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Open access

Rishi Raj, Samaneh Hasanzadeh, Mitra Dashtizadeh, Mohammadreza Kalantarhormozi, Katayoun Vahdat, Mohammad Hossein Dabbaghmanesh, Iraj Nabipour, Mohammdreza Ravanbod, Majid Assadi, Basir Hashemi, and Kamyar Asadipooya

– 3581 . ( https://doi.org/10.1210/jc.2016-2052 ) 10 Hautmann AH Hautmann MG Kölbl O Herr W & Fleck M Tumor-induced osteomalacia: an up-to-date review . Current Rheumatology Reports 2015 17 512. ( https://doi.org/10.1007/s11926

Open access

Milena S Pandrc, Stanko Petrović, Vanja Kostovski, Marijana Petrović, and Miloš Zarić

imaging studies (3) . The Japanese revised ‘Clinical Diagnostic Criteria of Autoimmune Pancreatitis’ (2006) contained three items: radiological imaging showing diffuse or segmental narrowing of the main pancreatic duct, and diffuse or segmental

Open access

Ben Wilkinson, Sharifah Faradila Wan Muhamad Hatta, Andrew Garnham, and Harit N Buch

parathyroid hormone venous sampling . Cardiovascular and Interventional Radiology 2017 40 9 – 21 . ( https://doi.org/10.1007/s00270-016-1481-4 ) 10 Ibraheem K Toraih EA Haddad AB Farag M Randolph GW Kandil E Selective parathyroid venous

Open access

Keita Tatsushima, Akira Takeshita, Shuji Fukata, Noriaki Fukuhara, Mitsuo Yamaguchi-Okada, Hiroshi Nishioka, and Yasuhiro Takeuchi

Summary

A 50-year-old woman with thyroid-stimulating hormone (TSH)-producing pituitary adenoma (TSHoma) was diagnosed due to symptoms of thyrotoxicosis. Preoperatively, she showed thyrotoxicosis with the syndrome of inappropriate secretion of TSH (SITSH) and had a 5 cm nodule in her thyroid gland. Octreotide was administered preoperatively, which helped lower her serum TSH level but not her thyroid hormone level. These findings were atypical for a patient with TSHoma. The TSHoma was completely resected, and the TSH level dropped below the sensitivity limit shortly after surgery. Interestingly, however, thyroid hormone levels remained high. A clear clue to the aetiology was provided by consecutive thyroid scintigraphy. Although preoperative thyroid scintigraphy did not show a hot nodule and the mass was thought to be a non-functional thyroid nodule, the nodule was found to be hot in the postoperative phase of TSH suppression. By focusing on the atypical postoperative course of the TSHoma, we were able to conclude that this was a case of TSHoma combined with an autonomously functioning thyroid nodule (AFTN).

Learning points

  • The diagnosis of autonomously functioning thyroid nodules (AFTNs) depends on suppressed serum TSH levels.

  • If thyroid hormones are resistant to somatostatin analogue therapy or surgery for TSHoma, complications of AFTN as well as destructive thyroiditis need to be considered.

  • It is important to revisit the basics when facing diagnostic difficulties and not to give up on understanding the pathology.

Open access

Simon Ryder, Jed Robusto, Thomas Robertson, Hamish Alexander, and Emma L Duncan

Background Pituitary adenomas are common, identified radiologically in 10–20% of individuals. The prevalence of clinically relevant pituitary adenomas is much lower, approximately 0.1% ( 1 ); fewer than half of these are macroadenomas which

Open access

N Viola, C Urbani, M Cosottini, A Abruzzese, L Manetti, G Cosentino, G Marconcini, C Marcocci, F Bogazzi, and I Lupi

× 18 mm characterized by meta-haemoglobin content. The lesion had a latero- and supra-sellar extension causing compression of both cavernous sinuses and the optic chiasm. These radiological findings were suggestive of a haemorrhagic pituitary

Open access

Kushalee Poornima Jayawickreme, Dimuthu T Muthukuda, Chithranga Kariyawasam, Lalitha Piyarisi, and Buddhi A Abeywickrama

Summary

Treatment of insulinoma can be challenging, while surgical resection is considered the first line. When surgery is contraindicated or is refused, minimally invasive procedures such as selective arterial embolization, local ablative techniques including alcohol ablation, radiofrequency ablation and microwave ablation are being used of late. The world’s first microwave ablation of insulinoma was performed in 2015, after which there have been only a handful of reported cases. A 78-year-old female presented with painful swelling of the left lower limb. She was drowsy and was previously misdiagnosed as epilepsy when she had similar episodes since 2 years ago. She had hypoglycaemia with high serum insulin and C-peptide, and mildly high adjusted calcium, serum prolactin. MRI did not show pituitary adenoma. Lower limb venous duplex scan showed left lower limb deep vein thrombosis for which she was treated with anticoagulation. CT of the abdomen showed a tumour measuring 1.8 cm, located in the antero-superior aspect of the body of the pancreas, with the superior surface being abutted by the splenic artery and the inferior surface being 3 mm above the pancreatic duct, suggestive of an insulinoma. Selective transcatheter arterial embolization of the pancreatic tumour was attempted but was abandoned due to multiple small feeding arteries. Microwave ablation of the tumour was performed successfully. Since there was a possibility of the ablation being compromised due to the heat sink at the splenic artery, 2 mL of 99% alcohol was injected into the rim of the tumour near the artery. She was subsequently normoglycaemic. She defaulted follow up for repeat imaging of pancreas and screening for MEN1 syndrome due to the impact of the COVID-19 pandemic. Minimally invasive procedures are preferred over surgery in selected patients with insulinoma, out of which microwave ablation could be preferentially recommended due to its efficacy and minimal complications. We report the first case of MWA performed in combination with AA in successfully treating insulinoma to our knowledge. This is also the first reported case of DVT associated with isolated insulinoma prior to intervention, though it is rarely reported in MEN1 syndrome.

Learning points

  • Novel therapeutic minimally invasive procedures are successful in treating selected cases of insulinoma.

  • Microwave ablation could be recommended preferentially over selective trans-arterial embolization, and radiofrequency ablation in treating insulinoma due to its efficacy and minimal complications.

  • We report the first case of microwave ablation performed in combination with alcohol ablation in successfully treating insulinoma to our knowledge.

Open access

Noor Rafhati Adyani Abdullah, Wong Lok Chin Jason, and Azraai Bahari Nasruddin

change) was noted. The findings were supportive of pachydermoperiostosis. Based on the clinical, radiological and the histopathological features in the absence of GH hypersecretion, a diagnosis of pachydermoperiostosis was made. Figure 7 Radiograph

Open access

Clare E Bonnar, John F Brazil, Julie O Okiro, Louise Giblin, Yvonne Smyth, Paula M O’Shea, and Francis M Finucane

Summary

A 32-year-old Caucasian male presented to the emergency department with a one-day history of acute severe bilateral lower limb weakness, three days after competing in a bodybuilding competition. He consumed large quantities of carbohydrate-rich foods following the competition. His past medical history was significant for anxiety, and family history was non-contributory. Examination was normal except for reduced power and hyporeflexia in both legs, despite his muscular physique. He was noted to have severe hypokalaemia (K+= 1.9 mmol/L). His thyroid function tests were consistent with thyrotoxicosis. He reported taking thyroxine and several other agents to facilitate muscle mass generation before the bodybuilding competition. His presentation was reminiscent of thyrotoxic periodic paralysis, albeit uncommon with Caucasian ethnicity. He also had transient hyperglycaemia at presentation with concomitant hyperinsulinaemia, which could be attributed to the carbohydrate load and may have exacerbated his hypokalaemia through a transcellular shift. Urine toxicology screen subsequently ruled out the use of diuretics but confirmed the presence of a long-acting beta agonist (clenbuterol) which, along with other substances, may have aggravated the hypokalaemia further. After 12 h of i.v. replacement, the potassium level normalised and leg weakness resolved. The patient agreed to stop taking thyroxine and beta agonists and was well during the clinic visit at one month follow-up. This case highlights the potential for thyrotoxicosis factitia to exacerbate hypokalaemia and muscle weakness from other causes in bodybuilders presenting with acute severe weakness, irrespective of ethnicity.

Learning points

  • In patients presenting with muscle weakness and hypokalaemia, early consideration of thyrotoxicosis is essential, even in the absence of a past history of thyroid disease or specific symptoms of thyrotoxicosis, in order to allow prompt initiation of appropriate treatment and to prevent recurrence.

  • Bodybuilders may constitute a uniquely ‘at-risk’ group for thyrotoxic periodic paralysis secondary to thyrotoxicosis factitia, especially where there is concomitant use of beta-adrenergic agonists, even in the absence of diuretic use.

  • Although rare and usually described in patients of Asian or Polynesian ethnicity, this case highlights that thyrotoxic periodic paralysis secondary to thyrotoxicosis factitia can also occur in patients with Caucasian ethnicity.

  • We speculate that consuming large quantities of carbohydrates may induce hyperinsulinaemia, which could theoretically contribute to worse hypokalaemia, though mechanistic studies would be needed to explore this further.

Open access

Motohiro Sekiya, Mikiko Yuhara, Yuki Murayama, Mariko Ohyama Osawa, Rikako Nakajima, Nami Ohuchi, Nako Matsumoto, Daichi Yamazaki, Sayuri Mori, Takaaki Matsuda, Yoko Sugano, Yoshinori Osaki, Hitoshi Iwasaki, Hiroaki Suzuki, and Hitoshi Shimano

Summary

A paired homeodomain transcription factor, PAX6 (paired-box 6), is essential for the development and differentiation of pancreatic endocrine cells as well as ocular cells. Despite the impairment of insulin secretion observed in PAX6-deficient mice, evidence implicating causal association between PAX6 gene mutations and monogenic forms of human diabetes is limited. We herein describe a 33-year-old Japanese woman with congenital aniridia who was referred to our hospital because of her uncontrolled diabetes with elevated hemoglobin A1c (13.1%) and blood glucose (32.5 mmol/L) levels. Our biochemical analysis revealed that her insulin secretory capacity was modestly impaired as represented by decreased 24-h urinary C-peptide levels (38.0 μg/day), primarily explaining her diabetes. Intriguingly, there was a trend toward a reduction in her serum glucagon levels as well. Based on the well-recognized association of PAX6 gene mutations with congenital aniridia, we screened the whole PAX6 coding sequence, leading to an identification of a heterozygous Gln135* mutation. We tested our idea that this mutation may at least in part explain the impaired insulin secretion observed in this patient. In cultured pancreatic β-cells, exogenous expression of the PAX6 Gln135* mutant produced a truncated protein that lacked the transcriptional activity to induce insulin gene expression. Our observation together with preceding reports support the recent attempt to include PAX6 in the growing list of genes causally responsible for monogenic diabetes. In addition, since most cases of congenital aniridia carry PAX6 mutations, we may need to pay more attention to blood glucose levels in these patients.

Learning points

  • PAX6 Gln135* mutation may be causally associated not only with congenital aniridia but also with diabetes.

  • Blood glucose levels may deserve more attention in cases of congenital aniridia with PAX6 mutations.

  • Our case supports the recent attempt to include PAX6 in the list of MODY genes, and Gln135* may be pathogenic.