Publication Details > Case Report Type > Insight into disease pathogenesis or mechanism of therapy

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N Mohammadnia Department of Internal Medicine, Northwest Clinics, Alkmaar, the Netherlands

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S Simsek Department of Internal Medicine, Northwest Clinics, Alkmaar, the Netherlands

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F Stam Department of Internal Medicine, Northwest Clinics, Alkmaar, the Netherlands

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Summary

Gynecomastia is a symptom with a potential high disease burden. It has a variety of underlying causes, such as malignant, drug-related or hormonal. The presence of gynecomastia can be explained in thyrotoxicosis due to a concomitant disbalance of sex hormones. Interestingly, it rarely is the presenting symptom of Graves’ disease. A 49-year-old man presented to our outpatient clinic with right-sided gynecomastia. After thorough history taking, more symptoms of thyrotoxicosis were present. Treatment was started with thiamazole and later levothyroxine. Three months after this treatment the gynecomastia and other symptoms resolved completely. A disbalance of sex hormones due to an increased expression of the protein sex hormone-binding globulin (SHBG) caused by thyrotoxicosis could result in gynecomastia. In vitro and in vivo research in mice suggest that the pathophysiology of thyrotoxicosis-associated gynecomastia is due to upregulation of hepatocyte nuclear factor-4α (HNF4A) in liver cells. Subsequent increase of SHBG results in a decrease of free testosterone levels.

Learning points

  • Gynecomastia is a common finding (up to almost 40%) on physical examination in patients with hyperthyroidism.

  • In gynecomastia, thyroid function tests should be examined on initial presentation because of the relative simple treatment.

  • The pathophysiology of thyrotoxicosis-associated gynecomastia is well understood by a sex-hormonal disbalance due to an increased expression of SHBG.

  • Due to the well explainable pathophysiology, reduction of symptoms can be expected after treatment.

  • The underlying mechanism of an increased expression of SHBG is not well understood. However, in vitro and in vivo research in mice suggests that thyrotoxicosis causes an increased expression of HNF4A in liver cells. Thus, upregulating the expression of SHBG.

  • Interestingly, HNF4A is suspected to play an important role in MODY. Future research will clarify the importance of this gene and might open up new insights for therapy.

Open access
Isaac T Bernhardt Department of Paediatrics, University of Auckland, Auckland, New Zealand
Starship Children’s Health, Auckland, New Zealand

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Alistair J Gunn Starship Children’s Health, Auckland, New Zealand
Department of Physiology, University of Auckland, Auckland, New Zealand

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Philippa J Carter Starship Children’s Health, Auckland, New Zealand

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Summary

NSD1 deletions are associated with the Sotos syndrome, a syndrome of overgrowth in childhood without evidence of endocrine disturbance. Duplications involving the NSD1 gene have been reported to be associated with a ‘reverse Sotos syndrome’ phenotype, characterised by short stature, microcephaly, dysmorphic features and developmental delay. A 2-year-old girl with short stature, dysmorphic features and developmental delay was found to have duplication of 5q32.2–5q32.3, which includes the NSD1 gene. Growth hormone stimulation testing was normal. Growth hormone therapy was initiated at 5 years of age due to severe short stature and growth failure, with height 3.35 standard deviations (SDS) below the median. Growth velocity increased markedly, by +4.91 SDS in the first year of treatment. At the time of last follow-up at 9 years and 11 months, she had achieved a height within 1 SDS of the median. This is the first report of growth hormone therapy for the short stature associated with duplication of the NSD1 gene, showing that despite normal pituitary function, exogenous growth hormone can dramatically improve linear growth.

Learning points:

  • Sotos syndrome is a disorder of childhood overgrowth caused by NSD1 deletions.

  • Duplications involving NSD1 cause a ‘reverse Sotos syndrome’ phenotype characterised by short stature and microcephaly.

  • The contrasting phenotypes of NSD1 deletions and duplications suggest a dose effect.

  • Stimulated growth hormone secretion is normal in children with NSD1 deletions and duplications.

  • Growth hormone therapy can be very effective in children with NSD1 duplications, comparable to the response seen in severe growth hormone deficiency.

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Dalal Ali St. Vincent’s University Hospital, Dublin, Ireland

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Patrick Divilly St. Vincent’s University Hospital, Dublin, Ireland

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Ruth Prichard St. Vincent’s University Hospital, Dublin, Ireland

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Dermot O’Toole St. Vincent’s University Hospital, Dublin, Ireland
St. James’s University Hospital, Dublin, Ireland
Trinity College, Dublin, Ireland

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Donal O’Shea St. Vincent’s University Hospital, Dublin, Ireland
University College Dublin, Dublin, Ireland

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Rachel K Crowley St. Vincent’s University Hospital, Dublin, Ireland
University College Dublin, Dublin, Ireland

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Summary

Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited endocrine disorder with a high rate of penetrance. The incidence of MEN1 is 1/30,000 in the general population; however, it is quite rare for a patient to present for medical attention with MEN1 for the first time in pregnancy. Primary hyperparathyroidism (PHPT) is one of the most common features of MEN1. The incidence of PHPT occurring in pregnancy is 1%. Despite advances in the medical, surgical and obstetric care over the years, management of this condition during pregnancy may be challenging. It can be difficult to identify pregnant women with PHPT requiring intervention and to monitor safely. Hypercalcemia can result in significant maternal and fetal adverse outcomes including: miscarriage, intrauterine growth restriction, preterm delivery, neonatal hypocalcaemia, pre-eclampsia and maternal nephrolithiasis. Herein, we present a case study of a lady with a strong family history of MEN1, who was biochemically proven to have PHPT and evidence of Zollinger Ellison Syndrome (ZE) on endoscopy. This patient delayed her assisted pregnancy plans for in vitro fertilization (IVF) until completion of the MEN1 workup; nevertheless, she spontaneously achieved an unplanned pregnancy. As a result, she required intervention with parathyroidectomy in the second trimester of her pregnancy as her calcium level continued to rise. This case study highlights the workup, follow up and management of MEN1 presenting with PHPT and ZE in pregnancy.

Learning points

  • Women of childbearing age who are suspected to have a diagnosis of primary hyperparathyroidism ideally should have genetic testing and avoid pregnancy until definitive plans are in place.

  • Zollinger Ellison syndrome in pregnancy means off-label use of high dose of proton pump inhibitors (PPI). Use of PPI in pregnancy is considered to be safe based on retrospective studies. Omeprazole, however, is FDA class C drug because of lack of large prospective studies or large case series during pregnancy.

  • Calcium supplements in the form of calcium carbonate must be converted to calcium chloride by gastric acid in order to be absorbed, however, patients rendered achlorhydric as a result of PPI use will have impaired absorption of calcium. Therefore, use of calcium citrate might be considered a better option in this case.

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Marcio José Concepción-Zavaleta Division of Endocrinology, Hospital Nacional Guillermo Almenara Irigoyen, Lima, Peru

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Sofía Pilar Ildefonso-Najarro Division of Endocrinology, Hospital Nacional Guillermo Almenara Irigoyen, Lima, Peru

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Esteban Alberto Plasencia-Dueñas Division of Endocrinology, Hospital Nacional Guillermo Almenara Irigoyen, Lima, Peru

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María Alejandra Quispe-Flores Division of Endocrinology, Hospital Nacional Guillermo Almenara Irigoyen, Lima, Peru

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Cristian David Armas-Flórez School of Medicine, Universidad Nacional de Trujillo, Trujillo, Peru

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Laura Esther Luna-Victorio Division of Endocrinology, Hospital Nacional Guillermo Almenara Irigoyen, Lima, Peru

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Summary

Type B insulin resistance syndrome (TBIR) is a rare autoimmune disease caused by antibodies against the insulin receptor. It should be considered in patients with dysglycaemia and severe insulin resistance when other more common causes have been ruled out. We report a case of a 72-year-old male with a 4-year history of type 2 diabetes who presented with hypercatabolism, vitiligo, acanthosis nigricans, and hyperglycaemia resistant to massive doses of insulin (up to 1000 U/day). Detection of anti-insulin receptor antibodies confirmed TBIR. The patient received six pulses of methylprednisolone and daily treatment with cyclophosphamide for 6 months. Response to treatment was evident after the fourth pulse of methylprednisolone, as indicated by weight gain, decreased glycosylated haemoglobin and decreased requirement of exogenous insulin that was later discontinued due to episodes of hypoglycaemia. Remission was eventually achieved and the patient is currently asymptomatic, does not require insulin therapy, has normal glycaemia and is awaiting initiation of maintenance therapy with azathioprine. Thus, TBIR remitted without the use of rituximab. This case highlights the importance of diagnosis and treatment in a timely fashion, as well as the significance of clinical features, available laboratory findings and medication. Large controlled studies are required to standardise a therapeutic protocol, particularly in resource-constrained settings where access to rituximab is limited.

Learning points:

  • Type B insulin resistance syndrome is a rare autoimmune disorder that should be considered in patients with dysglycaemia, severe insulin resistance and a concomitant autoimmune disease.

  • Serological confirmation of antibodies against the insulin receptor is not necessary in all cases due to the high associated mortality without timely treatment.

  • Although there is no standardised immunosuppressive treatment, a protocol containing rituximab, cyclophosphamide and steroids has shown a significant reduction in previously reported mortality rates.

  • The present case, reports successful remission in an atypical patient using cyclophosphamide and methylprednisolone, which is an effective therapy in countries in which rituximab is not covered by health insurance.

  • When there is improvement in the hypercatabolic phase, the insulin dose should be reduced and/or discontinued to prevent hypoglycaemia; a mild postprandial hyperglycaemic state should be acceptable.

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Beryl Stütz Department of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Luzern, Switzerland

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Marta Korbonits Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Karl Kothbauer Department of Neurosurgery, Luzerner Kantonsspital, Luzern, Switzerland

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Werner Müller Department of Otorhinolarnygology, Head and Neck Surgery, Luzerner Kantonsspital, Luzern, Switzerland

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Stefan Fischli Department of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Luzern, Switzerland

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Summary

The coincidence of a pheochromocytoma or paraganglioma and a pituitary adenoma in the same patient is a rare condition. In the last few years SDHx and MAX mutations have been identified and discussed as a potential causal connection in cases of coincidence. We describe a case of a middle-aged female patient which presented with acromegaly, a growth hormone-secreting pituitary adenoma and a symptomatic neck paraganglioma. The patient was cured by surgery from both the pituitary tumour and the paraganglioma and is well after ten years follow-up. Due to the unusual coexistence of two neuroendocrine tumours, further molecular genetic testing was performed which revealed a variant in the TMEM127 gene (c245-10C>G).

Learning points:

  • Pheochromocytoma/paraganglioma and coexisting functioning pituitary adenoma are a very rare condition. An appropriate treatment of each tumour entity with a multi-disciplinary approach and regular follow-up is needed.

  • The possibility of a hereditary disease should be considered and genetic workup is recommended. Genetic testing should focus primarily on the genes with mutations related to pheochromocytomas and paragangliomas.

  • Next-generation sequencing with multi-gene panel testing is the currently suggested strategy.

  • Genes associated with paragangliomas and pituitary adenomas are SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX and MEN1, while case reports with VHL, RET and NF1 may represent coincidences.

  • Variants of uncertain significance may need ongoing vigilance, in case novel data become available of these variants.

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Yuki Fujita Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Daisuke Tanaka Department of Diabetes, Endocrinology and Clinical Nutrition, Graduate School ofMedicine, Kyoto University, Kyoto, Japan

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Hisato Tatsuoka Department of Diabetes, Endocrinology and Clinical Nutrition, Graduate School ofMedicine, Kyoto University, Kyoto, Japan

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Miho Matsubara Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Takanori Hyo Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan

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Yoshiyuki Hamamoto Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Toshiyuki Komiya Center for Nephrology, Kansai Electric Power Hospital, Osaka, Japan
Division of Renal Disease and Blood Purification, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Nobuya Inagaki Department of Diabetes, Endocrinology and Clinical Nutrition, Graduate School ofMedicine, Kyoto University, Kyoto, Japan

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Yutaka Seino Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Yuji Yamazaki Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan

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Summary

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes mellitus characterised by early onset and dominant inheritance. Delayed diagnosis or misdiagnosis as type 1 or type 2 diabetes mellitus is common. Definitive genetic diagnosis is essential for appropriate treatment of patients with MODY. The hepatocyte nuclear factor 1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5), which has distinctive clinical features including renal disease. MODY5 should always be considered by clinicians in patients with early onset diabetes and renal anomalies. We report a case of a 30-year-old Japanese male with early-onset diabetes mellitus, renal anomalies and family history of diabetes that was suggestive of MODY5. Renal histology showed no evidence of diabetic nephropathy. Genetic testing revealed a novel heterozygous splice-site mutation of the HNF1B gene in the family members. It was strongly suggested that the mutation could underlie our patient’s MODY5.

Learning points:

  • Genetic diagnosis of MODY is relevant for appropriate treatment.

  • Dominantly inherited early-onset diabetes mellitus with renal cysts suggests MODY5.

  • Scanning the non-coding regions is important for not missing a mutation in HNF1B.

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Tomomi Nakao First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Ken Takeshima First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Hiroyuki Ariyasu First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Chiaki Kurimoto First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Shinsuke Uraki First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Shuhei Morita First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Yasushi Furukawa First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Hiroshi Iwakura First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Takashi Akamizu First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Summary

Thyroid storm (TS) is a life-threatening condition that may suffer thyrotoxic patients. Therapeutic plasma exchange (TPE) is a rescue approach for TS with acute hepatic failure, but it should be initiated with careful considerations. We present a 55-year-old male patient with untreated Graves’ disease who developed TS. Severe hyperthyroidism and refractory atrial fibrillation with congestive heart failure aggregated to multiple organ failure. The patient was recovered by intensive multimodal therapy, but we had difficulty in introducing TPE treatment considering the risk of exacerbation of congestive heart failure due to plasma volume overload. In addition, serum total bilirubin level was not elevated in the early phase to the level of indication for TPE. The clinical course of this patient instructed delayed elevation of bilirubin until the level of indication for TPE in some patients and also demonstrated the risk of exacerbation of congestive heart failure by TPE.

Learning points:

  • Our patient with thyroid storm could be diagnosed and treated promptly using Japan Thyroid Association guidelines for thyroid storm.

  • Delayed elevation of serum bilirubin levels could make the decision of introducing therapeutic plasma exchange difficult in cases of thyroid storm with acute hepatic failure.

  • The risk of worsening congestive heart failure should be considered carefully when performing therapeutic plasma exchange.

Open access
Tu Vinh Luong The Department of Cellular Pathology, Royal Free London NHS Foundation Trust, London, UK
Neuroendocrine Tumour Unit, ENETS Center of Excellence, Royal Free London NHS Foundation Trust, London, UK

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Zaibun Nisa The Department of Cellular Pathology, Royal Free London NHS Foundation Trust, London, UK

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Jennifer Watkins The Department of Cellular Pathology, Royal Free London NHS Foundation Trust, London, UK
Neuroendocrine Tumour Unit, ENETS Center of Excellence, Royal Free London NHS Foundation Trust, London, UK

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Aimee R Hayes Neuroendocrine Tumour Unit, ENETS Center of Excellence, Royal Free London NHS Foundation Trust, London, UK
Department of Medical Oncology, Royal Free London NHS Foundation Trust, London, UK

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Summary

Colorectal poorly differentiated neuroendocrine carcinomas (NECs) are typically associated with poor outcomes. The mechanisms of their aggressiveness are still being investigated. Microsatellite instability (MSI) has recently been found in colorectal NECs showing aberrant methylation of the MLH1 gene and is associated with improved prognosis. We present a 76-year-old lady with an ascending colon tumour showing features of a pT3 N0 R0, large cell NEC (LCNEC) following right hemicolectomy. The adjacent mucosa showed a sessile serrated lesion (SSL) with low-grade dysplasia. Immunohistochemistry showed loss of expression for MLH1 and PMS2 in both the LCNEC and dysplastic SSL. Molecular analysis indicated the sporadic nature of the MLH1 mismatch repair (MMR) protein-deficient status. Our patient did not receive adjuvant therapy and she is alive and disease-free after 34 months follow-up. This finding, similar to early-stage MMR-deficient colorectal adenocarcinoma, is likely practice-changing and will be critical in guiding the appropriate treatment pathway for these patients. We propose that testing of MMR status become routine for early-stage colorectal NECs.

Learning points:

  • Colorectal poorly differentiated neuroendocrine carcinomas (NECs) are known to be aggressive and typically associated with poor outcomes.

  • A subset of colorectal NECs can display microsatellite instability (MSI) with mismatch repair (MMR) protein-deficient status.

  • MMR-deficient colorectal NECs have been found to have a better prognosis compared with MMR-proficient NECs.

  • MMR status can be detected using immunohistochemistry.

  • Immunohistochemistry for MMR status is routinely performed for colorectal adenocarcinomas.

  • Immunohistochemical expression of MMR protein and MSI analysis should be performed routinely for early-stage colorectal NECs in order to identify a subgroup of MMR-deficient NECs which are associated with a significantly more favourable prognosis.

Open access
Dured Dardari Diabetology Department, Centre Hopitalier Sud Francilien, Corbeil-Essonnes, France
Sorbonne Université, Paris, France

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Alfred Penfornis Diabetology Department, Centre Hopitalier Sud Francilien, Corbeil-Essonnes, France
Paris-Sud Medical School, Paris-Saclay University, Orsay, France

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Agnes Hartemann Diabetology Department, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France
Sorbonne Université, Paris, France

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Summary

We report the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes using retrospective review of case notes. We describe for the first time the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes. Pregnancy may promote the onset and worsening of a number of diabetic complications. A link between pregnancy and the onset of acute Charcot neuroarthropathy is demonstrated for the first time in this report.

Learning points:

  • Patients with already diagnosed sensitive neuropathy can develop an active phase of Charcot neuroarthropathy during pregnancy.

  • The rapid correction of hyperglycaemia may induce an active phase of Charcot neuroarthropathy during pregnancy.

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Mawson Wang Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Catherine Cho Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Callum Gray Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Thora Y Chai Department of Endocrinology, Nepean Blue Mountains Local Health District, Kingswood, New South Wales, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia

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Ruhaida Daud Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Matthew Luttrell Department of Endocrinology, Nepean Blue Mountains Local Health District, Kingswood, New South Wales, Australia

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Summary

We report the case of a 65-year-old female who presented with symptomatic hypercalcaemia (corrected calcium of 4.57 mmol/L) with confusion, myalgias and abdominal discomfort. She had a concomitant metabolic alkalosis (pH 7.46, HCO3 - 40 mmol/L, pCO2 54.6 mmHg). A history of significant Quick-Eze use (a calcium carbonate based antacid) for abdominal discomfort, for 2 weeks prior to presentation, suggested a diagnosis of milk-alkali syndrome (MAS). Further investigations did not demonstrate malignancy or primary hyperparathyroidism. Following management with i.v. fluid rehydration and a single dose of i.v. bisphosphonate, she developed symptomatic hypocalcaemia requiring oral and parenteral calcium replacement. She was discharged from the hospital with stable biochemistry on follow-up. This case demonstrates the importance of a detailed history in the diagnosis of severe hypercalcaemia, with MAS representing the third most common cause of hypercalcaemia. We discuss its pathophysiology and clinical importance, which can often present with severe hypercalcaemia that can respond precipitously to calcium-lowering therapy.

Learning points:

  • Milk-alkali syndrome is an often unrecognised cause for hypercalcaemia, but is the third most common cause of admission for hypercalcaemia.

  • Calcium ingestion leading to MAS can occur at intakes as low as 1.0–1.5 g per day in those with risk factors.

  • Early recognition of this syndrome can avoid the use of calcium-lowering therapy such as bisphosphonates which can precipitate hypocalcaemia.

Open access