Filter

Refine by Access

Refine by Subject

Refine by Date

—
  • Print
  • Save

Browse

You are looking at 1 - 10 of 25 items for :

  • Gland/Organ x
  • Clinical Overview x
  • Refine by Access: All content x
Clear All
Open access

Diabetes insipidus in a patient with PCOS treated with Depo-Provera

Amanda I Martinez and Nicholas Mezitis

Summary

Depot medroxyprogesterone acetate, also known as Depo-Provera, is a progesterone-only contraceptive that is administered by injection to patients every three months. We describe the case of a 19-year-old female who was diagnosed with central diabetes insipidus following the administration of the contraceptive injection Depo-Provera. The patient was diagnosed with polycystic ovarian syndrome at age 16 and was originally prescribed oral contraceptives to restore menstrual regularity. Three years later, Depo-Provera was substituted for convenience, and symptoms of polyuria and polydipsia appeared one month after initiating the progesterone-only regimen. We are proposing that central diabetes insipidus may be a possible adverse effect of Depo-Provera in women with polycystic ovarian syndrome who receive the progesterone-only contraception, due to the interference of their arginine vasopressin mechanism through the alteration of estrogen levels. We review potential mechanisms through the presentation of previously completed research in polycystic ovarian syndrome.

Learning points

  • We propose that although rare, the decrease in estrogen that is experienced during the administration of Depo-Provera can interfere with arginine vasopressin release in patients with polycystic ovarian syndrome (PCOS).

  • Increased awareness of possible lasting adverse effects on fluid balance with unopposed progesterone administration in PCOS is important, as this case of the development of diabetes insipidus suggests.

  • Discussion of such potential side effects is important when considering contraceptive options for the regulation of menses in patients with PCOS.

DOI:
https://doi.org/10.1530/EDM-22-0289
Volume 2022: Issue 1
Open access

Nodular-like glomerular lesion after long-standing chronic renal infection in a patient with medullary sponge kidney and mild hyperglycemia

Saki Nakashima, Masahiro Kawada, Akinari Sekine, Masayuki Yamanouchi, Daisuke Ikuma, Hiroki Mizuno, Yuki Oba, Eiko Hasegawa, Tatsuya Suwabe, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Naoki Sawa, Junichi Hoshino, and Yoshifumi Ubara

A 63-year-old Japanese woman was admitted to our institute for the evaluation of proteinuria. The patient was diagnosed with medullary sponge kidney, distal type renal tubular acidosis, and renal infection at the age of 37. Thereafter, the patient had repeated renal infections. Urinary proteinuria appeared at around the age of 61 and gradually increased up to 1.0 g daily. In the same period, glycated hemoglobin (HbA1c) increased to 7.0%. On kidney biopsy, light microscopy showed a nodular glomerular lesion and capsular drop. Linear staining for immunoglobulin G along the glomerular basement membrane was observed by immunofluorescence. Electron microscopy showed thickening of the glomerular basement membrane to a width of 800–900 nm. A class III glomerular lesion was diagnosed according to the Tervaert classification. This case indicates that mild but prolonged hyperglycemia for more than 10 years may also contribute to the formation of nodular lesions, although long-standing repeated chronic renal infection and chronic acidosis may have been a precipitating factor in the formation of diabetic nephropathy, including nodular glomerular lesions. This hypothesis is of interest because nodular lesions specific to diabetes are currently considered to be associated with long-term severe hyperglycemia.

Learning points

  • Nodular glomerular lesions in diabetes mellitus are thought to be associated with long-term severe hyperglycemia.

  • This case shows that although mild, long-term hyperglycemia for more than 10 years may also contribute to the formation of nodular lesions and that repeated chronic kidney infections over the years and chronic acidosis may be facilitating factors in the formation of diabetic nephropathy, including nodular glomerular lesions.

  • This case appears to be idiopathic nodular glomerulosclerosis of the medullary sponge kidney associated with chronic urinary tract infection.

DOI:
https://doi.org/10.1530/EDM-22-0217
Volume 2022: Issue 1
Open access

Canagliflozin-associated severe hyponatremia: a rare and potentially adverse effect?

Maheswaran Dhanasekaran, Siddharth Narayanan, Ioannis Mastoris, and Suchita Mehta

Summary

Sodium-glucose cotransporter-2 inhibitors (SGLT2i) induce osmotic diuresis by inhibiting the proximal renal tubular reabsorption of the filtered glucose load, which in turn can occasionally lead to severe dehydration and hypotension amidst other adverse effects. We present a case of a 49-year-old man with type 2 diabetes mellitus (T2D) on canagliflozin, a SGLT2i. The patient was brought to the emergency room following a motor vehicle accident. He was confused and had an altered mental status. His blood alcohol and urine toxicology screens were negative. Initial investigations revealed that he had severe hyponatremia with euglycemic ketoacidosis. The adverse condition was reversed with close monitoring and timely management, and the patient was eventually discharged. This is the first report to suggest hyponatremia as a potentially serious adverse effect following SGLT2i therapy. Its impact on the renal tubule handling of sodium and water is not yet well characterized. While further studies are warranted to understand better the pathophysiological mechanisms associated with SGLT2i-induced adverse effects, timely dose reduction or perhaps even its temporary discontinuation may be recommended to prevent complications.

Learning points

  • Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are usually well-tolerated, but some serious adverse effects have been documented.

  • Our case report suggests hyponatremia as a potential, rare side effect of SGLT2i and makes physicians aware of the occurrence of such life-threatening but preventable complications.

  • Timely and close monitoring of the patient, with temporary discontinuation of this drug, may be recommended towards effective management.

  • Studies demonstrating a comprehensive understanding of SGLT2i-related electrolyte derangements are warranted.

DOI:
https://doi.org/10.1530/EDM-21-0035
Volume 2022: Issue 1
Open access

Juxtaglomerular cell tumour of the kidney: a rare cause of resistant hypertension

Nikitas S Skarakis, Irene Papadimitriou, Labrini Papanastasiou, Sofia Pappa, Anastasia Dimitriadi, Ioannis Glykas, Konstantinos Ntoumas, Penelope Lampropoulou, and Theodora Kounadi

Summary

Juxtaglomerular cell tumour (JGCT) is an unusually encountered clinical entity. A 33-year-old man with severe long-standing hypertension and hypokalaemia is described. The patient also suffered from polyuria, polydipsia, nocturia and severe headaches. On admission, laboratory investigation revealed hypokalaemia, kaliuresis, high aldosterone and renin levels, and the abdomen CT identified a mass of 4 cm at the right kidney. Kidney function was normal. Following nephrectomy, the histological investigation revealed the presence of a JGCT. Immunostaining was positive for CD34 as well as for smooth muscle actin and vimentin. Following surgery, a marked control of his hypertension with calcium channel blockers and normalization of the serum potassium, renin or aldosterone levels were reached. According to our findings, JGCT could be included in the differential diagnosis of secondary hypertension as it consists of a curable cause. The association of JGCT with hypertension and hypokalaemia focusing on the clinical presentation, diagnostic evaluation and management is herein discussed and a brief review of the existing literature is provided.

Learning points

  • Juxtaglomerular cell tumours (JGCT), despite their rarity, should be included in the differential diagnosis of secondary hypertension as they consist of a curable cause of hypertension.

  • JGCT could be presented with resistant hypertension along with hypokalaemia, kaliuresis and metabolic alkalosis. Early recognition and management can help to prevent cardiovascular complications.

  • Imaging (enhanced CT scans) may be considered as the primary diagnostic tool for the detection of renal or JGCT.

  • For the confirmation of the diagnosis, a histopathologic examination is needed.

DOI:
https://doi.org/10.1530/EDM-21-0042
Volume 2022: Issue 1
Open access

Infantile hypercalcaemia type 1: a vitamin D-mediated, under-recognised cause of hypercalcaemia

Ryizan Nizar, Nathan W P Cantley, and Jonathan C Y Tang

Summary

A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH). A homozygous, likely pathogenic, variant in CYP24A1 was found on molecular genetic analysis confirming the diagnosis. Management now focuses on removing excess vitamin D from the metabolic pathway as well as reducing calcium intake to achieve serum-adjusted calcium to the middle of the reference range. If undiagnosed, IIH can cause serious renal complications and metabolic bone disease.

Learning points

  • Infantile hypercalcaemia type 1 (IIH) is an autosomal recessive disorder characterised by homozygous mutations in the CYP24A1 gene that encodes the 24-hydroxylase enzyme used to convert active vitamin D metabolites such as 1,25-(OH)2-vitamin D into their inactive form.

  • IIH should be questioned in individuals presenting with a history of unexplained hypercalcaemia, especially if presenting from childhood and/or where there is an accompanying family history of the same in first and/or second degree relatives, causing complications such as nephrocalcinosis, pericarditis, and calcium-based nephrolithiasis.

  • Associated biochemistry of IIH is persistent mild to moderate hypercalcaemia, normal or raised 25-(OH)-vitamin D and elevated 1,25-(OH)2-vitamin D. An elevated ratio of 25-(OH)-vitamin D to 24,25-(OH)2-vitamin D can be a useful marker of defects in the 24-hydroxylase enzyme, whose measurement can be facilitated through the supra-regional assay service.

  • Management should focus on limiting the amount of vitamin D introduced into the body either via sunlight exposure or supplementation in addition to calcium dietary restriction to try and maintain appropriate calcium homeostasis

DOI:
https://doi.org/10.1530/EDM-21-0058
Volume 2021: Issue 1
Open access

A rare case of ectopic ACTH syndrome caused by primary renal neuroendocrine tumor

Paweena Chunharojrith, Kanapon Pradniwat, and Tanawan Kongmalai

Summary

Ectopic adrenocorticotropic hormone (ACTH) secretion is responsible for 5–15% of Cushing’s syndrome (CS). Neuroendocrine tumor (NET) is a common cause of ectopic ACTH syndrome (EAS). However, primary renal NET is exceedingly rare. Fewer than 100 cases have been reported and only a few cases presented with CS. Because of its rarity and lack of long-term follow-up data, clinical manifestations, biological behavior and prognosis are not well understood. Here, we report the case of a 51-year-old man who presented with clinical and laboratory findings compatible with EAS. CT scan revealed a lesion of uncertain nature at the lower pole of the left kidney. Octreotide scan found a filling defect at the lower pole of left kidney. It was difficult to determine if this finding was the true etiology or an incidental finding. Unfortunately, the patient’s clinical status rapidly deteriorated with limited medical treatment. The patient underwent left nephrectomy and left adrenalectomy. Histopathological examination confirmed NET with oncocytic features. Immunohistochemistry staining was positive for ACTH. The patient’s condition gradually improved. Additionally, glucocorticoid replacement was required only 6 months during a gradual recovery of hypothalamic pituitary adrenal axis achieved approximately three years after tumor removal. Although extremely rare, primary renal NET should be considered as a cause of EAS particularly in a patient with rapid clinical deterioration. Thorough investigation, early diagnosis and careful management are crucial to reduce morbidity and mortality.

Learning points

  • Primary renal NET is an extremely rare cause of ectopic ACTH syndrome.

  • Ectopic ACTH syndrome has a rapid onset with severe clinical manifestations. In this case, the patient’s condition deteriorated rapidly, resulting from severe hypercortisolism. Resection of the tumor is the most effective treatment.

  • Localization of ectopic ACTH-secreting tumors is very challenging. Multimodality imaging including CT, MRI, octreotide scan, and positron emission tomography plays a crucial role in identifying the tumors. However, each imaging modality has limitations.

DOI:
https://doi.org/10.1530/EDM-20-0076
Volume 2021: Issue 1
Open access

A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant

Rachel Wurth, Abhishek Jha, Crystal Kamilaris, Anthony J Gill, Nicola Poplawski, Paraskevi Xekouki, Martha M Quezado, Karel Pacak, Constantine A Stratakis, and Fady Hannah-Shmouni

Summary

Succinate dehydrogenase deficiency has been associated with several neoplasias, including renal cell carcinoma (RCC) and those associated with hereditary paraganglioma (PGL)/ pheochromocytoma (PHEO) syndromes, Carney dyad, and Carney triad. Carney triad is a rare multitumoral syndrome characterized by co-existing PGL, gastrointestinal stromal tumor (GIST), and pulmonary chondroma (CHO). We report a case of a 57-year-old male who presented with para-aortic and gastroesophogeal masses, and a right renal superior pole lesion, which were classified as multiple PGLs, a GIST, and a clear cell renal carcinoma, respectively, on pathology following surgical resection. Additionally, a CHO was diagnosed radiologically, although no biopsy was performed. A diagnosis of Carney triad was made. SDHB immunohistochemical staining was negative for the PGL and the GIST, indicating SDH-deficiency. Interestingly, the renal cell carcinoma (RCC) stained positive for both SDHB and SDHA. Subsequent genetic screening of SDH subunit genes revealed a germline inactivating heterozygous SDHA pathogenic variant (c.91 C>T, p.R31X). Loss of heterozygosity was not detected at the tumor level for the RCC, which likely indicated the SDHA variant would not be causative of the RCC, but could still predispose to the development of neoplasias. To the knowledge of the authors this is the first reported case of an SDHA pathogenic variant in a patient with Carney triad complicated by RCC.

Learning points

  • The succinate dehydrogenase enzyme is encoded by four subunit genes (SDHA, SDHB, SDHC, and SDHD; collectively referred to as SDHx), which have been implicated in several neoplasias and are classified as tumor suppressor genes.

  • Carney triad is a rare multiple-neoplasia syndrome presenting as an association of PGLs, GISTs, and CHOs.

  • Carney triad is most commonly associated with hypermethylation of SDHC as demonstrated in tumor tissue, but approximately 10% of cases are due to pathogenic SDHx variants.

  • Although SDHB pathogenic variants are most commonly reported in SDH-deficient renal cell carcinoma, SDHA disease-causing variants have been reported in rare cases.

DOI:
https://doi.org/10.1530/EDM-20-0170
Volume 2021: Issue 1
Open access

Thyroid storm with delayed hyperbilirubinemia and severe heart failure: indication and contraindication of plasma exchange

Tomomi Nakao, Ken Takeshima, Hiroyuki Ariyasu, Chiaki Kurimoto, Shinsuke Uraki, Shuhei Morita, Yasushi Furukawa, Hiroshi Iwakura, and Takashi Akamizu

Summary

Thyroid storm (TS) is a life-threatening condition that may suffer thyrotoxic patients. Therapeutic plasma exchange (TPE) is a rescue approach for TS with acute hepatic failure, but it should be initiated with careful considerations. We present a 55-year-old male patient with untreated Graves’ disease who developed TS. Severe hyperthyroidism and refractory atrial fibrillation with congestive heart failure aggregated to multiple organ failure. The patient was recovered by intensive multimodal therapy, but we had difficulty in introducing TPE treatment considering the risk of exacerbation of congestive heart failure due to plasma volume overload. In addition, serum total bilirubin level was not elevated in the early phase to the level of indication for TPE. The clinical course of this patient instructed delayed elevation of bilirubin until the level of indication for TPE in some patients and also demonstrated the risk of exacerbation of congestive heart failure by TPE.

Learning points:

  • Our patient with thyroid storm could be diagnosed and treated promptly using Japan Thyroid Association guidelines for thyroid storm.

  • Delayed elevation of serum bilirubin levels could make the decision of introducing therapeutic plasma exchange difficult in cases of thyroid storm with acute hepatic failure.

  • The risk of worsening congestive heart failure should be considered carefully when performing therapeutic plasma exchange.

DOI:
https://doi.org/10.1530/EDM-20-0036
Volume 2020: Issue 1
Open access

Intermixed medullary and papillary thyroid cancer in a patient with renal cell carcinoma

Shanika Samarasinghe, Simge Yuksel, and Swati Mehrotra

Summary

We report a rare case of concurrent medullary thyroid cancer (MTC) and papillary thyroid cancer (PTC) with intermixed disease in several of the lymph node (LN) metastases in a patient who was subsequently diagnosed with clear cell renal cell carcinoma (RCC). A 56 year old female presented with dysphagia and was found to have a left thyroid nodule and left superior cervical LN with suspicious sonographic features. Fine needle aspiration biopsy (FNAB) demonstrated PTC in the left thyroid nodule and MTC in the left cervical LN. Histopathology demonstrated multifocal PTC with 3/21 LNs positive for metastatic PTC. One LN in the left lateral neck dissection exhibited features of both MTC and PTC within the same node. In the right lobe, a 0.3 cm focus of MTC with extra-thyroidal extension was noted. Given persistent calcitonin elevation, a follow-up ultrasound displayed an abnormal left level 4 LN. FNAB showed features of both PTC and MTC on the cytopathology itself. The patient underwent repeat central and left radical neck dissection with 3/6 LNs positive for PTC in the central neck and 2/6 LNs positive for intermixed PTC and MTC in the left neck. There was no evidence of distant metastases on computed tomography and whole body scintigraphy, however a 1.9 x 2.5 cm enhancing mass within the right inter-polar kidney was discovered. This lesion was highly suspicious for RCC. Surgical pathology revealed a 2.5 cm clear cell RCC, Fuhrman grade 2/4, with negative surgical margins. She continues to be observed with stable imaging of her triple malignancies.

Learning points:

  • Mixed medullary-papillary thyroid neoplasm is characterized by the presence of morphological and immunohistochemical features of both medullary and papillary thyroid cancers within the same lesion. Simultaneous occurrence of these carcinomas has been previously reported, but a mixed disease within the same lymph node is an infrequent phenomenon.

  • Prognosis of mixed medullary-papillary thyroid carcinomas is determined by the medullary component. Therefore, when PTC and MTC occur concurrently, the priority should be given to the management of MTC, which involves total thyroidectomy and central lymph node dissection.

  • Patients with thyroid cancer, predominantly PTC, have shown higher than expected rates of RCC. To our knowledge, this is the first report describing the combination of MTC, PTC, and RCC in a single patient.

DOI:
https://doi.org/10.1530/EDM-20-0025
Volume 2020: Issue 1
Open access

Milk-alkali syndrome: a ‘quick ease’ or a ‘long-lasting problem’

Mawson Wang, Catherine Cho, Callum Gray, Thora Y Chai, Ruhaida Daud, and Matthew Luttrell

Summary

We report the case of a 65-year-old female who presented with symptomatic hypercalcaemia (corrected calcium of 4.57 mmol/L) with confusion, myalgias and abdominal discomfort. She had a concomitant metabolic alkalosis (pH 7.46, HCO3 - 40 mmol/L, pCO2 54.6 mmHg). A history of significant Quick-Eze use (a calcium carbonate based antacid) for abdominal discomfort, for 2 weeks prior to presentation, suggested a diagnosis of milk-alkali syndrome (MAS). Further investigations did not demonstrate malignancy or primary hyperparathyroidism. Following management with i.v. fluid rehydration and a single dose of i.v. bisphosphonate, she developed symptomatic hypocalcaemia requiring oral and parenteral calcium replacement. She was discharged from the hospital with stable biochemistry on follow-up. This case demonstrates the importance of a detailed history in the diagnosis of severe hypercalcaemia, with MAS representing the third most common cause of hypercalcaemia. We discuss its pathophysiology and clinical importance, which can often present with severe hypercalcaemia that can respond precipitously to calcium-lowering therapy.

Learning points:

  • Milk-alkali syndrome is an often unrecognised cause for hypercalcaemia, but is the third most common cause of admission for hypercalcaemia.

  • Calcium ingestion leading to MAS can occur at intakes as low as 1.0–1.5 g per day in those with risk factors.

  • Early recognition of this syndrome can avoid the use of calcium-lowering therapy such as bisphosphonates which can precipitate hypocalcaemia.

DOI:
https://doi.org/10.1530/EDM-20-0028
Volume 2020: Issue 1