Journal of Diabetes and Endocrinology Association of Nepal <p>The official journal of the Diabetes and Endocrinology Association of Nepal. The journal allows readers to freely read, download, copy, distribute, print, search, or link to the full texts of its articles and to use them for any other lawful purpose.</p> <p><a href="" rel="license"><img style="border-width: 0;" src="" alt="Creative Commons Licence"></a><br>The articles in the Journal of Diabetes and Endocrinology Association of Nepal are licensed under a <a href="" rel="license">Creative Commons Attribution-NonCommercial 4.0 International License</a>.&nbsp;</p> <p>See <a href="">About</a> the journal for the full Open Access policy and the Plagiarism Policy.</p> en-US <p>This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for non-commercial purposes only, and only so long as attribution is given to the creator.</p> (Dr. Robin Maskey) (Sioux Cumming) Tue, 14 May 2024 13:20:05 +0000 OJS 60 Episodic Hyponatremia in Acute Intermittent Porphyria: A Case Report <p><strong>Background: </strong>Acute intermittent porphyria (AIP) is an uncommon, ubiquitously distributed autosomal dominant disorder with low penetrance characterized by decreased enzyme activity of hydroxymethylbilane synthase (HMBS) an enzyme of heme synthesis pathway. It is often an elusive diagnosis due to rarity and non-specific signs and symptoms.</p> <p><strong>Case report: </strong>A 28 years old female from Nawalparasi (district in central Nepal) presented with history of recurrent episodes of abdominal pain and vomiting. Her current episode began two weeks before presentation to our center. Abdominal pain was diffuse, colicky in nature without exacerbating or relieving factor. There was no postural or diurnal variation. On examination, there was no tenderness and abdominal examination findings were unremarkable. Her biochemical investigations were unremarkable except for severe hyponatremia (S. Na of 100mmol/L) which was SIADH/SIADH like presentation (Table 1 and Table 2). Severe episodic hyponatremia, port-wine color of urine, gastrointestinal symptoms and previous hospital stay two years back with similar episode of hyponatremia and abdominal pain were valuable clues for suspicion of acute porphyria. On further evaluation, patient was found to have presence of porphyrogenic precursors in urine and diagnosis of acute intermittent porphyria was confirmed. After diagnosis, she was managed conservatively with carbohydrate loading with intravenous dextrose, opioids and pregabalin as analgesics. Her symptoms gradually improved, hyponatremia subsided and was discharged in normal condition.</p> <p><strong>Conclusion: </strong>Acute intermittent porphyria has signs and symptoms common to several clinical, neurological, psychiatric and gastroenterological pathologies, which complicate diagnosis. In young patients with hyponatremia (with SIADH –like picture), AIP should be considered in differential diagnosis.</p> S Khatiwada, B Baral, S Lamichhane, B Shrestha, MK Ranjan Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 A Rare Case of Adrenocortical Carcinoma Presenting as Cushing’s Syndrome <p><strong>Background: </strong>We report a case of adrenocortical carcinoma presenting with atypical features of Cushing’s syndrome in a young 20 year old female with duration of symptomatology of four months. It is imperative to consider malignancy as differential diagnosis for etiology of Cushing’s syndrome with acute to subacute presentation.</p> R Nepal, A Bisht, PS Shrestha, MR Bajracharya Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 Tumor Induced Osteomalacia: A Rare Case of Metabolic Bone Disease, often Underdiagnosed or Misdiagnosed <p><strong>Background: </strong>We present a case of a 42-year female with Tumor induced osteomalacia (TIO) who presented with multiple fragility fractures and decrease in height. The duration from symptom onset to the diagnosis and treatment was 5 years. It is imperative to keep TIO as differential in patients with chronic hypophosphatemia and osteomalacia.</p> KP Wasti, R Nepal, D Malla, BB Karki Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 Metabolic Bone Disease due to Renal Tubular Acidosis as a Primary Manifestation in a Patient with Sjogren’s Syndrome: A Case Report <p><strong>Background: </strong>Renal tubular acidosis (RTA) is a group of diseases where metabolic acidosis develops due to inability of renal tubules to maintain acid base balance despite normal glomerular filtration rate. Uncorrected acidosis in RTA can cause excess osteoclastic bone resorption and result in severe metabolic bone disease like rickets, osteomalacia and pathological fracture. Sjogren’s syndrome can cause distal RTA (type 1). Here, we report a case of a 35 years old female who presented with metabolic bone disease secondary to RTA resulting from Sjogren’s syndrome<strong>.</strong></p> A Bisht, PS Shrestha, D Mall, K Wasti Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 Generalized Hyperpigmentation in Graves' Disease: A Case Report <p><strong>Background: </strong>Hyperpigmentation is rarely described as a clinical feature of hyperthyroidism, however, it is one of the rare cutaneous manifestations of Graves' Disease. There are few reported cases of Grave's disease with diffuse hyperpigmentation. We hereby describe a rare case with diffuse hyperpigmentation induced by Graves' disease. Case: A 29-year-old woman came with the complaints of generalized hyperpigmentation of body since the past 3 months. On examination, hyperpigmentation was observed throughout the whole body, especially on the face, neck and the extremities.</p> <p><strong>Conclusion: </strong>The pathophysiological mechanism is not well elucidated. It has been hypothesized that thyrotoxicosis is associated with an increased ACTH release causing overproduction of melanin and that melanocytes express TSH receptors resulting in their proliferation when stimulated with TRAb. More studies are needed to understand the relationship between skin color modification and thyroid function status.</p> S Shah, S Shakya, A Shakya, R Bhari Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 TSHoma: A Rare cause of Pituitary Adenoma <p><strong>Background: </strong>The TSH-producing adenoma (TSHoma) prevalence in the general population is 1 to 2 cases per million, accounting for less than 2% of all pituitary adenomas. It was in 1960s where the first case of TSHoma was reported with the inappropriate secretion of TSH, could only be recognized after the introduction of the TSH RIAs. The recent development of ultrasensitive TSH assays facilitates earlier diagnosis by detecting TSH in the presence of elevated free thyroid hormones, thus ruling out primary hyperthyroidism, primarily Graves’ disease. Failure to detect the presence of TSHoma may result in dramatic consequences. This study is a review of our experience in the management of TSHoma at National academy of Medical sciences, Endocrine Unit. Here we report a 36 years old male presented with weight loss, increased frequency in stool, hand tremors and loss of libido, who was found to have TShoma in further investigation and was managed.</p> D Mall, T Koirala, A Bisht, K Wasti, R Nepal Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 Hemolytic Anemia and Thrombocytopenia with Hyperthyroidism : A Case Report <p><strong>Background: </strong>Hemolytic anemia occurs when there are low number of red blood cells due to excess of hemolysis in the body. Thrombocytopenia is a condition that occurs when the platelet count is too low. Hyperthyroidism is when the thyroid gland makes more thyroid hormones than the body needs. Only a few cases of hyperthyroidism associated with hemolytic anemia and thrombocytopenia have been reported. We report a case of a 50 year old female, a case of Type 2 diabetes mellitus who presented with symptoms of hyperthyroidism, anemia and thrombocytopenia. Blood investigations were done which showed findings suggestive of primary hyperthyroidism and hemolytic anemia. She was managed with blood transfusion, insulin and steroid. This case highlights, though rare, hemolytic anemia and thrombocytopenia in a setting of hyperthyroidism.</p> NM Jha, B Adhikari, A Thapa, A Mishra, R Maskey Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 A rare Case Report of Hurler syndrome with multisystem involvement including glucose intolerance <p><strong>Background: </strong>Mucopolysaccharidosis type I (Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. An interesting case of a 19 year old male with a combination of skeletal, neurological, ophthalmologic, and radiological findings with MPS I-(Hurler syndrome) has been presented here in this case report.</p> S Thapa, TL Upadhyay, B Paudel, R Gyawali Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 President's Message <p>No abstract available.</p> Robin Maskey Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000 Editor's Note - Special Issue <p>No abstract available.</p> Dipak Mall Copyright (c) 2024 The Author(s) Tue, 14 May 2024 00:00:00 +0000