Patient Demographics > Gender > Male

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Wenxin Zhang Department of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China

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Wenqiong Xu Department of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China

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Summary

Immune checkpoint inhibitors (ICPis) are novel immunotherapy drugs for a variety of cancers. Toripalimab is one of the ICPis that selectively blocks programmed death 1 (PD-1) and has been used for the treatment of malignant cancers in the hospitals of China. But with the widespread use of ICPis, some of the adverse reactions have gradually appeared. One of the most serious side effects is diabetes mellitus which is a relatively rare immune-related adverse event (irAEs) with life-threatening complications. We report a case of diabetes after the administration of toripalimab for the treatment of melanoma in southern China. To our knowledge, this is a rare case of diabetes occurring during toripalimab therapy, there is only one similar case reported in China so far. As China has a high morbidity of malignant cancer, a significant number of patients could be affected by the adverse reactions of using ICPis. Therefore, when ICPis are administrated, it is very important for clinicians to pay attention to one of the serious side effects – diabetes mellitus. Insulin therapy is often necessary after the diagnosis of ICPis-related diabetes, which has been proved as an effective method to prevent diabetic ketoacidosis (DKA) and other life-threatening complications in these patients.

Learning points

  • Toripalimab can cause the diabetes mellitus.

  • ICPis-related diabetes is treated primarily with insulin.

  • Immune checkpoint inhibitors cause diabetes by primarily destroying islet β cells.

  • There is not enough evidence to demonstrate that diabetic autoantibodies are related to diabetes caused by ICPis.

  • In addition to focusing on the efficacy of PD-1 inhibitor therapy, it is also necessary to pay attention to its adverse reactions, such as ICPis-related diabetes mellitus.

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João Felipe Queiroz Universidade de Fortaleza, Av. Washington Soares, Fortaleza, CE, Ceará, Brazil

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Soraya Lopes Sader Universidade de São Paulo, Av. Bandeirantes, Monte Alegre, Ribeirão Preto, SP, Brazil

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Carina Marques Barroso Hospital Infantil Albert Sabin, R. Tertuliano Sales, Fortaleza, CE, Ceará, Brazil

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Guido de Paula Colares Neto Centro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, SP, Brasil

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Summary

We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year of life with average growth velocity and height. He had bone age compatible with chronological age until 13 when he had a bone age advancement and a decrease in the predicted final height thought to be due to initiation of oral isotretinoin, which has been previously reported. Then, anastrozole was initiated and maintained concomitant to the rickets treatment for 2 years with bone age stabilization. He had no adverse effects or worsening of bone health markers. As a result, he maintained his height gain and improved his final height Z score compared with the predicted final height at initiating anastrozole. In conclusion, although AIs was a reasonable strategy to stabilize bone age and minimize height impairment, careful monitoring is mandatory to understand its benefits and effects on XLH patients.

Learning points

  • Although X-linked hypophosphatemic rickets patients have normal puberty, they can be affected by metabolic and environmental factors that may advance their bone age and impair the predicted final height, similar to the general population.

  • Isotretinoin may accelerate skeletal maturation during puberty in an adolescent with X-linked hypophosphatemic rickets.

  • Aromatase inhibitors showed to be a reasonable strategy to stabilize bone age and minimize height impairment in an adolescent with X-linked hypophosphatemic rickets.

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Prishila Fookeerah Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, Australia
School of Medicine, Western Sydney University, Sydney, Australia

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Mark McLean Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, Australia
School of Medicine, Western Sydney University, Sydney, Australia

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Summary

The anatomy of the pituitary fossa is complex. The wall of the fossa can vary, resulting in inconsistencies in the nature and integrity of the sella barrier. Cerebrospinal fluid is generally confined to the subarachnoid space and does not circulate freely in the pituitary fossa. Spontaneous haemorrhage in the fossa typically occurs in the context of pre-existing intrasellar pathology such as a pituitary adenoma. Extravasation of blood into the subarachnoid space can rarely be observed following pituitary apoplexy. We describe the unique occurrence of subarachnoid haemorrhage in a largely empty pituitary fossa after the rupture of a cerebral aneurysm.

Learning points

  • Pituitary apoplexy and subarachnoid haemorrhage (SAH) are both high in the differential diagnosis of sudden onset severe headaches.

  • Haemorrhagic pituitary apoplexy may result in extravasation into the subarachnoid space, resulting in typical SAH symptoms and signs.

  • This is the first reported case of primary SAH resulting in blood pooling in an empty sella arising from previous surgical resection of a large macroadenoma.

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Paula Condé Lamparelli Elias Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Marcelo Volpon Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo

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Giovana de Gobbi Azevedo Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Helio Machado Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo

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Gabriel Henrique Marques Gonçalves Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Antonio Carlos Santos Department of Radiology, Hematology and Oncology, Ribeirão Preto Medical School, University of São Paulo

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Livia M Mermejo Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Margaret de Castro Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Ayrton C Moreira Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Summary

Postoperative (PO) complications after transsphenoidal surgery (TSS) are rare when performed in pituitary referral centers. Partial hypopituitarism is more frequent and somewhat expected. Meningitis, cerebrospinal fluid leaks, and visual deficits are unusual. Cerebrovascular complications, including cerebral vasospasm are rare, usually under-appreciated and not mentioned to the patient prior to the surgery. This is a report of a 51-year-old male with a non-functioning pituitary macroadenoma presenting with partial hypopituitarism and visual field loss. The patient was submitted to an uneventful TSS. On the first PO day, he developed a left palpebral ptosis with unequal pupils and impaired consciousness (12 points on Glasgow Coma Scale). CT scan revealed a perimesencephalic subarachnoid hemorrhage (SAH) grade 1 according to the modified Fisher scale. High-dose dexamethasone (16 mg/day) was initiated and the patient became more alert (Glasgow 14). On the fifth PO day, due to progression of the neurological deficits (left III, IV, and VI cranial nerves palsy, ataxia, dysdiadochokinesia, right dysmetria, and dysarthria), a magnetic resonance angiography was obtained and revealed a recent mesencephalic infarct without evident vasospasm. Nevertheless, nimodipine 60 mg 4/4 h was initiated. No improvement was seen after 3 days of treatment. The patient was discharged and put on rehabilitation, returning to normal gait and balance after 7 months. This, therefore, is a case of an unexpected mesencephalic infarct probably due to vasospasm induced by minor SAH. Although exceptionally rare, informing the patient about this event prior to TSS is important due to its significant neurological impact. More data are needed considering preventive treatment with nimodipine as soon as SAH is detected after TSS and whether it would improve neurological outcomes.

Learning points

  • Whenever neurological deficits arise after transsphenoidal surgery (TSS), systemic infection, meningitis, electrolyte imbalance, and evident hemorrhage must be promptly investigated.

  • Although rare, cerebral vasospasm (CVS) after TSS is associated with high morbidity and high mortality rates.

  • Vigilance for vasospasm is necessary for patients undergoing TSS for pituitary adenoma, especially those with significant suprasellar extension.

  • Informing this event to the patient prior to TSS is essential due to its significant morbidity and mortality.

  • Post-TSS subarachnoid hemorrhage and hemiparesis may be important clues indicating CVS and infarction.

  • There is limited evidence in the literature regarding post-TSS CVS surveillance and treatment strategies which could have an impact on clinical decisions.

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Beryl Lin Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia

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Stephen M Twigg Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Sydney Medical School (Central), University of Sydney, Sydney, NSW, Australia

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Summary

Functional hypogonadotropic hypogonadism is a relatively common condition in middle-aged to elderly men that can significantly impair quality of life. Besides lifestyle optimisation, androgen replacement remains the mainstay of treatment; however, its adverse effects on spermatogenesis and testicular atrophy are undesirable. Clomiphene citrate is a selective oestrogen receptor modulator that acts centrally to increase endogenous testosterone without affecting fertility. Although it has demonstrated effectiveness in shorter-duration studies, its longer-term outcomes are less well-documented. In this study, we report the case of a 42-year-old male with functional hypogonadotropic hypogonadism who sustained an excellent dose-dependent, titratable clinical and biochemical response to clomiphene citrate with no known adverse effects for 7 years to date. This case highlights that clomiphene citrate has potential as a safe and titratable longer-term treatment option, and the need for further randomised control trials in therapy options to normalise androgen status.

Learning points

  • Functional hypogonadotropic hypogonadism is a relatively common, but likely underdiagnosed, condition in middle-aged to older males.

  • Testosterone replacement is the current mainstay of endocrine therapy but can cause sub-fertility and testicular atrophy.

  • Clomiphene citrate is a serum oestrogen receptor modulator that acts centrally to increase endogenous testosterone production without affecting fertility.

  • It has potential as a safe and efficacious longer-term treatment option that can be titrated to increase testosterone and relieve clinical symptoms in a dose-dependent manner.

  • Longitudinal prospective studies as randomised control trials evaluating alternatives to exogenous testosterone are required.

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Erika Sugito Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Akiyo Tanabe Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Koji Maruyama Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Kyoko Nohara Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Naoki Enomoto Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Ryotaro Bouchi Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Mitsuru Ohsugi Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Kohjiro Ueki Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Department of Molecular Diabetic Medicine, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Kazuhiko Yamada Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Hiroshi Kajio Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Summary

A 47-year-old man was diagnosed with a left adrenal incidentaloma at 40 years of age. The tumor had irregular margins and grew from 18 mm to 30 mm in maximum diameter over 7 years. On computed tomography scan, the mass appeared to localize within the tip of the lateral limb of the left adrenal gland, and between the left adrenal gland and the posterior wall of the stomach. The plasma corticotropin and cortisol concentrations and the 24-h urine fractionated metanephrine levels were normal. 123I-metaiodobenzylguanidine scintigraphy showed tumor avidity consistent with a hormonally inactive pheochromocytoma. A laparoscopic left adrenalectomy was performed; however, no tumor was present in the resected specimen. Abdominal computed tomography postoperatively showed that the tumor remained intact and appeared to connect to the posterior wall of the stomach. A laparotomy was performed and the tumor was removed. The tumor was localized to the intraperitoneal space and isolated from the posterior wall of the stomach. The pathological diagnosis was a gastrointestinal stromal tumor. Clinicians need to be aware of the limitations of diagnostic imaging studies in diagnosing non-functioning adrenal incidentalomas, which require a pathological analysis for the final diagnosis. Moreover, clinicians need to provide patients with sufficient informed consent when deciding on treatment strategies.

Learning points

  • Anatomic structures and tumors that develop in neighboring tissues to the adrenal glands may be confused with primary adrenal tumors.

  • 123I- metaiodobenzylguanidine (MIBG) scintigraphy is specific for diagnosing pheochromocytomas and paragangliomas; however, it has been reported that 123I-MIBG may accumulate in neuroendocrine tumors as well as other tumors.

  • Clinicians should recognize the limitations of imaging studies and the uncertainty of an imaging-based preoperative diagnosis.

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Valerie Lai Department of Medicine, University of Alberta, Edmonton, AB, Canada

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Mariam Shahidi Department of Medicine, University of Alberta, Edmonton, AB, Canada
Division of Endocrinology and Metabolism, University of Alberta, Edmonton, AB, Canada

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Alicia Chan Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada

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Shailly Jain-Ghai Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada

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Summary

3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) lyase deficiency is an inborn error of metabolism resulting in a lack of ketogenesis and leucine catabolism. Hallmarks of decompensation include hypoglycemia without ketosis (or hypoketosis), metabolic acidosis, and hyperammonemia. Management includes avoiding fasting and restricting dietary protein and fat. Conversely, type 2 diabetes mellitus (T2DM) requires carbohydrate restriction and/or anti-hyperglycemic agents; thus, managing these co-existing disorders is challenging. A 36-year-old male with HMG-CoA lyase deficiency and T2DM (Hemoglobin A1c (HbA1c): 7.9%) presented with confusion and shock. Blood work revealed metabolic acidosis, hyperammonemia, hyperglycemia, and hypoketosis. The patient was diagnosed with hyperosmolar non-ketotic hyperglycemia and hyperammonemia secondary to HMG-CoA lyase metabolic decompensation requiring intensive care unit admission. Hyperammonemia management was challenging because alternative calories with i.v. dextrose (due to hyperglycemia) and i.v. lipids (due to HMG-CoA lyase deficiency) could not be provided as usual. The patient was started on hemodialysis and i.v. insulin with marked improvement. Once stabilized, metformin and insulin were initiated. T2DM impaired cellular glucose uptake and produced a state similar to hypoglycemia, despite the patient being profoundly hyperglycemic, which led to metabolic decompensation of HMG-CoA lyase deficiency. Managing T2DM and HMG-CoA lyase deficiency warrants special considerations due to the potential for metabolic decompensation with both hyperglycemia and hypoglycemia.

Learning points

  • In a patient with 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) lyase deficiency and type 2 diabetes mellitus (T2DM), management principles include avoiding hypoglycemia to prevent metabolic decompensation, providing insulin for proper glucose utilization, and moderation of carbohydrate intake to prevent consequences of chronic hyperglycemia.

  • The development of insulin resistance in the form of T2DM in HMG-CoA lyase deficiency likely triggered a state similar to hypoglycemia, leading to cellular energy deficiency and subsequently metabolic decompensation.

  • It is important to avoid hypoglycemia in patients with HMG-CoA lyase deficiency and T2DM, as the risk of metabolic decompensation is increased due to the lack of ketogenesis in HMG-CoA lyase deficiency.

  • Selection of antidiabetic agents in this patient population requires careful consideration, and agents that have a higher risk of hypoglycemia should be avoided.

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Melanie Scheive Indiana University School of Medicine, Indianapolis, Indiana, USA

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Neha Patel Indiana University School of Medicine, Indianapolis, Indiana, USA

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Zeb Saeed Indiana University School of Medicine, Indianapolis, Indiana, USA

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Summary

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism triggered by precipitants that increase the activity of the sodium-potassium pump in the skeletal muscle. In our case study, a previously healthy 34-year-old male presented to the emergency department with new onset thyrotoxicosis, secondary to Graves’ disease. Given the severity of his triiodothyronine (T3) thyrotoxicosis, he was admitted and started on a high dose of beta-blocker, thioamides, and intravenous hydrocortisone. On the second day of his hospitalization, he developed acute flaccid paralysis of his lower extremities. Subsequent stroke workup was negative, and his electrolytes revealed severe hypokalemia and hyperglycemia consistent with TPP. He was treated with potassium and had a complete recovery of his paralysis and hypokalemia within hours. The patient has not had any recurrence since this singular episode in the hospital. This case highlights the scenario where the treatment of hyperthyroidism with high-dose corticosteroids to reduce the conversion of thyroxine to T3 inadvertently resulted in TPP. Clinicians should be aware of this potentially rare but serious consequence of using steroids to manage hyperthyroidism.

Learning points

  • High-dose steroids used to treat hyperthyroidism in hospitalized patients may rarely precipitate thyrotoxic periodic paralysis (TPP) by inducing hypokalemia and hyperglycemia.

  • TPP should be included in the differential diagnosis for acute flaccid paralysis in hospitalized patients with hyperthyroidism.

  • Since TPP is associated with trans-cellular shifts in potassium instead of total body potassium depletion, conservative repletion of potassium is recommended to avoid rebound hyperkalemia.

Open access
Bridget Cooper St Vincent’s Hospital, Garvan Institute of Medical Research, University of New South Wales, Australia

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Kenrick Blaker St Vincent’s Hospital, Garvan Institute of Medical Research, University of New South Wales, Australia

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Jerry R Greenfield St Vincent’s Hospital, Garvan Institute of Medical Research, University of New South Wales, Australia

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Summary

We present a case of a 42-year-old man who developed acute onset severe hypertriglyceridaemia within days of commencing olanzapine therapy. Despite having a family history of metabolic syndrome, he had no personal history of hyperlipidaemia and had normal fasting lipids 1 week prior to treatment initiation. His case is consistent with a diagnosis of multifactorial chylomicronaemia syndrome with a possible undiagnosed underlying genetic lipid metabolism disorder. Our case highlights the difficulty in identifying patients at risk of severe hypertriglyceridaemia prior to the commencement of olanzapine.

Learning points

  • Atypical antipsychotic medications, in particular olanzapine and clozapine, are associated with metabolic side effects.

  • Olanzapine can precipitate acute onset severe hypertriglyceridaemia consistent with multifactorial chylomicronaemia syndrome.

  • It is difficult to predict individuals at risk of olanzapine-induced hypertriglyceridaemia.

  • This case demonstrates the importance of metabolic screening prior to the commencement of olanzapine and the possibility of repeating fasting serum lipids soon thereafter.

Open access
L Aliberti Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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I Gagliardi Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M Pontrelli Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M C Zatelli Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M R Ambrosio Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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Summary

Tumour-induced osteomalacia (TIO) is due to an overproduction of fibroblast growth factor 23 (FGF23) by mesenchymal tumours, causing hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable and unresectable or the patient may refuse surgery. In these cases, medical treatment with oral phosphate and calcitriol is mandatory, but it is not fully effective and it is associated with low compliance. Burosumab, a human MAB against FGF23 employed to treat X-linked hypophosphatemia (XLH), has recently been approved for TIO in the USA. Maximum burosumab dose in XLH is 90 mg administered for 2 weeks; there are no data on clinical efficacy and safety of this dose in TIO. We reported the case of a 73 years old male with multiple non-traumatic fractures, low bone mineral density, pain and reduced independence of activities of daily living. Biochemical evaluation showed hypophosphatemia, high alkaline phosphatase (ALP) and C-terminal telopeptide (CTX) and normal albumin-corrected total calcium and parathyroid hormone. Tubular phosphate reabsorption was low (80%), whereas C-terminal tail of FGF23 (cFGF23) was elevated. A 68Ga-DOTATOC PET was performed, identifying a lesion in the first left rib. The patient refused surgery; therefore, burosumab therapy was started. After 18 months of treatment (maximum dose: 60 mg administered for 2 weeks), plasma phosphate normalized and ALP levels improved (138 U/L). Patient clinical symptoms as well as pain severity and fatigue improved. Neither adverse events nor tumour progression was reported during follow-up except for a painless fracture of the second right rib.

Learning points

  • Our case shows efficacy and safety of burosumab treatment administered every 2 weeks in a tumour-induced osteomalacia (TIO) patient.

  • After 18 months of treatment at a maximum dose of 60 mg every 2 weeks, we found plasma phosphate normalization and ALP reduction as well as improvement in clinical symptoms and fatigue.

  • Neither adverse events nor tumour progression was reported during follow-up, except for a painless fracture of the second right rib.

Open access