Endocrinology, diabetes & metabolism case reports最新文献

{"title":"First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene.","authors":"R Casey,&nbsp;S Prendeville,&nbsp;C Joyce,&nbsp;D O'Halloran","doi":"10.1530/EDM-13-0044","DOIUrl":"https://doi.org/10.1530/EDM-13-0044","url":null,"abstract":"<p><strong>Unlabelled: </strong>We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.</p><p><strong>Learning points: </strong>Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130044"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40298892","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":"Pseudohypoaldosteronism type 1: clinical features and management in infancy.","authors":"N Amin,&nbsp;N S Alvi,&nbsp;J H Barth,&nbsp;H P Field,&nbsp;E Finlay,&nbsp;K Tyerman,&nbsp;S Frazer,&nbsp;G Savill,&nbsp;N P Wright,&nbsp;T Makaya,&nbsp;T Mushtaq","doi":"10.1530/EDM-13-0010","DOIUrl":"https://doi.org/10.1530/EDM-13-0010","url":null,"abstract":"<p><strong>Unlabelled: </strong>Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction.</p><p><strong>Learning points: </strong>Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130010"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1530/EDM-13-0010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300432","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":"Cushing's syndrome due to ectopic ACTH production by a nasal paraganglioma.","authors":"F Serra,&nbsp;S Duarte,&nbsp;S Abreu,&nbsp;C Marques,&nbsp;J Cassis,&nbsp;M Saraiva","doi":"10.1530/EDM-13-0038","DOIUrl":"https://doi.org/10.1530/EDM-13-0038","url":null,"abstract":"<p><strong>Unlabelled: </strong>Ectopic secretion of ACTH is an infrequent cause of Cushing's syndrome. We report a case of ectopic ACTH syndrome caused by a nasal paraganglioma, a 68-year-old female with clinical features of Cushing's syndrome, serious hypokalaemia and a right paranasal sinus' lesion. Cranial magnetic resonance image showed a 46-mm mass on the right paranasal sinuses. Endocrinological investigation confirmed the diagnosis of ectopic ACTH production. Resection of the tumour normalised ACTH and cortisol secretion. The tumour was found to be a paraganglioma through microscopic analysis. On follow-up 3 months later, the patient showed nearly complete clinical recovery. Ectopic ACTH syndrome due to nasal paraganglioma is extremely uncommon, as only two other cases have been discussed in the literature.</p><p><strong>Learning points: </strong>Ectopic Cushing's syndrome accounts for 10% of Cushing's syndrome etiologies.Most paraganglioma of the head and neck are not hormonally active.Nasal paraganglioma, especially ACTH producing, is a very rare tumour.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130038"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40298889","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":"Late bone metastasis from an apparently benign oncocytic follicular thyroid tumor.","authors":"Mauro Boronat,&nbsp;Juan J Cabrera,&nbsp;Carmen Perera,&nbsp;Concepción Isla,&nbsp;Francisco J Nóvoa","doi":"10.1530/EDM-13-0051","DOIUrl":"https://doi.org/10.1530/EDM-13-0051","url":null,"abstract":"<p><strong>Unlabelled: </strong>A man underwent total thyroidectomy for goiter when he was 62 years old. The pathology report informed on a 5.5 cm oncocytic follicular adenoma and a 3.5 mm papillary microcarcinoma. Due to the papillary tumor, he was treated with ablative radioiodine therapy and suppressive doses of levothyroxine. After uneventful follow-up for 9 years, increased levels of serum thyroglobulin were detected. Further imaging studies including a whole body scan (WBS) after an empirical dose of 200 mCi (131)I were negative. Two years later, a (99m)Tc SestaMIBI WBS and a 2-[(18)F]-fluoro-2-deoxy-d-glucose positron-emission tomography showed a well-delimited focal uptake in the right femur. A bone biopsy of the lesion demonstrated metastasis of follicular thyroid carcinoma. Retrospective histological reexamination of available material from the primary oncocytic thyroid tumor failed to reveal definitive traits of malignancy.</p><p><strong>Learning points: </strong>Oncocytic follicular thyroid tumors are a relatively uncommon variant of follicular thyroid neoplasms mostly composed of distinctive large oxyphilic cells (Hürthle cells).Criteria for the distinction between benign and malignant oncocytic neoplasms are not different from those used in the diagnosis of ordinary follicular tumors.Some cases of apparently benign oncocytic neoplasms have been found to develop malignant behavior.Search to rule out vascular and capsular invasion should be particularly exhaustive in histological assessment of oncocytic thyroid tumors.Even so, long-term surveillance remains appropriate for patients with large apparently benign oncocytic tumors.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130051"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40298896","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":"Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta.","authors":"S A S Aftab,&nbsp;N Reddy,&nbsp;N L Owen,&nbsp;R Pollitt,&nbsp;A Harte,&nbsp;P G McTernan,&nbsp;G Tripathi,&nbsp;T M Barber","doi":"10.1530/EDM-13-0002","DOIUrl":"https://doi.org/10.1530/EDM-13-0002","url":null,"abstract":"<p><strong>Unlabelled: </strong>A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was -2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI.</p><p><strong>Learning points: </strong>OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen).The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene.Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130002"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300542","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":"Needle aspirate PTH in diagnosis of primary hyperparathyroidism due to intrathyroidal parathyroid cyst.","authors":"Deep Dutta,&nbsp;Chitra Selvan,&nbsp;Manoj Kumar,&nbsp;Saumik Datta,&nbsp;Ram Narayan Das,&nbsp;Sujoy Ghosh,&nbsp;Satinath Mukhopadhyay,&nbsp;Subhankar Chowdhury","doi":"10.1530/EDM-13-0019","DOIUrl":"https://doi.org/10.1530/EDM-13-0019","url":null,"abstract":"<p><strong>Unlabelled: </strong>Parathyroid cysts are rare (0.8-3.41% of all parathyroid lesions) and usually arise secondary to cystic degeneration of parathyroid adenomas. Intrathyroidal parathyroid cysts are extremely rare with only three cases reported till date. We present a 24-year-old female with clinical and biochemical features of primary hyperparathyroidism (PHPT; Ca(2) (+): 12.1 mg/dl; intact parathyroid hormone (iPTH): 1283 pg/ml) and poor radiotracer uptake with minimal residual uptake in the left thyroid lobe at 2 and 4 h on Tc(99m) sestamibi imaging. Neck ultrasonography (USG) revealed 0.6×1 cm parathyroid posterior left lobe of thyroid along with 22×18 mm simple thyroid cyst. USG-guided fine-needle aspiration (FNA) and needle tip iPTH estimation (FNA-iPTH) from parathyroid lesion was inconclusive (114 pg/ml), necessitating FNA of thyroid cyst, which revealed high iPTH (3480 pg/ml) from the aspirate. The patient underwent a left hemithyroidectomy. A >50% drop in serum iPTH 20 min after left hemithyroidectomy (29.4 pg/ml) along with histopathology suggestive of intrathyroidal cystic parathyroid adenoma (cystic lesion lined by chief cell variant parathyroid cells without any nuclear atypia, capsular or vascular invasion surrounded by normal thyroid follicles) confirmed that the parathyroid cyst was responsible for PHPT. This report highlights the importance of FNA-iPTH in localizing and differentiating a functional parathyroid lesion from nonfunctional tissue in PHPT.</p><p><strong>Learning points: </strong>Fine-needle aspiration from suspected parathyroid lesion and needle tip iPTH (FNA-iPTH) estimation from the saline washing has an important role in localizing primary hyperparathyroidism (PHPT).FNA-iPTH estimation may help in differentiating functional from nonfunctional parathyroid lesion responsible for PHPT.iPTH estimation from aspirate of an intrathyroid cyst is helpful in differentiating intrathyroidal parathyroid cyst from thyroid cyst.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130019"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300434","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":"Don't forget your hammer if you want to go to work!","authors":"Mohd Shazli Draman,&nbsp;Aoife Brennan,&nbsp;Michael Cullen,&nbsp;John Nolan","doi":"10.1530/EDM-13-0034","DOIUrl":"https://doi.org/10.1530/EDM-13-0034","url":null,"abstract":"<p><strong>Unlabelled: </strong>Bilateral lower limb paraesthesia is a common diabetic neuropathy presentation in any busy diabetic clinics. We present a case of a 28-year-old man with a long history of type 1 diabetes mellitus presented with bilateral paraesthesia of both feet and unsteady gait. The patient was able to feel a 10 g monofilament. The presence of brisk reflexes and upgoing plantars in this patient were pointers that further evaluation was warranted. Further investigations revealed diagnosis of subacute combined degeneration of spinal cord. The patient had rapid symptomatic improvement with i.m. vitamin B12 injection. The high volume of patients attending the outpatients with diabetes and paraesthesia can blind us to other possible diagnoses. This article emphasizes that peripheral neuropathy in a diabetic may be due to aetiologies other than diabetes.</p><p><strong>Learning points: </strong>Pernicious anaemia is known to be more common in patients with type 1 diabetes.Cobalamin deficiency is reversible if detected early enough and treated by B12 replacement.By contrast, diabetic neuropathy is generally a progressive complication of diabetes.Peripheral neuropathy in a diabetic may be due to aetiologies other than diabetes.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130034"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300439","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 hypopituitarism with psychosis.","authors":"M Nwokolo,&nbsp;J Fletcher","doi":"10.1530/EDM-13-0007","DOIUrl":"https://doi.org/10.1530/EDM-13-0007","url":null,"abstract":"<p><strong>Unlabelled: </strong>A 46-year-old woman presented multiple times in a 4-month period with hypotension, sepsis, hypoglycaemia and psychosis. A low random cortisol in combination with her presenting complaint made adrenal insufficiency the likely diagnosis. Fluid resuscitation and i.v. steroid therapy led to clinical improvement; however, a short synacthen test (SST) demonstrated an apparently satisfactory cortisol response. The test was repeated on a later admission and revealed a peak cortisol level of 25 nmol/l (>550 nmol/l). Concurrent treatment with i.v. hydrocortisone had led to a false-negative SST. ACTH was <5 ng/l (>10 ng/l), indicating secondary adrenal failure. We discuss the challenges surrounding the diagnosis of adrenal insufficiency and hypopituitarism, the rare complication of psychosis and a presumptive diagnosis of autoimmune lymphocytic hypophysitis (ALH).</p><p><strong>Learning points: </strong>Adrenocortical insufficiency must be considered in the shocked, hypovolaemic and hypoglycaemic patient with electrolyte imbalance. Rapid treatment with fluid resuscitation and i.v. corticosteroids is vital.Polymorphic presentations to multiple specialities are common. Generalised myalgia, abdominal pain and delirium are well recognised, psychosis is rare.A random cortisol can be taken with baseline bloods. Once the patient is stable, meticulous dynamic testing must follow to confirm the clinical diagnosis.The chronic disease progression of ALH is hypothesised to be expansion then atrophy of the pituitary gland resulting in empty sella turcica and hypopituitarism.If hypopituitarism is suspected, an ACTH deficiency should be treated prior to commencing thyroxine (T4) therapy as unopposed T4 may worsen features of cortisol deficiency.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130007"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300544","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":"Medullary thyroid carcinoma and duodenal calcitonin-secreting neuroendocrine tumour: more than coincidence?","authors":"I Huguet,&nbsp;C Lamas,&nbsp;R Vera,&nbsp;A Lomas,&nbsp;R P Quilez,&nbsp;A Grossman,&nbsp;F Botella","doi":"10.1530/EDM-13-0021","DOIUrl":"https://doi.org/10.1530/EDM-13-0021","url":null,"abstract":"<p><strong>Unlabelled: </strong>Neuroendocrine tumours (NETs) are a heterogeneous group of neoplasms whose management can be problematic. In many cases, multiple tumours may occur in the same patient or his or her family, and some of these have now been defined genetically, although in other cases the underlying gene or genes involved remain unclear. We describe a patient, a 63-year-old female, who was diagnosed with a medullary thyroid carcinoma (MTC), which was confirmed pathologically after thyroidectomy, but whose circulating calcitonin levels remained elevated after thyroidectomy with no evidence of metastatic disease. Subsequently, an entirely separate and discrete duodenal NET was identified; this was 2.8 cm in diameter and was removed at partial duodenectomy. The tumour stained immunohistochemically for calcitonin, and its removal led to persistent normalisation of the circulating calcitonin levels. There was no germline mutation of the RET oncogene. This is the first identification of a duodenal NET secreting calcitonin and also the first demonstration of a second tumour secreting calcitonin in a patient with MTC. We suggest that where calcitonin levels remain high after removal of a MTC a search for other NETs should be conducted.</p><p><strong>Learning points: </strong>NETs are a complex and heterogeneous group of related neoplasms, and multiple tumours may occur in the same patient.Calcitonin can be produced ectopically by several tumours outside the thyroid.Persistently elevated calcitonin levels after removal of a MTC may not necessarily indicate persisting or metastatic disease from the tumour.The real prevalence of calcitonin-producing NETs may be underestimated, as serum determination is only recommended in the diagnosis of pancreatic NETs.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130021"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300435","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":"Vanishing hypercalciuric kidney stones after treating underlying acromegaly.","authors":"Eline van der Valk,&nbsp;Tom Tobe,&nbsp;Aline Stades,&nbsp;Alex Muller","doi":"10.1530/EDM-13-0001","DOIUrl":"https://doi.org/10.1530/EDM-13-0001","url":null,"abstract":"<p><strong>Unlabelled: </strong>A 53-year-old male presented with recurrent calcium oxalate kidney stones as a first sign of underlying acromegaly, which vanished when his acromegaly was controlled. The exact mechanism behind hypercalciuria and urolithiasis in acromegaly is not yet clear. By discussing this case, a short overview of the pathophysiology of hypercalciuria in acromegaly and practical insights are given.</p><p><strong>Learning points: </strong>Hypercalciuria is a common finding in acromegaly.There are only few reports describing hypercalciuric kidney stones in acromegaly.We assume that in acromegaly there is a primary role of IGF1-mediated, PTH-independent increase in calcitriol synthesis resulting in hypercalciuric kidney stones.</p>","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130001"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300541","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}