Clinical Overview > Condition/ Syndrome

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Erica A Steen University of California, San Diego, California, USA

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Susan A Phillips University of California, San Diego, California, USA
Rady Children’s Hospital, University of California, San Diego, California, USA

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Summary

A 6.6-year-old female presented to endocrinology with precocious puberty for evaluation and management. Workup was initiated, and a diagnosis of central precocious puberty was confirmed. A decision was made to initiate pubertal blockade using gonadotropin-releasing hormone agonist (GnRHa) therapy with depot leuprolide acetate injections every 3 months. The patient received the first depot leuprolide acetate injection in the right ventrogluteal area. Six hours following the injection, the patient was reported to be inconsolable in pain, which was localized to the right hip site of the earlier injection and associated with a refusal to ambulate. The pain and discomfort continued to progress over the next 24 h despite an alternating regimen of Tylenol and ibuprofen prompting admission to the emergency department. Vital signs demonstrated a low-grade fever and elevated C-reactive protein. An ultrasound of the right hip demonstrated fluid accumulation within the joint. Over the next week, the patient was unable to walk independently and required assistance for activities of daily living. By 2 weeks after the injection, the pain began to remit, and the patient resumed activities of daily living. Following consultation with allergy, a decision was made to continue GnRHa suppressive therapy with an alternative analog (Triptodur). The patient tolerated subsequent treatment without reaction.

Learning points

  • Although gonadotropin-releasing hormone agonists (GnRHa) have a generally good safety profile, there is a history of both local and systemic hypersensitivity reactions associated with their use.

  • Despite the long-acting formulation of depot leuprolide acetate, the systemic reaction in this case appears to be self-limited.

  • Discontinuation of therapy or a change to an alternative formulation of GnRHa analog should be considered based on the need for therapy versus the potential risk of rechallenge.

Open access
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.

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Tejal Patel Division of Endocrinology, Children’s National Hospital, Washington, District of Columbia, USA

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Rachel Longendyke Division of Endocrinology, Children’s National Hospital, Washington, District of Columbia, USA

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Roopa Kanakatti Shankar Division of Endocrinology, Children’s National Hospital, Washington, District of Columbia, USA
Department of Pediatrics, George Washington School of Medicine, Washington, District of Columbia, USA

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Nadia Merchant Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Summary

Iodine nutrition is a growing issue within the USA due to newer trends of non-iodized salts. There are no recent reviews looking at the current state of iodine deficiency-induced hypothyroidism in children in the USA. We performed a retrospective chart review at our tertiary pediatric endocrine clinic; four met the diagnostic criteria for iodine deficiency defined by a low urine iodine level. We further characterized severity of disease, risk factors, goiter, thyroid labs and antibodies. All cases had significant goiter and were diagnosed within the last 2 years. One case had iodine deficiency due to no iodized salt intake along with concurrent diagnosis of developmental delay and multiple food allergies, while others involved the use of non-iodized salts. Two cases had iodine deficiency along with autoimmunity. It is critical to obtain a dietary history for all patients who present with goiter and/or hypothyroidism. There may be a need to consider reevaluating current preventative measures for iodine deficiency, especially for certain vulnerable populations such as children who do not consume iodized salt.

Learning points

  • In recent decades, iodine nutrition has become a growing concern due to changing dietary patterns and food manufacturing practices.

  • A dietary history is crucial to obtain in children presenting with hypothyroidism and goiter, especially in children with restrictive diets due to behavioral concerns, developmental delays, or multiple food allergies.

  • Of the 12 different types of salts commercially available, only table salt contains iodine in an appropriate amount; thus, individuals using specialty salts can develop mild to moderate iodine deficiency-related thyroid disease.

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Emma Towslee Cottage Children’s Medical Center, Santa Barbara, California, USA

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Adrienne Macdonald Cottage Children’s Medical Center, Santa Barbara, California, USA

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Zohreh Shoar Cottage Children’s Medical Center, Santa Barbara, California, USA

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Summary

A previously healthy 17-year-old female presented to the emergency department with complaints of vomiting, shortness of breath, and tachycardia. She was found to have an elevated blood glucose and was admitted for presumed new onset type 1 diabetes mellitus (T1DM). During the admission, she was noted to have frequent episodes of hypoglycemia despite conservative insulin dosing and high urine output with glucosuria, which seemed out of proportion to her glucose levels and fluid status. She also had persistent hyponatremia despite normalization of blood glucose. Further work-up was initiated to investigate alternative or additional diagnoses to explain these atypical findings. Adrenocorticotropic hormone (ACTH) level was elevated, consistent with the diagnosis of Addison’s disease, which led to the subsequent diagnosis of autoimmune polyglandular syndrome type II (APS-2). This is one of the first reports in the literature of concurrent diagnosis of T1DM and Addison’s disease at initial presentation and demonstrates the importance of not anchoring to one diagnosis.

Learning points

  • This case shows the importance of considering multiple diagnoses and investigating atypical signs and symptoms.

  • This case highlights the importance of a thorough history including review of systems.

  • Hyponatremia and recurrent hypoglycemia in a person with type 1 diabetes should raise suspicion for adrenal insufficiency.

  • This case makes us consider the screening for Addison’s disease in a person with new onset type 1 diabetes in addition to autoimmune thyroid disease and celiac disease.

  • People with an autoimmune disease should be monitored for other autoimmune diseases in the future.

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Gaayathri Krishnan Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Nur Hidayah Mohd Makhatar Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Tee Hwee Ching Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Serena Khoo Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Summary

Pituitary tuberculoma is extremely rare and may pose as a diagnostic challenge especially when encountered as an isolated lesion without other systemic manifestation of tuberculosis. A 21-year-old female was admitted for diabetic ketoacidosis. On the third day of admission following the resolution of diabetic ketoacidosis she developed a sudden onset of headache and blurring of vision suggestive of pituitary apoplexy. An urgent MRI brain revealed a large sellar mass with erosion into the sphenoid sinus and intracranial vasculitis. Transphenoidal surgery was done for tumour debulking which allowed histopathological examination of the sellar mass. Immunohistochemical examination of the sellar mass was positive for Gene Xpert MTB/Rif suggesting a tuberculoma. Anti-tuberculous therapy was commenced with full recovery of pituitary hormonal profile seen 7 months post-treatment. In regions with a high incidence of tuberculosis, a tuberculoma should be a considered in a diagnostic evaluation of a sellar lesion.

Learning points

  • In an endemic area of tuberculosis, tuberculoma should be considered as a differential diagnosis when evaluating sellar lesions.

  • Pituitary tuberculoma can present with pituitary apoplexy-like symptoms.

  • Prompt diagnosis and treatment may lead to recovery of pituitary function.

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Maria Flynn Department of Medicine, University of Calgary, Alberta, Canada

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Christopher Noss Department of Anesthesiology, Perioperative, and Pain Medicine, University of Calgary, Alberta, Canada

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Robert Miller Department of Cardiac Sciences, University of Calgary, Alberta, Canada

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Corey Adams Department of Cardiac Sciences, University of Calgary, Alberta, Canada

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Dean Ruether Department of Medicine, University of Calgary, Alberta, Canada

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Denise Chan Department of Radiology, University of Calgary, Alberta, Canada

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Janice Pasieka Department of Surgery, University of Calgary, Alberta, Canada

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Kirstie Lithgow Department of Medicine, University of Calgary, Alberta, Canada

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Summary

Carcinoid heart disease is a rare complication of carcinoid syndrome, resulting in right-sided valvular heart disease and subsequent heart failure due to long-term exposure to vasoactive substances. The management of this condition is complex, often requiring surgical intervention. Current perioperative regimens entail the use of prophylactic somatostatin analogs to prevent carcinoid crisis; however, regimens vary widely among practitioners and evidence supporting their efficacy in this clinical setting is mixed. This case report describes the perioperative management of a 65-year-old man with carcinoid heart disease requiring tricuspid and pulmonary valve replacement surgery. As an adjunct to somatostatin analog therapy, the novel tyrosine hydroxylase inhibitor, telotristat, was initiated preoperatively. This combination resulted in normalization of preoperative urinary 5-HIAA levels. The patient successfully underwent tricuspid and pulmonic valve replacement without evidence of carcinoid crisis. This clinical case is the first published documenting the use of telotristat in the perioperative period in a patient with carcinoid syndrome and carcinoid heart disease and was associated with a good long-term outcome despite the high-risk nature of the case.

Learning points

  • Carcinoid crisis is a life-threatening complication of carcinoid syndrome, resulting in hemodynamic instability, bronchospasm, and arrhythmia.

  • Cardiac surgical patients with carcinoid syndrome present a unique challenge as they are subject to physiologic conditions and medications which can potentiate intraoperative carcinoid crisis.

  • Perioperative management of patients with carcinoid syndrome currently entails the use of prophylactic somatostatin analogs; however, these agents do not prevent carcinoid crisis in all cases.

  • Telotristat, a tryptophan hydroxylase inhibitor, shows promise as an adjunctive therapy to somatostatin analogs to reduce the risk of intraoperative carcinoid crisis.

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Umberto Spennato Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland

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Jennifer Siegwart Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland

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Britta Hartmann Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland

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Elisabeth Julia Fischer Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland

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Cecilia Bracco Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland

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Joel Capraro Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland

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Beat Mueller Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland
Medical Faculty of the University of Basel, Switzerland

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Philipp Schuetz Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland
Medical Faculty of the University of Basel, Switzerland

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Andreas Werner Jehle Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland
Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland

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Tristan Struja Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland
Medical Faculty of the University of Basel, Switzerland

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Summary

Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient’s clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated ‘H’ cases without ‘D’ and ‘R’, GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications.

Learning points

  • There is currently an important increase in genetic and clinical characterization of new orphan diseases and their causative agents.

  • Unbiased re-evaluation for possible genetic disorders is necessary at every consultation.

  • It is essential to recognize the differential diagnosis of idiopathic hypoparathyroidism.

  • The patient’s clinical presentation and family history can be important to establish the correct diagnosis.

  • Physicians should not hesitate to search a patient’s signs and symptoms online.

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Isabelle van Heeswijk Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Antonia Ugur Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Lynsey Havill Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Rebecca Kinton Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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David Hughes Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Summary

Calciphylaxis is a rare disorder characterised by the development of painful necrotic skin lesions. Occlusion of cutaneous arterioles due to ectopic calcification leads to potentially life-threatening widespread skin loss. Most cases occur in patients with chronic renal disease, which leads to dysregulation of calcium and phosphate homeostasis. Only a handful of case reports exist describing calciphylaxis occurring in patients without chronic renal disease but with hypoparathyroidism. We report on a unique case of a 53-year-old man with multiple endocrine neoplasia type 1 syndrome and acquired hypoparathyroidism due to total parathyroidectomy who went on to develop calciphylaxis following cardiac surgery.

Learning points

  • Calciphylaxis most commonly occurs in the context of chronic renal disease but can rarely occur in its absence as a consequence of calcium and phosphate dysregulation.

  • Patients who develop necrotic skin lesions in the presence of hypoparathyroidism require an urgent dermatological opinion.

  • Mortality from calciphylaxis is high, with the majority of deaths occurring secondary to sepsis.

  • Management of calciphylaxis requires a multidisciplinary team approach to manage wound healing, infections and pain.

  • Recovery with full rehabilitation from calciphylaxis can take months to years.

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Jasmine Van de Kerkhof Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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Jacqueline Bijnens Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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Frank De Geeter Department of Nuclear Medicine, General Hospital Sint-Jan, Bruges, Belgium

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Catherine Dick Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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Pascale De Paepe Department of Anatomopathology, General Hospital Sint-Jan, Bruges, Belgium

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Annick Van den Bruel Department of Endocrinology, General Hospital Sint-Jan, Bruges, Belgium

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Summary

Primary hyperparathyroidism most commonly presents with hypercalcaemia. Rarely, parathyroid apoplexy or haemorrhage mimicking a thyroid bleeding cyst is the first presentation of a parathyroid adenoma. A woman presented with a sudden-onset painful ‘goitre’. Ultrasound showed a cystic nodule located posterior to rather than in the right thyroid lobe, suggesting parathyroid adenoma bleeding. Biochemistry showed mild primary hyperparathyroidism. 99mTc-pertechnetate/sestamibi showed no uptake in the nodule, which was interpreted as a cold thyroid nodule. 18F-fluorocholine PET/CT showed uptake in the nodule, suggestive of a parathyroid adenoma. Persistent mild primary hyperparathyroidism complicated by nephrolithiasis and osteopenia favoured parathyroidectomy over a wait-and-see approach. The patient was referred for parathyroidectomy along with right thyroid lobectomy. Pathology showed an adenoma, with an eccentrically located cystic structure filled with red blood cells surrounded by a thickened fibrous capsule. In conclusion, cervical pain/haemorrhage with hypercalcaemia points to the diagnosis of parathyroid apoplexy, mimicking a thyroid bleeding cyst. Workup with ultrasound and, if available, 18F-choline PET/CT allows for timely surgery, minimizing the risk of recurrent and severe bleeding.

Learning points

  • A bleeding cyst may be located posterior to rather than in the thyroid, suggesting a parathyroid haemorrhage.

  • Neck pain and/or haemorrhage along with primary hyperparathyroidism point to parathyroid apoplexy.

  • A two-step presentation has been described, with a first phase of local symptoms to be followed by visible and possibly life-threatening compressing bleeding.

  • Therefore, an expedited workup is needed, allowing for timely surgery.

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Václav Hána Jr 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Tomáš Brutvan 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Adéla Krausová 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Michal Kršek 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Václav Hána 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Summary

Severe Cushing’s syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare but often demands rapid diagnostics and treatment of hypercortisolism with its comorbidities. Pharmacotherapy of hypercortisolism by ketoconazole, metyrapone and osilodrostat is currently available. If unsuccessful or insufficient a bilateral adrenalectomy is an option. We present a 28-year-old female with severe Cushing’s syndrome caused by a bronchial metastatic neuroendocrine tumour (NET). Hypercortisolism was efficiently treated by osilodrostat with block–replace and then titration regimen. A once-daily dose was finally used with normalised cortisol levels. Androgen levels measured by liquid chromatography–mass spectrometry were slightly elevated during the treatment but without any symptoms. A simple once-daily use of osilodrostat with titration regimen led to normalised cortisol levels in a severe Cushing’s syndrome patient with an uncurable bronchial NET. Transient hypocortisolism during treatment appeared but was easily treated by hydrocortisone.

Learning points

  • Cushing’s syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare.

  • Cortisol upregulation is often severe and rapid, though clinical signs are not always fully pronounced.

  • Rapid treatment is a key for preventing and reducing complications such as fractures, thromboembolism, bleeding, hyperglycaemia, and arterial hypertension.

  • The novel potent steroidogenesis inhibitor osilodrostat can be used as first-line treatment for reducing hypercortisolism.

Open access