Patient Demographics > Ethnicity > Other

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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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Omayma Elshafie Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Samir Hussein Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Moza Al Kalbani Department of Gynaecology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Aisha Al Hamadani Department of Pathology

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Abir Bou Khalil Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Nicholas Woodhouse Department of Endocrinology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Summary

A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We describe a case of malignant struma ovarii with widespread metastatic dissemination and a good response to surgery and 131I treatment without recurrence after 5 years of follow-up. The Tg remains slightly elevated indicating minimal stable residual disease.

Learning points

  • Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined.

  • Presentation may mimic advanced carcinoma of the ovary.

  • Predominant sites of metastasis are adjacent pelvic structures.

  • Thyroidectomy and 131iodine therapy should be considered. The management should be similar to that of metastatic thyroid cancer.

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Maha Khalil Abass Pediatric Endocrinology Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

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Aisha Al Shamsi Clinical Genetics Department, Tawam Hospital, Al Ain, United Arab Emirates

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Iftikhar Jan Paediatric Surgery Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates
College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates

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Mohammed Suhail Yasin Masalawala Clinical Trial Unit, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

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Asma Deeb Pediatric Endocrinology Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates
College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates

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Summary

The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. Patients with these underlying genetic mutations can have severe diseases with a high morbidity rate and frequent hospitalization. We report an Arab girl who presented with acute pancreatitis at the age of 7 years progressing to recurrent chronic pancreatitis over a few years. She had severe obesity from the age of 4 years and developed type 2 diabetes at the age of 12. She had a normal biliary system anatomy. Genetic analysis showed that she had combined heterozygous mutations in the SPINK1 gene (SPINK1, c.101A>G p.(Asn34Ser) and SPINK1, c.56-37T>C). Her parents were first-degree cousins, but neither had obesity. Mother was detected to have the same mutations. She had type 2 diabetes but never presented with pancreatitis. This case is the first to be reported from the Arab region with these combined mutations leading to recurrent chronic pancreatitis. It illustrates the importance of diagnosing the underlying genetic mutation in the absence of other known causes of pancreatitis. Considering the absence of pancreatitis history in the mother who did not have obesity but harboured the same mutations, we point out that severe obesity might be a triggering factor of pancreatitis in the presence of the mutations in SPINK1 gene in this child. While this is not an assumption from a single patient, we show that not all carriers of this mutation develop the disease even within the same family. Triggering factors like severe obesity might have a role in developing the disease.

Learning points

  • Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed.

  • Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system.

  • Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors.

  • SPINK1 mutations can predispose to an early-onset severe recurrent pancreatitis and acute pancreatitis.

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Siham Hussein Subki Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Raghad Wadea Mohammed Hussain Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Abdulmoein Eid Al-Agha Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Summary

Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family’s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.

Learning points

  • Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates.

  • In such patients, pediatricians should not wait until the neonate develops an adrenal crisis.

  • A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.

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Keerthana Haridas PGY2, Internal Medicine, Icahn School of Medicine, Mount Sinai St Luke’s/West, New York, New York, USA

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Summary

Human T-cell lymphotropic virus-1 (HTLV-1) causes adult T-cell leukemia and lymphoma (ATLL) and is a rare but important cause of hypercalcemia. A 53-year-old male with HTLV-1-associated myelopathy presented with acute on chronic bilateral lower extremity weakness and numbness. Initial blood work revealed hypercalcemia with corrected calcium of 16.2 mg/dL (8.5–11.5) with normal levels of phosphorus and alkaline phosphatase. Workup for hypercalcemia revealed parathyroid hormone (PTH) of 14 pg/mL (10–65), 25 hydroxy vitamin D at 19.6 ng/mL (30–100), 1,25 dihydroxy vitamin D at 6.7 pg/mL (19.9–79.3), thyroid-stimulating hormone of 1.265 μIU/mL (0.5–5), undetectable PTH-related protein (PTHrP) and lactate dehydrogenase of 433 U/L (100–220). The urine calcium creatinine ratio was 0.388. Reverse transcriptase PCR was positive for HTLV-1 and negative for HTLV-2. Peripheral blood flow cytometry and lymph node biopsy confirmed ATLL. He received treatment with fluids, calcitonin and denosumab after which serum calcium levels fell (nadir: 7.7 mg/dL) and then normalized. Humoral hypercalcemia in this setting is mediated by receptor activator of nuclear factor-kappa B ligand (RANKL), PTHrP and other cytokines. PTHrP levels depend on levels of the TAX gene product, cell type and lymphocyte-specific factors. Thus, a low level, like in our patient, does not rule out HTLV-1 infection/ATLL as the cause of hypercalcemia. Hypercalcemia is known to be responsive to monoclonal antibodies against RANKL given the compound’s role in mediating hypercalcemia in these cases.

Learning points

  • Human T-cell lymphotropic virus-1 infection and adult T-cell leukemia and lymphoma are associated with high rates of hypercalcemia and hypercalcemic crises.

  • Hypercalcemia in these cases is mediated by osteoclastic bone resorption carried out by several agents including receptor activator of nuclear factor-kappa B ligand, parathyroid hormone-related protein (PTHrP), macrophage inflammatory protein 1 alpha, interleukins, etc. A normal PTHRrP does not rule out humoral hypercalcemia of malignancy in this setting, as indicated by this case.

  • Hypercalcemia in such settings is highly responsive to monoclonal antibodies against RANKL given the role the ligand plays in resorptive hypercalcemia.

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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.

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Mami Kobayashi Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan
Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan

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Hideaki Yagasaki Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Kei Tamaru Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Yumiko Mitsui Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Takeshi Inukai Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Summary

Prader–Willi syndrome (PWS) is a genetic imprinting disorder that is characterized by obesity, short stature, and hypogonadism. Hypogonadism is characterized by normal luteinizing hormone (LH), high follicle-stimulating hormone (FSH), low testosterone, low inhibin B, and relatively low anti-Müllerian hormone (AMH). Only a few cases of central precocious puberty (CPP) have been reported in PWS, and follow-up for CPP with PWS is not established. Hence, we present a boy with PWS accompanied by CPP. Gonadotropin-releasing hormone analog (GnRHa) therapy was started at 7 years of age, CPP was adequately arrested, and GnRHa therapy was discontinued at 11.3 years of age. Growth hormone (GH) therapy was started at 12 years of age due to inadequate growth. He grew close to his final height, and his testes developed with normal LH, increased FSH, normal testosterone, and reduced AMH corresponding to puberty at 13.5 years of age. The features of 16 patients with PWS with CPP, including our patient, were summarized. Out of seven male patients, five were treated with GnRHa, as well as four out of nine female patients. Out of 16 patients, 6 were assessed with pubertal development over 13 years of age. Pubertal development was considered to be restored in four patients who had GnRHa therapy discontinuation. We should carefully follow-up on pubertal development in CPP. GnRHa therapy is useful for adequate puberty blockage, and pubertal development could be restored with GnRHa therapy discontinuation.

Learning points

  • Pubertal development in Prader–Willi syndrome (PWS) varies from hypogonadism to precocious puberty.

  • Pubertal development assessment based on clinical features and hormone levels is needed in central precocious puberty (CPP) treatment with PWS.

  • Gonadotropin-releasing hormone analog (GnRHa) therapy is useful for CPP with PWS, and pubertal development can be restored with GnRHa therapy discontinuation.

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Najoua Rbiai Department of Diabetology and Endocrinology, Mohammed VI Hospital

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Ikram Mahroug Department of Diabetology and Endocrinology, Mohammed VI Hospital

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Nada Zizi Laboratory of Epidemiology, Clinical Research and Public Health
Department of Dermatology, Mohammed VI Hospital, Faculty of Medicine and Pharmacy, Mohamed Ist University, Oujda, Morocco

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Hanane Latrech Department of Diabetology and Endocrinology, Mohammed VI Hospital
Laboratory of Epidemiology, Clinical Research and Public Health

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Summary

Cushing’s disease or pituitary adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome is considered a rare condition. It is caused by hypersecretion of the ACTH by a pituitary adenoma that ultimately induces endogenous hypercortisolism by stimulating the adrenal glands. It is responsible for significant morbidity and mortality. The clinical signs and symptoms of hypercortisolism are usually common and non-specific including obesity, moon face, hypertension, hirsutism and facial plethora. The association between Cushing’s disease and calcinosis cutis which is defined as dystrophic calcium deposition in the skin and subcutaneous tissues is extremely rare. To the best of our knowledge, it has never been described previously in humans, probably like a symptom or complication of chronic and severe hypercortisolism. In this paper, we report a case of a 30-year-old female diagnosed with Cushing’s disease and presented bilateral leg’s calcinosis cutis complicated with ulceration. The evolution was favorable and the complete cicatrization was obtained 12 months following the suppression of systemic glucocorticoid excess.

Learning points

  • Calcinosis cutis is common in autoimmune connective diseases. However, to our knowledge, it has never been reported in humans with Cushing’s disease.

  • Given the rarity of this association, the diagnostic approach to calcinosis cutis must exclude the other etiologies.

  • Calcinosis cutis is challenging to treat with no gold standard therapy. In our case, the use of the combination of colchicine and bisphosphonates does not significantly improve the patient’s outcomes. In fact, we suppose that without treating the endogenous hypercortisolism, the calcinosis cutis will not resolve.

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J M K de Filette Department of Endocrinology, University Hospital Brussels (VUB), Brussels, Belgium

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Bastiaan Sol Department of Endocrinology, University Hospital Brussels (VUB), Brussels, Belgium

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Gil Awada Department of Medical Oncology, University Hospital Brussels (VUB), Brussels, Belgium

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Corina E Andreescu Department of Endocrinology, University Hospital Brussels (VUB), Brussels, Belgium

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David Unuane Department of Endocrinology, University Hospital Brussels (VUB), Brussels, Belgium

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Sandrine Aspeslagh Department of Medical Oncology, University Hospital Brussels (VUB), Brussels, Belgium

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Jan Poelaert Department of Critical Care Medicine, University Hospital Brussels (VUB), Brussels, Belgium
Department of Anesthesiology and Perioperative Medicine, University Hospital Brussels (VUB), Brussels, Belgium

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Bert Bravenboer Department of Endocrinology, University Hospital Brussels (VUB), Brussels, Belgium

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Summary

The pandemic caused by severe acute respiratory syndrome coronavirus 2 is of an unprecedented magnitude and has made it challenging to properly treat patients with urgent or rare endocrine disorders. Little is known about the risk of coronavirus disease 2019 (COVID-19) in patients with rare endocrine malignancies, such as pituitary carcinoma. We describe the case of a 43-year-old patient with adrenocorticotrophic hormone-secreting pituitary carcinoma who developed a severe COVID-19 infection. He had stabilized Cushing’s disease after multiple lines of treatment and was currently receiving maintenance immunotherapy with nivolumab (240 mg every 2 weeks) and steroidogenesis inhibition with ketoconazole (800 mg daily). On admission, he was urgently intubated for respiratory exhaustion. Supplementation of corticosteroid requirements consisted of high-dose dexamethasone, in analogy with the RECOVERY trial, followed by the reintroduction of ketoconazole under the coverage of a hydrocortisone stress regimen, which was continued at a dose depending on the current level of stress. He had a prolonged and complicated stay at the intensive care unit but was eventually discharged and able to continue his rehabilitation. The case points out that multiple risk factors for severe COVID-19 are present in patients with Cushing’s syndrome. ‘Block-replacement’ therapy with suppression of endogenous steroidogenesis and supplementation of corticosteroid requirements might be preferred in this patient population.

Learning points

  • Comorbidities for severe coronavirus disease 2019 (COVID-19) are frequently present in patients with Cushing’s syndrome.

  • ‘Block-replacement’ with suppression of endogenous steroidogenesis and supplementation of corticosteroid requirements might be preferred to reduce the need for biochemical monitoring and avoid adrenal insufficiency.

  • The optimal corticosteroid dose/choice for COVID-19 is unclear, especially in patients with endogenous glucocorticoid excess.

  • First-line surgery vs initial disease control with steroidogenesis inhibitors for Cushing’s disease should be discussed depending on the current healthcare situation.

Open access
Vincent Amodru Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France
Assistance Publique – Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Marseille, France

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Thierry Brue Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France
Assistance Publique – Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Marseille, France

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Frederic Castinetti Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France
Assistance Publique – Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Marseille, France

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Summary

Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing’s syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia. While initial levels of cortisol were not very high, we could not manage to control hypercortisolism with ketoconazole monotherapy, and could not increase the dose due to side effects. The same result was observed with another steroidogenesis inhibitor, osilodrostat. The patient was finally successfully treated with a well-tolerated synergitic combination of ketoconazole and osilodrostat. We believe this case provides timely and original insights to physicians, who should be aware that this strategy could be considered for any patients with uncontrolled hypercortisolism and delayed or unsuccessful surgery, especially in the context of the COVID-19 pandemic.

Learning points

  • Ketoconazole–osilodrostat combination therapy appears to be a safe, efficient and well-tolerated strategy to supress cortisol levels in Cushing syndrome.

  • Ketoconazole and osilodrostat appear to act in a synergistic manner.

  • This strategy could be considered for any patient with uncontrolled hypercortisolism and delayed or unsuccessful surgery, especially in the context of the COVID-19 pandemic.

  • Considering the current cost of newly-released drugs, such a strategy could lower the financial costs for patients and/or society.

Open access