical breast pump 8 weeks prior to the delivery of her child. Following delivery, the patient produced a small, unquantified amount of milk, allowing her to suckle the infant for a short period of time. Induced lactation is possible in chromosomally XY individuals. It has been most successful in cis-women and transwomen, both of whom have had progesterone/progestogen exposure to the breast. We suggest that the addition of a progestogen to our patient's treatment regimen, either as part of her original hormone therapy or part of the lactation induction program, would have improved her changes of establishing successful lactation.</p><p><strong>Learning points: </strong>Induced lactation is possible in chromosomally XY individuals with the use of pharmacological and non-pharmacological therapies. There are no standardised guidelines regarding the optimal regimen for induced lactation. Progesterone exposure to the breast is essential for ductal branching and alveolar maturation. In the published literature, induced lactation is more successful in transwomen and other XY individuals who have had prior progesterone exposure. The addition of progestogen to our patient's treatment regimen would have improved her chances of establishing successful lactation.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107592425","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}
引用次数: 0
Acute heart failure with incidentally found cystic adrenal mass. 急性心力衰竭,偶然发现肾上腺囊性肿块。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-10-24 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0051
Salman Zahoor Bhat, Amir H Hamrahian, Yubo Wu, Misop Han, Roberto Salvatori
{"title":"Acute heart failure with incidentally found cystic adrenal mass.","authors":"Salman Zahoor Bhat,&nbsp;Amir H Hamrahian,&nbsp;Yubo Wu,&nbsp;Misop Han,&nbsp;Roberto Salvatori","doi":"10.1530/EDM-23-0051","DOIUrl":"10.1530/EDM-23-0051","url":null,"abstract":"<p><strong>Summary: </strong>Pheochromocytomas are rare adrenal tumors characterized by excessive catecholamine secretion. Symptoms and signs associated with pheochromocytomas are usually intermittent and chronic but can rarely develop into life-threatening crises. We describe a case of acute severe congestive heart failure in a previously healthy female, who recovered rapidly (4 days after admission) with acute medical therapy. The etiology on evaluation was a spontaneous bleed in a previously undiagnosed pheochromocytoma, resulting in a pheochromocytoma crisis and transient stress cardiomyopathy, followed by quick recovery of cardiac function. Our aim is to describe pheochromocytoma as a rare cause of stress cardiomyopathy. We discuss the evaluation of pheochromocytoma during critical illness and triggers/treatment strategies for pheochromocytoma crises.</p><p><strong>Learning points: </strong>Hemorrhage in a pheochromocytoma can result in a pheochromocytoma crisis, with sudden release of excess catecholamines resulting in multisystem organ dysfunction and high mortality. Acute decompensated heart failure can be a rare presentation of pheochromocytoma, in a patient with no cardiac risk factors. Measurement of metanephrines in acutely stressful clinical situations can have considerable overlap with the biochemical picture of pheochromocytoma. Early imaging studies may help with the differential diagnosis. Pheochromocytoma should be ruled out before performing an adrenal biopsy. Emergent adrenalectomy in pheochromocytoma crisis results in high mortality. Medical management of the acute crisis followed by elective adrenalectomy after alpha-blockade results in better outcomes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49692833","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}
引用次数: 0
Diagnostic pitfalls in a young adult with new diabetes. 一名患有新发糖尿病的年轻人的诊断陷阱。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-10-12 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0024
Natalie Below, Deborah Morrison, Ruth McGowan, Gregory C Jones
{"title":"Diagnostic pitfalls in a young adult with new diabetes.","authors":"Natalie Below,&nbsp;Deborah Morrison,&nbsp;Ruth McGowan,&nbsp;Gregory C Jones","doi":"10.1530/EDM-23-0024","DOIUrl":"10.1530/EDM-23-0024","url":null,"abstract":"<p><strong>Summary: </strong>A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing was negative and c-peptide level demonstrated significant endogenous insulin secretion, type 1 diabetes was excluded. Given his age and family history, the differential diagnosis included maturity-onset diabetes of the young (MODY), a rare form of diabetes caused by a single-gene variant. A high probability of MODY was calculated and he was subsequently referred for genetic testing. Although a useful tool, the pre-test probability calculator for MODY is only validated in White Europeans. A heterogenous variant of unknown clinical significance of the NEUROD1 gene was detected, leading to gliclazide use with poor response. The patient responded well to metformin. Type 2 diabetes was considered the most likely diagnosis. This case highlights the diagnostic challenges in young patients of Asian ethnicity and the importance of interpreting genetic results of unknown significance within the clinical context. Ethnicity-specific BMI thresholds should be used when classifying patients as overweight or obese.</p><p><strong>Learning points: </strong>Variants of unknown significance detected by genetic sequencing should be interpreted within the context of the patient's other clinical parameters. It is important to use ethnicity-specific BMI thresholds for obesity. Diagnosis of type 2 diabetes mellitus at younger ages is becoming increasingly common. The pre-test probability calculator for MODY is only validated in White Europeans; although a useful guide, results should be interpreted with caution in patients of other ethnicities.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49683183","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}
引用次数: 0
Severe Cushing's syndrome from an ectopic adrenocorticotropic hormone-secreting neuroendocrine tumour treated by osilodrostat. 奥西洛司他治疗异位分泌促肾上腺皮质激素的神经内分泌肿瘤引起的严重库欣综合征。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-10-11 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0076
Václav Hána, Tomáš Brutvan, Adéla Krausová, Michal Kršek, Václav Hána
{"title":"Severe Cushing's syndrome from an ectopic adrenocorticotropic hormone-secreting neuroendocrine tumour treated by osilodrostat.","authors":"Václav Hána,&nbsp;Tomáš Brutvan,&nbsp;Adéla Krausová,&nbsp;Michal Kršek,&nbsp;Václav Hána","doi":"10.1530/EDM-23-0076","DOIUrl":"10.1530/EDM-23-0076","url":null,"abstract":"<p><strong>Summary: </strong>Severe Cushing's syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare but often demands rapid diagnostics and treatment of hypercortisolism with its comorbidities. Pharmacotherapy of hypercortisolism by ketoconazole, metyrapone and osilodrostat is currently available. If unsuccessful or insufficient a bilateral adrenalectomy is an option. We present a 28-year-old female with severe Cushing's syndrome caused by a bronchial metastatic neuroendocrine tumour (NET). Hypercortisolism was efficiently treated by osilodrostat with block-replace and then titration regimen. A once-daily dose was finally used with normalised cortisol levels. Androgen levels measured by liquid chromatography-mass spectrometry were slightly elevated during the treatment but without any symptoms. A simple once-daily use of osilodrostat with titration regimen led to normalised cortisol levels in a severe Cushing's syndrome patient with an uncurable bronchial NET. Transient hypocortisolism during treatment appeared but was easily treated by hydrocortisone.</p><p><strong>Learning points: </strong>Cushing's syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare. Cortisol upregulation is often severe and rapid, though clinical signs are not always fully pronounced. Rapid treatment is a key for preventing and reducing complications such as fractures, thromboembolism, bleeding, hyperglycaemia, and arterial hypertension. The novel potent steroidogenesis inhibitor osilodrostat can be used as first-line treatment for reducing hypercortisolism.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49683184","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}
引用次数: 0
Elderly-onset calcinosis of hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome: the role of comorbid scleroderma. 高磷血症家族性肿瘤的老年性钙沉着症高磷血症综合征:硬皮病合并症的作用。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-10-03 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0071
Hiroaki Iwasaki
{"title":"Elderly-onset calcinosis of hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome: the role of comorbid scleroderma.","authors":"Hiroaki Iwasaki","doi":"10.1530/EDM-23-0071","DOIUrl":"10.1530/EDM-23-0071","url":null,"abstract":"<p><strong>Summary: </strong>A 73-year-old woman with type 2 diabetes mellitus was referred to our department for glycaemic control. Physical examination revealed two subcutaneous hard masses around the left shoulder and the right hip joint. The patient could not fully extend her fingers because of skin sclerosis in both hands. Laboratory studies showed hyperphosphataemia and a high ratio of renal tubular maximum reabsorption of phosphate to glomerular filtration rate. There were no abnormalities in serum calcium, creatinine, alkaline phosphatase, and intact parathyroid hormone levels, whereas serum fibroblast growth factor 23 was low. Hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome (HFTC/HHS) was diagnosed using whole genome sequencing that revealed a novel frameshift beyond the 584th threonine located in the lectin domain of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 associated with a duplication of the 1748th thymine in the coding region of the corresponding gene. Furthermore, anti-nuclear, anti-centromere, and anti-cardiolipin antibodies were positive, implying that comorbid limited type scleroderma might play a role in tumoural calcinosis (TC) development. A low phosphate diet was prescribed with phosphate-lowering medications, including aluminium hydroxide, acetazolamide, and sevelamer hydrochloride. The patient displayed a decrease in serum phosphate levels from 6.5 to 5.5 mg/dL 10 months after the initiation of treatment, but her TC had not improved during treatment for more than 1 year. This case was interesting because the patient with HFTC/HHS exhibited TC despite being over her 60s, and subsequent scleroderma might contribute to the specific clinical course. When HFTC/HHS presents with elderly-onset TC, the involvement of comorbidities in exacerbating TC should be considered.</p><p><strong>Learning points: </strong>HFTC/HHS occurs on an autosomal recessive basis, but its clinical course and manifestations differ significantly throughout the cases. HFTC/HHS may be undiagnosed until later in life because of its rarity, unfamiliarity, and phenotype diversity; therefore, HFTC/HHS should be included in the differential diagnosis of elderly patients with unexplained hyperphosphataemia or ectopic calcinosis. Comorbidities, including rheumatologic disorders, may contribute to developing HFTC/HHS-associated calcinosis.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/aa/d0/EDM23-0071.PMC10563600.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41152691","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}
引用次数: 0
Post-bariatric hypoglycaemia diagnosed during pregnancy. 妊娠期间诊断为减肥后低血糖症。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-10-03 Print Date: 2023-10-01 DOI: 10.1530/EDM-23-0010
Dave Duggan, Cinthia Minatel Riguetto
{"title":"Post-bariatric hypoglycaemia diagnosed during pregnancy.","authors":"Dave Duggan,&nbsp;Cinthia Minatel Riguetto","doi":"10.1530/EDM-23-0010","DOIUrl":"10.1530/EDM-23-0010","url":null,"abstract":"<p><strong>Summary: </strong>There is a scarcity of literature relating to post-bariatric hypoglycaemia (PBH) in pregnancy. Recurrent hyperglycaemia and hypoglycaemia can have significant consequences for both the mother and the developing fetus. We describe a case of a young pregnant woman who was diagnosed with symptomatic PBH in the second trimester of pregnancy using continuous glucose monitoring (CGM) 3 years after Roux-en-Y gastric bypass (RYGB) surgery. Instigating a low glycaemic index and complex carbohydrate diet significantly improved the patient's glycaemic excursions. Given that this condition is likely underdiagnosed as a complication of RYGB surgery, a greater awareness of this complication is needed. Patients should be adequately consented pre-operatively for this relatively frequent late surgical complication to enable patients to identify symptoms of this condition at an early stage and seek medical treatment.</p><p><strong>Learning points: </strong>PBH is an important diagnosis in patients post-RYGB surgery, particularly in women of childbearing age when consequences of both hyperglycaemia and hypoglycaemia during pregnancy can adversely affect both mother and the fetus. Adverse outcomes of recurrent hypoglycaemia to the fetus can include small for gestational age, intrauterine growth restriction and possible impairment of beta cell function. Providing adequate carbohydrate intake to allow growth of the fetus during pregnancy while also attempting to resolve both hyperglycaemia and hypoglycaemia associated with PBH by reducing the intake of simple carbohydrates and high glycaemic index foods can prove challenging. Patients should be adequately consented for late complications of RYGB surgery such as PBH in order to allow early recognition of symptoms and enable prompt treatment.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166303","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}
引用次数: 0
Sertoliform endometrioid carcinoma of the right ovary. 右侧卵巢的支持型子宫内膜样癌。
IF 0.9
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-09-28 Print Date: 2023-07-01 DOI: 10.1530/EDM-23-0046
Mohammad Alali, Sulaiman Hajji, Khalid Aljenaee
{"title":"Sertoliform endometrioid carcinoma of the right ovary.","authors":"Mohammad Alali,&nbsp;Sulaiman Hajji,&nbsp;Khalid Aljenaee","doi":"10.1530/EDM-23-0046","DOIUrl":"10.1530/EDM-23-0046","url":null,"abstract":"<p><strong>Summary: </strong>Endometrioid carcinomas of the ovary are a subtype of epithelial ovarian tumors, with sertoliform endometrioid carcinomas being a rare variant. We report a case of a previously healthy premenopausal woman presenting with androgenic symptoms in the form of hirsutism and male pattern alopecia. On further testing, she was found to have high levels of luteinizing hormone and total testosterone levels, and imaging revealed a large pelvic abdominal mass in the right ovary. She underwent total hysterectomy with bilateral salpingo-oophorectomy. Microscopy and histopathology confirmed the diagnosis of sertoliform endometrioid carcinoma. Her symptoms improved significantly on follow-up. Androgenic tumors might not be common in premenopausal women; however, it is important to maintain a high level of suspicion in patients presenting with virilizing symptoms especially of rapid progression.</p><p><strong>Learning points: </strong>Our 47-year-old patient presented with virilizing symptoms that were rapidly progressing, which raises the suspicion of an underlying androgen secreting neoplasm. Sertoliform endometrioid carcinoma (SEC) is an extremely rare variant of endometrioid carcinomas and tend to present at an earlier stage as compared to most endometrioid carcinomas of the ovary. Recognition of SEC in virilizing patients is important as it is a well-differentiated, low-grade malignancy with a good prognosis when confined to the ovary.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41172725","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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