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Endocrinology, Diabetes & Metabolism Case Reports
Scopus
ISSN 2052-0573 · Bioscientifica · 877 artikel di indeks
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Artikel Jurnal
RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide
RFX6 maturity-onset diabetes of the young (RFX6-MODY) is a relatively new MODY subtype, with limited guidance on management, particularly in pregnancy. We report the clinical features and management of two female patients with RFX6-MODY and their progression during and post-pregnancy. These…
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Atypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India
Medullary thyroid carcinoma (MTC) constitutes 5–10% of thyroid malignancies but accounts for 15% of thyroid cancer-related mortality. Twenty percent of MTC are hereditary and are part of familial MTC or multiple endocrine neoplasia (MEN) syndromes. Classical MTC presents as a nodular goiter with or…
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Unusual cause of post-bariatric non-insulin-mediated hypoglycemia due to adult growth hormone deficiency
We report a 26-year-old woman, five years after sleeve gastrectomy, who presented with a two-year history of recurrent postprandial hypoglycemia. During symptomatic episodes (blood glucose as low as 37 mg/dL), she experienced adrenergic symptoms (tremors, hunger, and sweating) and neuroglycopenic…
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From herbal hope to hormonal havoc: chronic ashwagandha use and HPA axis suppression
This case report describes a 55-year-old postmenopausal woman who presented with Cushingoid features and progressive weight gain over a year. Evaluation revealed low basal cortisol levels and a suboptimal response to the ACTH stimulation test, indicative of adrenal insufficiency. Further…
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Acute-onset type 1 diabetes in an older patient with severe hypothermia and diabetic ketoacidosis (pH 6.84) triggered by traumatic hemothorax
A 77-year-old Japanese woman with a history of spinocerebellar degeneration, recently diagnosed with mild glucose intolerance managed by diet, sustained blunt chest trauma from a fall 7 days before admission. Three days prior, she developed general fatigue, thirst, and polydipsia. On arrival, she…
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A nonfunctional adrenal incidentaloma revealed by intestinal obstruction: metastatic adrenocortical carcinoma diagnosed by surgery
This case report describes an 84-year-old male patient who presented with symptoms of intestinal obstruction and was subsequently diagnosed with metastatic adrenocortical carcinoma (ACC), a rare and aggressive endocrine malignancy. The patient arrived at the emergency department with abdominal…
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Multidisciplinary diagnosis and treatment of iatrogenic Cushing syndrome in a patient with obsessive-compulsive disorder
Iatrogenic Cushing syndrome caused by topical corticosteroid preparations is only reported in infants. We describe a case in a patient with obsessive-compulsive disorder: the patient had tic disorder and obsessive-compulsive disorder, and the condition was under stable control. After the appearance…
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Autoimmune hyperthyroidism following haematopoietic stem cell transplant for multiple sclerosis in an adult female: a case report and literature review
Haematopoietic stem cell transplant (HSCT) is a novel treatment utilised in a number of malignant and non-malignant conditions, with promising results in multiple sclerosis (MS), particularly in those not responding to previous disease-modifying therapies. There is existing evidence to suggest that…
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Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate
We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) that were unresponsive to lifestyle modifications. Lipoprotein fractionation revealed…
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Progression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY
Activating mutations in the ABCC8 gene are extremely rare and cause ABCC8-MODY. The phenotype is variable with onset of diabetes in childhood/early adulthood. Retinopathy is the most common reported complication. We describe a 31-year-old primigravida woman referred to and seen at our antenatal…
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Bilateral adrenal masses and adrenal insufficiency: a rare case of primary adrenal lymphoma
Primary adrenal lymphoma (PAL) is a rare malignancy typically considered in patients presenting with features of adrenal insufficiency and bilateral adrenal gland enlargement. Early diagnosis and differentiation from other causes of bilateral adrenal masses are essential to guide appropriate…
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Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases
Mitochondrial diseases cause systemic failure of energy production and can manifest as various disorders of hormone production and secretion from endocrine organs. These effects can prevent normal growth in children, resulting in adults of short stature. We therefore explored the nutritional and…
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Health check revealed elevation of creatine kinase related to hypothyroidism
It is relatively rare to find a significant increase in creatine kinase (CK) related to hypothyroidism through a health examination. This case report describes an asymptomatic adult patient in whom an asymptomatic elevation of serum CK was discovered incidentally during a routine health check. The…
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Diabetic ketoacidosis as the initial presentation of hepatogenous diabetes: a first reported case
Hepatogenous diabetes, a secondary form of diabetes arising from chronic liver disease, particularly cirrhosis, is a well-documented complication. However, diabetic ketoacidosis (DKA) in the context of hepatogenous diabetes has not been reported in the literature. We report the case of a…
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Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition predisposing to tumors, including pheochromocytomas and paragangliomas. Reported penetrance is close to 100%, but clinical presentation is highly variable. We present a case of a 79-year-old woman with an atypical and late…
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Differential reversibility of anterior and posterior pituitary dysfunction in delayed recurrent pediatric Rathke’s cleft cyst
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…
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Combination therapy of pasireotide and pegvisomant for aggressive acromegaly with an immature PIT1-lineage PitNET
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)…
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Multivessel spontaneous coronary artery dissection in a young woman using cabergoline
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…
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Recognising pituitary and thyroid dysfunction after craniospinal radiotherapy: an underrecognised mixed endocrine toxicity
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 –…
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Artikel Jurnal
Longitudinal evaluation of recurrent thyrotoxicosis in a single patient across four pregnancies: a case report and literature review
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: 200 ng/mL; reference range:,