Patient Demographics > Age > Adult

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Maxim John Levy Barnett Jefferson Einstein Hospital, Philadelphia, Pennsylvania, USA

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Carlo Casipit Jefferson Einstein Hospital, Philadelphia, Pennsylvania, USA

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Sri Ram Teja Sathi Jefferson Einstein Hospital, Philadelphia, Pennsylvania, USA

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Ana Del Carmen Rivadeneira Rodriguez Jefferson Einstein Hospital, Philadelphia, Pennsylvania, USA

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Summary

Thyroid storm is a clinical diagnosis characterized by life-threatening multisystemic organ involvement in the setting of uncontrolled hyperthyroidism. Current estimates suggest a mortality rate of up to 30%. Treatment often consists of the administration of thionamide medications, iodine solution(s), corticosteroids, and beta-blockers; in extreme circumstances, both plasmapheresis and thyroidectomy are subsequent therapeutic options. Thionamides are typically administered orally, with the intent of preventing further thyroid hormone synthesis; however, in the literature, there are instances whereby oral access cannot be obtained, and alternative routes of administration are required. We present a case of a patient who presented with a thyroid storm due to lack of adherence to methimazole. During admission, he was found to have significant abdominal pain and ultimately a duodenal perforation requiring strict nil-per-os (NPO) status, due to which he was unable to receive oral thionamides. Due to the lack of availability of intravenous formulations of thionamides in the United States, this patient was treated with an enema compound of propylthiouracil for a total of five per rectum (PR) doses. He would later develop hepatocellular injury, requiring discontinuation and eventual transition to oral methimazole. The literature pertaining to alternative-route thionamide administration is scant, and therefore this case report and literature review is written to provide an up-to-date review and further educate all levels of clinicians about this infrequent (but emergent) situation.

Learning points

  • Thyroid storm is a clinical diagnosis for which urgent recognition is required to prevent untoward mortality.

  • Treatment for thyroid storm requires prompt administration of thionamides, iodine, corticosteroids, and beta-blockers. In extreme circumstances, treatment considerations include plasmapheresis and thyroidectomy.

  • Infrequently, patients with a thyroid storm may not be able to tolerate oral medications, for which alternative routes of access are required.

  • Currently, available alternatives include intravenous methimazole (in Europe and Japan), as well as both enema and suppository preparations of propylthiouracil and methimazole.

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Wouter W de Herder Department of Internal Medicine, Sector of Endocrinology, Erasmus MC, Dr. Molewaterplein40, Rotterdam, the Netherlands

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Summary

At the end of the 19th century, an 18-year-old lady gave birth to a well-proportioned, though very small, son. After delivery, the mother developed a full-grown beard, whereas the son always remained of small stature. The mother developed diabetes mellitus and died, aged 59, from a complicated severe cold. The son died at the age of 91 because of chronic kidney disease. The differential diagnosis in the son is isolated growth hormone deficiency. The mother might have suffered luteoma of pregnancy, polycystic ovary syndrome (PCOS), or Sertoli–Leydig cell tumor(s). The two cases are apparently coincidental/not related in pathophysiology.

Learning points

  • Hirsutism occurring directly postpartum can have several causes.

  • Patients with isolated growth hormone deficiency can live a long life without the substitution of growth hormone.

  • Coincidence does not necessarily imply correlation.

  • In the past, patients with endocrine disorders like severe hirsutism or small stature were employed at circuses and fairs to entertain the audience as curiosities.

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M Majumder Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Sydney, Australia

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M L Gild Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Sydney, Australia
Cancer Genetics Laboratory, Kolling Institute of Medical Research, New South Wales, Sydney, Australia
Faculty of Medicine and Health, University of Sydney, New South Wales, Sydney, Australia

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B G Robinson Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Sydney, Australia
Cancer Genetics Laboratory, Kolling Institute of Medical Research, New South Wales, Sydney, Australia
Faculty of Medicine and Health, University of Sydney, New South Wales, Sydney, Australia

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Summary

Pregnancy in the setting of metastatic paraganglioma is challenging, particularly in the context of tyrosine kinase use. We describe a 26-year-old female with a background of metastatic paraganglioma harboring a pathogenic SDHB variant, requiring sunitinib, which was withheld to facilitate the safe conception and delivery of a healthy baby. She required no alpha- or beta-blockade during her pregnancy and exhibited no signs of tumor progression or symptoms throughout this period. Historically, higher rates of fetal and maternal morbidity and mortality have been experienced in the setting of pregnancy. Although limited data exist on the management of metastatic paraganglioma in pregnant patients, this case suggests that careful treatment modifications, such as temporary tyrosine kinase therapy cessation and vigilant monitoring, can result in successful pregnancies without compromising maternal or fetal well-being.

Learning points

  • Paraganglioma in pregnancy has been associated with poor fetal and maternal morbidity and mortality.

  • Many of the treatment modalities for metastatic paraganglioma, including tyrosine kinase inhibitors, can affect fertility or cannot be utilized in pregnancy, necessitating the temporary suspension of these treatments.

  • This case exemplifies that careful clinical and biochemical monitoring during pregnancy is required to avoid maternal and fetal harm while balancing the risk of disease progression off treatment.

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F Stringer Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia

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C Preston Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia
Western Health, Melbourne, Victoria, Australia

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R MacIsaac Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia
Australian Centre for Accelerating Diabetes Innovations, University of Melbourne, Victoria, Australia

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F Inchley Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia

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L Rivera-Woll Endocrinology Melbourne, Victoria, Australia

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S Farrell Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia

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N Sachithanandan Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent’s Hospital Melbourne and the University of Melbourne, Victoria, Australia

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Summary

Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and 57 years old, who were subsequently diagnosed with compound heterozygous likely pathogenic variants in the ABCC8 gene, a known cause of monogenic congenital hyperinsulinism. We discuss the typical presenting features, investigation findings, and treatment strategies for patients with this condition.

Learning Points

  • Congenital hyperinsulinism is a rare cause of hyperinsulinaemic hypoglycaemia diagnosed in adulthood.

  • Clinical presentation is similar to an insulinoma, and imaging modalities may assist in differentiation.

  • There are minimal medical therapies currently available for patients non-responsive to diazoxide (such as those with ABCC8 and KCNJ11 variants).

  • Continuous glucose monitoring can be helpful in giving patients autonomy in managing their disease, as well as relieving anxiety and fear associated with hypoglycaemia.

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Guillaume Pierman Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Yves Vandermeeren Department of Neurology, CHU UCL Namur, Yvoir, Belgium

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Corinne Jonas Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Etienne Delgrange Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Summary

Moyamoya syndrome (MMS) refers to a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches, leading to an increased risk of stroke. While prevalent in Asia, this condition is considerably less common in Western countries, including Europe. The association between MMS and Graves’ disease (GD) has been well documented, primarily in Asian and American populations, notably Latin Americans. In this report, we report the first case of GD with MMS in a Caucasian woman from Western Europe. The precise mechanisms underpinning the correlation between these two conditions remain poorly elucidated but are hypothesized to involve hemodynamic alterations, the toxic effects of anti-thyroid-stimulating hormone receptor antibodies, or a shared genetic predisposition. Our clinical case underscores the significance of thyroid disease screening in suspected MMS cases, as the management of thyroid dysfunction may suffice to improve neurological symptoms.

Learning points

  • The association between Graves’ disease (GD) and Moyamoya syndrome (MMS) can manifest in a Caucasian European patient.

  • Screening for thyroid disease is essential when MMS is suspected, as treating GD might effectively alleviate neurological symptoms.

  • The mechanisms linking GD and MMS remain incompletely understood but may involve hemodynamic shifts, the toxic effect of anti-TSH receptor antibodies, or shared genetic factors.

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M L Cheneler Department of Internal Medicine, Medical City Weatherford, Weatherford, Texas, USA

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K Qureshi Department of Internal Medicine, Medical City Weatherford, Weatherford, Texas, USA

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C Bahrami Department of Internal Medicine, Medical City Weatherford, Weatherford, Texas, USA

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Summary

Hemichorea–hemiballismus (HCHB) syndrome is a syndrome characterized by choreic movements which are irregular, nonrepetitive, and random movements, and ballismus which are spontaneous and violent movements. HCHB syndrome with a metabolic cause is a rare presentation that can be precipitated by uncontrolled diabetes. Presented here is a case of HCHB syndrome with right-sided neuroimaging findings and contralateral chorea due to uncontrolled type 2 diabetes mellitus. This patient was found to be obtunded with a blood glucose of greater than 500 mg/dL by EMS. After the administration of insulin, she was able to answer clarifying questions of noncompliance with her antihyperglycemic medications. She had a computed tomography without contrast of the head which showed hyperdense lesions in the right caudate nucleus and putamen consistent with HCHB syndrome. She was started on treatment for nonketotic hyperglycemia with insulin. As her mentation improved, she was able to cooperate with physical examination, which revealed irregular and violent movements in the left upper and lower extremities. Her hemichorea and hemiballismus improved with strict glycemic control, and she was able to be discharged to a skilled nursing facility for further rehabilitation. She would later have repeated hospitalizations for poor glycemic control, and repeat neuroimaging would reveal the resolution of hyperdensities after 4 months. HCHB syndrome due to uncontrolled diabetes has been termed diabetic striatopathy and is characterized by poor glycemic control, unilateral striatal hyperdensity on CT imaging, and contralateral choreic movements. Diabetic striatopathy remains a poorly understood disease, and the exact pathophysiologic mechanism has not been definitively elucidated.

Learning points

  • Diabetic striatopathy is a relatively new term for metabolic etiology of hemichorea–hemiballismus syndrome and was coined in 2009.

  • The triad for diabetic striatopathy is poor glycemic control, unilateral striatal hyperdensity on CT imaging, and contralateral choreic movements.

  • Multiple etiologies have been suggested for the cause of diabetic striatopathy including petechial hemorrhage, mineral deposition, myelin destruction, and infarction with reactive astrocytosis; however, the exact mechanism has yet to be determined.

  • Antidopaminergic medications may be used to control the choreic movements of diabetic striatopathy; however, the mainstay of treatment is glycemic control, often with insulin therapy.

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Cristian Petolicchio Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Sara Brasili Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Stefano Gay Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Francesco Cocchiara Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Irene Campi Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Luca Persani Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Lara Vera Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Diego Ferone Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Federico Gatto Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Summary

The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history. The family history was unknown as the patient was adopted. Thyroid-specific antibodies were undetectable, and thyroid ultrasound revealed a normal thyroid gland without nodules. After the resolution of SARS-CoV-2 infection, the diagnostic workup continued, and the pituitary MRI revealed a small area ascribable to a microadenoma. Due to atrial fibrillation, the execution of the T3 test was contraindicated. The octreotide long-acting release (LAR) test showed an initial reduction of free thyroid hormones levels at first administration, which was consistent with the presence of a TSH-secreting pituitary tumour, although an escape from the response was observed after the following two injections of octreotide LAR. Indeed, the genetic investigation revealed a variant in heterozygosity of the THRβ gene (Pro453Ser), thus leading to an RTHβ diagnosis, and, therefore, medical treatment with triiodothyroacetic acid was initiated. After 2 years from the SARS-CoV-2 infection, the patient continues the follow-up at our outpatient clinic, and no other medical interventions are needed.

Learning points

  • RTHβ is a rare genetic syndrome characterised by discrepant thyroid function tests and by a dissociation between the observed hormone levels and the expected patient signs and symptoms.

  • Features of thyroid hormone deficiency in TR-ß dependent tissues (pituitary gland, hypothalamus, liver and neurosensitive epithelia), as well as thyroid hormone excess in TR-α-dependent tissues (heart, bone, skeletal muscle and brain), may coexist in the same individual.

  • Clinical pictures can be different even when the same variant occurs, suggesting that other genetic and/or epigenetic factors may play a role in determining the patient’s phenotype.

  • Differentiating RTHβ from a TSH-secreting pituitary tumour is very difficult, especially when a concomitant pituitary adenoma is detected during diagnostic workup. The injection of long-acting somatostatin analogues can help differentiate the two conditions, but it is important to detect any interference in the dosage of thyroid hormones to avoid an incorrect diagnosis.

  • Genetic testing is fundamental to prevent unnecessary and potentially harmful therapies.

  • Medical treatment with triiodothyroacetic acid was demonstrated to be effective in reducing thyroid hormone excess and controlling symptoms.

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Ewa Stogowska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Bialystok, Poland

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Agnieszka Łebkowska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Bialystok, Poland

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Maria Kościuszko Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Bialystok, Poland

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Grzegorz Zieliński Department of Neurosurgery, Military Institute of Medicine, Warsaw, Poland

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Irina Kowalska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Bialystok, Poland

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Monika Karczewska-Kupczewska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Bialystok, Poland

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Summary

We report a case of a 59-year-old woman with Cushing’s disease who developed hyperthyroidism following treatment of hypercortisolaemia. The patient with a history of recurrent hospitalisations caused by multi-sited soft tissue abscesses was admitted with sepsis. Both her medical history and physical examination suggested Cushing’s syndrome. The initial hormonal diagnostic process, conducted after sepsis treatment, brought forth conflicting results. However, hormonal assessment repeated 3 months later indicated pituitary hypercortisolaemia, which was confirmed through bilateral inferior petrosal sinus sampling and was successfully treated with transsphenoidal pituitary surgery. Three months after the surgery, the patient was readmitted to our epartment with symptoms of hyperthyroidism, which was confirmed by laboratory tests. Thyroid scintiscans indicated Graves’ disease. However, the absence of anti-thyroid stimulating hormone antibodies suggested other etiologies of hyperthyroidism. Eventually, the patient underwent radioiodine therapy. Currently, her condition is improving and she has had no recurrence of abscesses, severe infections, or hyperthyroidism. In conclusion, while clinical manifestation of hypercortisolaemia might be non-specific, its treatment may trigger the development of autoimmune diseases.

Learning points

  • The presence of recurrent severe infections should prompt physicians to consider the possibility of hypercortisolaemia.

  • Chronic hypercortisolism is debilitating and can lead to significant disability.

  • Dexamethasone suppression testing in patients with active or recent severe inflammatory or infectious illnesses may produce misleading or confusing results.

  • Clinicians should be aware of the potential development of autoimmune diseases following successful treatment of hypercortisolaemia.

Open access
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.

Open access
Katherine Wu Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Shejil Kumar Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Ed Hsiao Department of Radiology, Royal North Shore Hospital, Sydney, Australia

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Ian Kerridge Department of Haematology, Royal North Shore Hospital, Sydney, Australia

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Min Ru Qiu Department of Anatomical Pathology, SydPath, St Vincent’s Hospital, Sydney, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, Australia

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Rhonda Siddall Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Roderick Clifton-Bligh Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Anthony J Gill Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia
Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Sydney, Australia

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Matti L Gild Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Summary

RET mutations are implicated in 60% of medullary thyroid cancer (MTC) cases. The RET-selective tyrosine kinase inhibitor selpercatinib is associated with unprecedented efficacy compared to previous multi-kinase treatments. Langerhans cell histiocytosis (LCH) is a clonal histiocytic neoplasm usually driven by somatic BRAF mutations, resulting in dysregulated MAPK signalling. We describe a 22-year-old woman with metastatic MTC to regional lymph nodes, lung and liver. Tumour tissue harboured a somatic pathogenic RET variant p.(M918T) and selpercatinib was commenced. She experienced sustained clinical, biochemical and radiological responses. Two years later, she developed rapidly progressive apical lung nodules, prompting biopsy. Histopathology demonstrated LCH with a rare BRAF variant p.(V600_K601>D). The lung nodules improved with inhaled corticosteroids. We hypothesize that selective pressure from RET blockade may have activated a downstream somatic BRAF mutation, resulting in pulmonary LCH. We recommend continued vigilance for neoplasms driven by dysregulated downstream MAPK signalling in patients undergoing selective RET inhibition.

Learning points

  • Patients with RET-altered MTC can experience rapid disease improvement and sustained disease stability with selective RET blockade (selpercatinib).

  • LCH is a clonal neoplasm driven by MAPK activation, for which the most common mechanism is BRAF mutation.

  • Both MTC and pulmonary LCH are driven by dysregulated MAPK signalling pathway activation.

  • We hypothesise that the RET-specific inhibitor selpercatinib may have caused the activation of dormant LCH secondary to selective pressure and clonal proliferation.

Open access