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Mashup Score: 2
Summary The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history. The family history was unknown as the patient was adopted. Thyroid-specific antibodies were undetectable, and thyroid ultrasound revealed a normal thyroid gland without nodules. After the resolution of SARS-CoV-2 infection, the diagnostic workup continued, and the pituitary MRI revealed a small area ascribable to a microadenoma. Due to atrial fibrillation, the execution of the T3 test was contraindicated. The octreotide long-acting release (LAR) test showed an
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Mashup Score: 1A challenging case of a pituitary macroadenoma and toxic thyroid adenoma with inappropriate TSH secretion - 12 day(s) ago
Summary Thyroid-stimulating hormone-secreting pituitary adenomas (TSHomas) are rare, accounting for less than 1% of all pituitary adenomas. We present a case of hyperthyroidism secondary to a likely TSHoma and coexisting functional thyroid adenoma. Laboratory errors and familial abnormalities in thyroid function tests were ruled out, and a diagnosis of the toxic thyroid adenoma was confirmed on a thyroid uptake scan. However, the triiodothyronine suppression test was contraindicated due to the patient’s cardiovascular disease, and the thyrotropin-releasing hormone stimulation test, measurement of glycoprotein hormone alpha-subunit, and genetic testing were unavailable. Magnetic resonance imaging of the brain revealed a suprasellar pituitary macroadenoma measuring 40 mm × 20.3 mm × 17 mm. The patient was initiated on carbimazole; however, thyroid stimulating hormone and thyroxine levels remained elevated. The patient declined trans-sphenoidal surgery and was treated with radioactive iod
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Mashup Score: 0IGF-2-mediated hypoglycemia: a case series and review of the medical therapies for refractory hypoglycemia - 1 month(s) ago
Summary Non-islet cell tumour hypoglycemia (NICTH), typically mediated by insulin-like growth factor 2 (IGF-2), is a rare but highly morbid paraneoplastic syndrome associated with tumours of mesenchymal or epithelial origin. Outside of dextrose administration and dietary modification which provide transient relief of hypoglycemia, resection of the underlying tumour is the only known cure for NICTH. Available medical therapies to manage hypoglycemia include glucocorticoids, recombinant growth hormone, and pasireotide. We report two cases of IGF-2 mediated hypoglycemia. The first was managed surgically to good effect, highlighting the importance of a timely diagnosis to maximise the likelihood of a surgical cure. The second patient had unresectable disease and was managed medically, adding to a growing number of cases supporting the efficacy of glucocorticoids and recombinant growth hormone in NICTH. Learning points Recurrent fasting hypoglycemia in the setting of a malignancy should rai
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Mashup Score: 0Bilateral adrenal hemorrhage and severe anemia in a neonate - 2 month(s) ago
Summary Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention. In rare cases, NAH can present as hemorrhage, shock, or adrenal insufficiency. This case describes a preterm infant born with severe anemia in the setting of bilateral adrenal hemorrhages with resulting adrenal insufficiency. The infant was successfully treated with blood transfusions and steroids. This is a unique presentation of NAH as it was bilateral, presented with severe anemia, and resulted in prolonged adrenal insufficiency. Learning points Consider adrenal hemorrhage for cases of severe anemia at birth. Adrenal insufficiency is a rare complication of adrenal hemorrhage. Adrenal recovery can take months, if not years.
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Mashup Score: 0IGF-2-mediated hypoglycemia: a case series and review of the medical therapies for refractory hypoglycemia - 2 month(s) ago
Summary Non-islet cell tumour hypoglycemia (NICTH), typically mediated by insulin-like growth factor 2 (IGF-2), is a rare but highly morbid paraneoplastic syndrome associated with tumours of mesenchymal or epithelial origin. Outside of dextrose administration and dietary modification which provide transient relief of hypoglycemia, resection of the underlying tumour is the only known cure for NICTH. Available medical therapies to manage hypoglycemia include glucocorticoids, recombinant growth hormone, and pasireotide. We report two cases of IGF-2 mediated hypoglycemia. The first was managed surgically to good effect, highlighting the importance of a timely diagnosis to maximise the likelihood of a surgical cure. The second patient had unresectable disease and was managed medically, adding to a growing number of cases supporting the efficacy of glucocorticoids and recombinant growth hormone in NICTH. Learning points Recurrent fasting hypoglycemia in the setting of a malignancy should rai
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Mashup Score: 2A case of adrenal cortical carcinoma arising from a regularly monitored sub-centimetre adrenal incidentaloma - 3 month(s) ago
Summary Approximately 80% of adrenal incidentalomas are benign, and development into adrenal cortical cancer is extremely rare. This is a major reason behind clinical guidelines recommending surveillance of incidentalomas for a relatively short duration of up to 5 years. Surveillance of lesions less than 1 cm is not routinely recommended. A 70-year-old lady was diagnosed with a non-hyperfunctioning 8 mm right adrenal lesion. She underwent annual biochemical and radiological assessment for 5 years before surveillance was extended to 2-yearly intervals. The lesion was stable in size, and radiological characteristics were consistent with a benign adenoma. Seven years after the initial detection of the adrenal lesion, she developed acute abdominal pain. Imaging revealed a 7 cm right adrenal lesion, which was surgically resected and histologically confirmed to be adrenal cortical cancer. She died 1 year later. Clinical guidelines have moved towards a shortened duration of surveillance of in
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Mashup Score: 0Now recruiting for the role of Senior Editor! - 3 month(s) ago
EDM Case Reports is currently recruiting for the role of Senior Editor to join its distinguished Editorial Board for a three-year term and help shape the future of the journal. Responsibilities and benefits As Senior Editor, you will be responsible for overseeing the peer review of 1–2 case reports submitted to the journal per month. Alongside scientific quality, you will assess manuscripts…
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Mashup Score: 1Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus - 3 month(s) ago
Summary Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months po
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S Chew Sue Mei et al. @CUH_NHS @CUH_Diabetes describe a 23-year-old Caucasian female with #Kabuki syndrome & renal dysplasia who developed young-onset #diabetes #mellitus after a failed renal transplant in childhood and post-transplant diabetes mellitus ➡️ https://t.co/I0Y0gonZfc https://t.co/nhUdn5VRND
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Mashup Score: 3Alerts - 3 month(s) ago
To create a content alert please click “Create Account” and follow the steps to create a free account. Add alerts by going to the current volume page and selecting your alert of choice. Citation alerts, which are generated when articles are cited online, can be set up on the individual article. You can then sign in to the ‘My stuff’ area, to modify your alerts, see your…
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Mashup Score: 0Vasculitis–panniculitis mimicking unresolved diabetic foot ulcer - 3 month(s) ago
Summary Diabetes foot ulcer (DFU) is a common long-term complication of diabetes. Intractable chronic wounds to standard care of diabetic foot raise the question of whether other factors intervene in disease development. We report a case of a 54-year-old male patient who came to Sardjito General Hospital with leg pain and previous history of multiple debridement and amputation for DFU referred from a remote hospital yet no improvement was evident in the surrounding lesion following treatment. Consequently, a histopathological examination was carried out proving the presence of other aetiologic factors, vasculitis and panniculitis existing in the lesion. In this case, we report a rare type of causative factor of foot ulcers among diabetic patients. Vasculitis suspected for polyarteritis nodosa accompanied by panniculitis is considered in this patient. The treatment of choice is corticosteroids or immunosuppressants based on the clinical condition, contrary to usual wound care in DFU. Ba
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Cristian Petolicchio et al. present a challenging diagnosis of resistance to thyroid hormone in a 31-year-old male patient with #COVID19. Explore the case report 👉 https://t.co/Kq7F9B80my https://t.co/3MQu7amJOe