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Fahad Al-Juraibah College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Adnan Al Shaikh College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Department of Paediatrics, Endocrine Division, Jeddah, Saudi Arabia

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Afaf Al-Sagheir King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Amir Babiker College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Asma Al Nuaimi Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Ayed Al Enezi Al Jahra Hospital, Al Jahra, Kuwait

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George S Mikhail Al Jahra Hospital, Al Jahra, Kuwait

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Hassan A Mundi Dubai Hospital, Dubai, United Arab Emirates

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Hubert K Penninckx American Hospital, Dubai, United Arab Emirates

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Huda Mustafa Diabetes and Endocrinology Centre, HealthPlus Network, Abu Dhabi, United Arab Emirates

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Majid Al Ameri Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Mohamed Al-Dubayee College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Nadia S Ali Dubai Hospital, Dubai, United Arab Emirates

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Nagla Fawzy Al Jahra Hospital, Al Jahra, Kuwait
Faculty of medicine, Sohag University, Egypt

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Sameer Al Shammari Al Jahra Hospital, Al Jahra, Kuwait

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Tarek Fiad Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Summary

X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients’ medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2–40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients’ quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of −80.80 IU/L and parathyroid hormone (PTH) of −63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment.

Learning points

  • Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms.

  • Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients’ quality of life and adherence to treatment.

  • Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue.

  • There were no significant side effects associated with burosumab therapy.

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Stephanie Patrick Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

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Deirdre James Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

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Summary

Thyroid cancer is one of the most common manifestations of Cowden syndrome, yet the syndrome is rare. The incidence of Cowden syndrome is 1 in 200,000. The diagnosis can be made clinically when patients present with a combination of symptoms such as mucocutaneous lesions with a strong personal or family history of thyroid, breast, endometrial, and colorectal cancer. A high index of suspicion is required to provide a clinical diagnosis utilizing major and minor criteria. Once a clinical diagnosis is made, genetic testing for a PTEN mutation, a tumor suppressor gene, is recommended. Cancer surveillance should be performed for those with positive genetic testing as well as those with negative genetic testing who still meet clinical diagnostic criteria. We present two cases of Cowden syndrome: one case involving an increasing number of thyroid nodules in a patient with known Cowden syndrome and another patient with a strong family history of cancer, personal history of follicular thyroid cancer, and numerous colonic polyps on screening colonoscopy. These cases demonstrate how early diagnosis of Cowden syndrome can help detect early cancer in both the patient and affected relatives.

Learning points

  • Diagnosing Cowden syndrome helps pre-risk stratification for early cancer screening.

  • The diagnosis of Cowden syndrome can be made with a combination of major and minor criteria: any two major criteria with or without a minor criterion; one major and one minor criterion; or three minor criteria.

  • Patients who meet the diagnostic criteria for Cowden syndrome should undergo genetic screening.

Open access
Natalie Below Diabetes Centre, Gartnavel General Hospital, Glasgow, UK
University of Glasgow, Glasgow, UK

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Deborah Morrison Diabetes Centre, Gartnavel General Hospital, Glasgow, UK

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Ruth McGowan West of Scotland Centre for Genomic Medicine, Glasgow, UK

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Gregory C Jones Diabetes Centre, Gartnavel General Hospital, Glasgow, UK

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Summary

A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing was negative and c-peptide level demonstrated significant endogenous insulin secretion, type 1 diabetes was excluded. Given his age and family history, the differential diagnosis included maturity-onset diabetes of the young (MODY), a rare form of diabetes caused by a single-gene variant. A high probability of MODY was calculated and he was subsequently referred for genetic testing. Although a useful tool, the pre-test probability calculator for MODY is only validated in White Europeans. A heterogenous variant of unknown clinical significance of the NEUROD1 gene was detected, leading to gliclazide use with poor response. The patient responded well to metformin. Type 2 diabetes was considered the most likely diagnosis. This case highlights the diagnostic challenges in young patients of Asian ethnicity and the importance of interpreting genetic results of unknown significance within the clinical context. Ethnicity-specific BMI thresholds should be used when classifying patients as overweight or obese.

Learning points

  • Variants of unknown significance detected by genetic sequencing should be interpreted within the context of the patient’s other clinical parameters.

  • It is important to use ethnicity-specific BMI thresholds for obesity.

  • Diagnosis of type 2 diabetes mellitus at younger ages is becoming increasingly common.

  • The pre-test probability calculator for MODY is only validated in White Europeans; although a useful guide, results should be interpreted with caution in patients of other ethnicities.

Open access
Sumeet Arora Department of Pediatrics, Division of Pediatric Endocrinology, Artemis Hospital, Gurgaon, Haryana, India

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Olga Yeliosof Division of Pediatric Endocrinology, Cohen Children’s Northwell Health, Staten Island, New York, USA

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Vivian L Chin Division of Pediatric Endocrinology, SUNY Downstate Health Sciences University, New York, USA

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Summary

Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.

Learning points

  • Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.

  • Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before.

  • Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.

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Osamu Horikawa Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

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Satoshi Ugi Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan
Department of Medicine, Omihachiman Community Medical Center, Omihachiman, Shiga, Japan

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Tomofumi Takayoshi Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

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Yasushi Omura Department of Internal Medicine, Kohka Public Hospital, Kohka, Shiga, Japan

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Maya Yonishi Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

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Daisuke Sato Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

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Yukihiro Fujita Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

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Tomoya Fuke Department of Medicine, Saiseikai Shiga Hospital, Ritto, Shiga, Japan

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Yushi Hirota Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

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Wataru Ogawa Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan

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Hiroshi Maegawa Department of Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan

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Summary

A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother’s diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years.

Learning points

  • Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance.

  • Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed.

  • Clinical courses may differ even if the same genetic mutation is found in a family.

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Micah A Fischer Department of Pediatrics, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

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Ghada A Elmahmudi Department of Holland Regenerative Medicine Program, University of Nebraska Medical Center, Omaha, Nebraska, USA

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Bracha K Goldsweig Division of Pediatric Endocrinology, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

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Salaheddin H Elrokhsi Division of Pediatric Endocrinology, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, Nebraska, USA

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Summary

Multiple research studies address the anti-insulinemic effect of growth hormone (GH). We report a case of a patient with anterior hypopituitarism on GH replacement who later developed type 1 diabetes mellitus (T1DM). Recombinant human growth hormone (rhGH) therapy was discontinued at the time of growth completion. Because of significantly improved glycemic control, this patient was weaned off subcutaneous insulin. He regressed from stage 3 to stage 2 T1DM and remained in this status for at least 2 years and until the writing of this paper. The diagnosis of T1DM was established based on relatively low C-peptide and insulin levels for the degree of hyperglycemia as well as seropositivity of zinc transporter antibody and islet antigen-2 antibody. Additional laboratory data obtained 2 months after discontinuing rhGH revealed improved endogenous insulin secretion. This case report calls attention to the diabetogenic effect of GH therapy in the setting of T1DM. It also demonstrates the possibility of regression from stage 3 T1DM requiring insulin therapy to stage 2 T1DM with asymptomatic dysglycemia after discontinuing rhGH.

Learning points

  • Given the diabetogenic effect of growth hormone, blood glucose levels should be monitored in patients with type 1 diabetes mellitus (T1DM) on insulin therapy and recombinant human growth hormone (rhGH) replacement.

  • Clinicians should closely monitor for risk of hypoglycemia after discontinuing rhGH among T1DM patients who are on insulin treatment.

  • The discontinuation of rhGH in the setting of T1DM may cause regression of symptomatic T1DM to asymptomatic dysglycemia requiring no insulin treatment.

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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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David Lin Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

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Jai Madhok Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

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Jason Bouhenguel Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

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Frederick Mihm Department of Anesthesiology, Perioperative, and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA

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Summary

We describe a case of a 47-year-old patient who presented with severe lactic acidosis, troponinemia, and acute kidney injury after receiving 8 mg of intramuscular dexamethasone for seasonal allergies in the setting of an undiagnosed epinephrine-secreting pheochromocytoma. This case was atypical, however, in that the patient exhibited only mildly elevated noninvasive measured blood pressures. Following a period of alpha-adrenergic blockade, the tumor was resected successfully. Steroid administration can precipitate pheochromocytoma crisis that may present unusually as in our patient with mild hypertension but profound lactic acidosis.

Learning points

  • Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.

  • Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.

  • Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.

  • Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.

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Hessa Boharoon Neuroendocrine Tumour Unit, ENETS Centre of Excellence, London, UK

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Shaunak Navalkissoor Department of Nuclear Medicine, ENETS Centre of Excellence, London, UK

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Tu Vinh Luong Department of Pathology, Royal Free Hospital, London, UK

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Martyn Caplin Neuroendocrine Tumour Unit, ENETS Centre of Excellence, London, UK

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Ashley Grossman Neuroendocrine Tumour Unit, ENETS Centre of Excellence, London, UK

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Summary

Insulinomas are rare pancreatic neuroendocrine neoplasms (NENs) that are typically sporadic and solitary, with the majority being <2 cm in diameter at diagnosis. The median duration of symptoms before diagnosis is variable; however, this is usually in the region of 12–18 months. We report on an insulinoma diagnosed some 25 years following initial symptoms, having by that stage attained a diameter of 4 cm. We present a 50-year-old man who was reported with hypoglycaemic symptoms on his wedding 25 years prior to eventual confirmation of an insulinoma. He had since learned to live with the symptoms by eating frequently to manage his hypoglycaemia. However, over recent months, he reported a substantial deterioration in his symptoms, and indeed, had collapsed on two occasions. He had a fasting glucose of 2.9 mmol/L with grossly inappropriate elevated insulin and C-peptide levels. MRI demonstrated a 4.1 cm lesion at the body of pancreas and an indeterminate 9-mm liver lesion with a negative 68Gallium-DOTATATE PET scan. Accordingly, he was initiated on diazoxide and referred to the surgical team for distal pancreatectomy: histology confirmed a 4.4-cm well-differentiated pancreatic NEN of intermediate grade (NEN G2, Grade 2, 2017 World Health Organization (WHO) pancreatic-NEN classification), with positive immunohistochemistry for insulin. His hypoglycaemia episodes have ceased, and he remains under active surveillance. Our case demonstrates the possibility of dietary control of insulinoma-induced hypoglycaemia, and the likelihood that such a prolonged delay in diagnosis has led to the uncommonly large size of the apparently benign tumour which is usually ‘small and indolent’.

Learning points

  • Most patients with insulinomas have lesions that are 1–2 cm in size, with 96% being less than 3 cm.

  • The mean tumour size of insulinomas found in 3 of the largest reported series was 1.5 cm, with a range of 0.1–7.0 cm.

  • It is not uncommon for patients to have symptoms for several months to years before diagnosis; however, no reported cases had the symptoms such long for 25 years, and the large size of the tumour in this case may reflect the very long history.

Open access