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Alexis Elias Malavazos Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy
Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano, Milan, Italy

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Chiara Meregalli Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Fabio Sorrentino Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Andrea Vignati Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Carola Dubini Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Valentina Scravaglieri Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Sara Basilico Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Federico Boniardi Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Pietro Spagnolo Unit of Radiology, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Piergiorgio Malagoli Unit of Dermatology, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Paolo Romanelli Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA

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Francesco Secchi Unit of Radiology, IRCCS Policlinico San Donato, San Donato Milanese, Italy
Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy

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Gianluca Iacobellis Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Miami, Florida, USA

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Summary

Psoriasis is often associated with abdominal obesity and type-2 diabetes (T2D). The inflammatory process in psoriasis can target adipose tissue depots, especially those surrounding the heart and coronary arteries, exposing to an increased risk of cardiovascular diseases. A 50-year-old female patient referred to us for abdominal obesity and T2D, which were not controlled with lifestyle modifications. She had suffered from psoriasis for some years and was treated with guselkumab, without success. Epicardial adipose tissue (EAT) attenuation and pericoronary adipose tissue (PCAT) attenuation for each coronary, defined as mean attenuation expressed in Hounsfield unit (HU), were assessed by routine coronary computed tomography angiography. At baseline, EAT attenuation was −80 HU and PCAT attenuation of the right coronary artery (RCA) was −68 HU, values associated with an increased cardiac mortality risk. Psoriasis area and severity index (PASI) was 12.0, indicating severe psoriasis, while dermatology life quality index (DLQI) was 20, indicating a negative effect on the patient’s life. Semaglutide (starting with 0.25 mg/week for 4 weeks, increased to 0.50 mg/week for 16 weeks, and then to 1 mg/week) was started. After 10 months, semaglutide treatment normalized glycated hemoglobin and induced weight loss, particularly at abdominal level, also followed by a reduction in computed tomography-measured EAT volume. EAT attenuation and PCAT attenuation of RCA decreased, showing an important reduction of 17.5 and 5.9% respectively, compared with baseline. PASI and DLQI decreased by 98.3 and 95% respectively, indicating an improvement in psoriasis skin lesions and an important amelioration of the patient’s quality of life, compared with baseline.

Learning points

  • Psoriasis patients affected by obesity and type-2 diabetes (T2D) are often resistant to biologic therapies.

  • Psoriasis is often associated with abdominal obesity, T2D, and cardiovascular diseases (CVD), given their shared inflammatory properties and pathogenic similarities.

  • Epicardial adipose tissue (EAT) inflammation can cause the distinctive pattern of CVD seen in psoriasis.

  • EAT and pericoronary adipose tissue (PCAT) attenuation, assessed by routine coronary computed tomography angiography (CCTA), can be used as biomarkers of inflammation and allow monitoring of medical anti-inflammatory therapies.

  • The actions of semaglutide to reduce energy intake, improve glycemic control, and produce effective weight loss, particularly at the visceral fat depot level, can diminish adipose tissue dysfunction, reduce EAT attenuation and PCAT attenuation of the right coronary artery (RCA) and concomitantly ameliorate the clinical severity of psoriasis.

  • Semaglutide therapy may be considered in psoriasis patients affected by T2D and abdominal obesity, despite low cardiovascular risk by traditional risk scores, who are resistant to biologic therapies.

Open access
Luca Foppiani Internal Medicine, Galliera Hospital, Genoa, Italy

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Maria Gabriella Poeta Neurology, Galliera Hospital, Genoa, Italy

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Mariangela Rutigliani Department of Pathology, Galliera Hospital, Genoa, Italy

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Simona Parodi Neuroradiology, Galliera Hospital, Genoa, Italy

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Ugo Catrambone Department of Surgery, Galliera Hospital, Genoa, Italy

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Lorenzo Cavalleri Anesthesia and Intensive Care Unit, Galliera Hospital, Genoa, Italy

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Giancarlo Antonucci Internal Medicine, Galliera Hospital, Genoa, Italy

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Patrizia Del Monte Endocrinology, Galliera Hospital, Genoa, Italy

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Arnoldo Piccardo Nuclear Medicine, Galliera Hospital, Genoa, Italy

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Summary

Cushing’s syndrome due to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) by a pheochromocytoma is a challenging condition. A woman with hypertension and an anamnestic report of a ‘non-secreting’ left adrenal mass developed uncontrolled blood pressure (BP), hyperglycaemia and severe hypokalaemia. ACTH-dependent severe hypercortisolism was ascertained in the absence of Cushingoid features, and a psycho-organic syndrome developed. Brain imaging revealed a splenial lesion of the corpus callosum and a pituitary microadenoma. The adrenal mass displayed high uptake on both 18F-FDG PET/CT and 68Ga-DOTATOC PET/CT; urinary metanephrine levels were greatly increased. The combination of antihypertensive drugs, high-dose potassium infusion, insulin and steroidogenesis inhibitor normalized BP, metabolic parameters and cortisol levels; laparoscopic left adrenalectomy under intravenous hydrocortisone infusion was performed. On combined histology and immunohistochemistry, an ACTH-secreting pheochromocytoma was diagnosed. The patient's clinical condition improved and remission of both hypercortisolism and catecholamine hypersecretion ensued. Brain magnetic resonance imaging showed a reduction of the splenial lesion. Off-therapy BP and metabolic parameters remained normal. The patient was discharged on cortisone replacement therapy for post-surgical hypocortisolism. EAS due to pheochromocytoma displays multifaceted clinical features and requires prompt diagnosis and multidisciplinary management in order to overcome the related severe clinical derangements.

Learning points

  • A small but significant number of cases of adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome are caused by ectopic ACTH secretion by neuroendocrine tumours, which is usually associated with severe hypercortisolism causing severe clinical and metabolic derangements.

  • Ectopic ACTH secretion by a pheochromocytoma is exceedingly rare but can be life-threatening, owing to the simultaneous excess of both cortisol and catecholamines.

  • The combination of biochemical and hormonal testing and imaging procedures is mandatory for the diagnosis of ectopic ACTH secretion, and in the presence of an adrenal mass, the possibility of an ACTH-secreting pheochromocytoma should be taken into account.

  • Immediate-acting steroidogenesis inhibitors are required for the treatment of hypercortisolism, and catecholamine excess should also be appropriately managed before surgical removal of the tumour.

  • A multidisciplinary approach is required for the treatment of this challenging entity.

Open access
L Aliberti Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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I Gagliardi Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M Pontrelli Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M C Zatelli Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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M R Ambrosio Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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Summary

Tumour-induced osteomalacia (TIO) is due to an overproduction of fibroblast growth factor 23 (FGF23) by mesenchymal tumours, causing hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable and unresectable or the patient may refuse surgery. In these cases, medical treatment with oral phosphate and calcitriol is mandatory, but it is not fully effective and it is associated with low compliance. Burosumab, a human MAB against FGF23 employed to treat X-linked hypophosphatemia (XLH), has recently been approved for TIO in the USA. Maximum burosumab dose in XLH is 90 mg administered for 2 weeks; there are no data on clinical efficacy and safety of this dose in TIO. We reported the case of a 73 years old male with multiple non-traumatic fractures, low bone mineral density, pain and reduced independence of activities of daily living. Biochemical evaluation showed hypophosphatemia, high alkaline phosphatase (ALP) and C-terminal telopeptide (CTX) and normal albumin-corrected total calcium and parathyroid hormone. Tubular phosphate reabsorption was low (80%), whereas C-terminal tail of FGF23 (cFGF23) was elevated. A 68Ga-DOTATOC PET was performed, identifying a lesion in the first left rib. The patient refused surgery; therefore, burosumab therapy was started. After 18 months of treatment (maximum dose: 60 mg administered for 2 weeks), plasma phosphate normalized and ALP levels improved (138 U/L). Patient clinical symptoms as well as pain severity and fatigue improved. Neither adverse events nor tumour progression was reported during follow-up except for a painless fracture of the second right rib.

Learning points

  • Our case shows efficacy and safety of burosumab treatment administered every 2 weeks in a tumour-induced osteomalacia (TIO) patient.

  • After 18 months of treatment at a maximum dose of 60 mg every 2 weeks, we found plasma phosphate normalization and ALP reduction as well as improvement in clinical symptoms and fatigue.

  • Neither adverse events nor tumour progression was reported during follow-up, except for a painless fracture of the second right rib.

Open access
Simone Antonini Endocrinology, Diabetology and andrology Unit, IRCCS Humanitas Research Hospital, Rozzano (MI), Italy

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Alessandro Brunetti Endocrinology, Diabetology and andrology Unit, IRCCS Humanitas Research Hospital, Rozzano (MI), Italy

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Benedetta Zampetti ASST Grande Ospedale Metropolitano Niguarda, Endocrinology Department, Milan (MI), Italy

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Davide Boeris ASST Grande Ospedale Metropolitano Niguarda, Neurosurgery Department, Milan (MI), Italy

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Andrea Saladino Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Neurosurgery, Milan, (MI) Italy

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Renato Cesare Cozzi ASST Grande Ospedale Metropolitano Niguarda, Endocrinology Department, Milan (MI), Italy

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Summary

Osilodrostat is a novel, orally administered cortisol synthesis inhibitor, approved in 2020 by the European Medicines Agency (EMA) for the treatment of Cushing’s syndrome in adults. A significant amount of the studies currently available in the literature focus on treatment in patients with Cushing’s disease. However, data collected from patients treated with osilodrostat in real-life settings still represents a small entity. For this reason, in this article, we will discuss two real-life cases of patients with Cushing’s disease treated with this drug. The first report is about a 35-year-old woman with an adrenocorticotrophic hormone (ACTH)-secreting adenoma. After non-curative trans-nasal-sphenoidal (TNS) surgery, due to a small remnant of the adenoma, medical therapy with osilodrostat achieved fast and effective biochemical and clinical response. During treatment, progressive increase of ACTH levels and an enlargement of the pituitary remnant were documented, with planned radiosurgical treatment. The second case reports a 32-year-old man diagnosed with Cushing’s disease in 2020, who, after surgery refusal, started osilodrostat at progressively up-titrated doses, according to 24 h urinary free cortisol levels, up to 5 mg twice a day. With osilodrostat, the patient reached biochemical and clinical control of disease until TNS surgery in October 2021, with complete remission. The first post-surgical biochemical assessment was equivocal in spite of a transient clinical hypoadrenalism, reverted after 2 months with the restoration of physiological hypothalamic-pituitary-adrenal axis (HPA) function.

Learning points

  • Osilodrostat is a potent oral drug viable for Cushing’s disease as medical therapy when surgery is not feasible or remission cannot be reached.

  • Osilodrostat proves to be a safe drug and its main adverse effect is hypoadrenalism, due to the adrenolytic action of the compound.

  • Osilodrostat needs a very tailored approach in its clinical use because there is no correlation between the level of hypercortisolism pre-treatment and the dose required to reach disease control.

Open access
N Viola Endocrinology Unit, Department of Clinical and Experimental Medicine

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C Urbani Endocrinology Unit, Department of Clinical and Experimental Medicine

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M Cosottini Neuroradiology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy

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A Abruzzese Neuroradiology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy

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L Manetti Endocrinology Unit, Department of Clinical and Experimental Medicine

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G Cosentino Endocrinology Unit, Department of Clinical and Experimental Medicine

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G Marconcini Endocrinology Unit, Department of Clinical and Experimental Medicine

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C Marcocci Endocrinology Unit, Department of Clinical and Experimental Medicine

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F Bogazzi Endocrinology Unit, Department of Clinical and Experimental Medicine

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I Lupi Endocrinology Unit, Department of Clinical and Experimental Medicine

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Summary

Pituitary apoplexy (PA) is a medical emergency with complex diagnosis and management. In this study, we describe a case of PA in a 63-year-old male treated with oral anticoagulant therapy for atrial fibrillation. In the patient, PA manifested itself with asthenia and severe headache not responsive to common analgesics. Despite the finding of a pituitary mass through CT, and in anticipation of the endocrinological evaluation and pituitary MRI, the patient’s clinical condition worsened with an escalation of headache and asthenia associated with deterioration of the visual field and impairment of consciousness level. The emergency assessments revealed an adrenal failure, whereas MRI showed a haemorrhagic pituitary macroadenoma with compression of the optic chiasm. Intravenous fluids repletion and high-dose hydrocortisone were started with a rapid improvement of the patient’s health and visual field abnormalities. Hydrocortisone was gradually reduced to a replacement dose. During the follow-up, panhypopituitarism was documented, and replacement therapies with l-thyroxine and testosterone were introduced. Three months later, a pituitary MRI showed a 50% reduction in the pituitary adenoma volume.

Learning points

  • Pituitary apoplexy (PA) is a medical emergency that can result in haemodynamic instability and abnormalities in the level of consciousness.

  • The management of PA requires a multidisciplinary team that includes endocrinologists, ophthalmologists, neuro-radiologists, and neuro-surgeons.

  • Pituitary MRI with gadolinium is the diagnostic gold standard for PA.

  • PA therapy aims to improve general conditions and treat compression symptoms, especially visual field abnormalities.

  • Adrenocorticotrophic hormone deficiency is a common and severe complication of PA. Thus, all patients with PA must be promptly treated with injective synthetic glucocorticoids (e.g. hydrocortisone 100 mg) and i.v. saline.

  • PA must be taken into consideration in case of sudden headache in patients with a pituitary macroadenoma, especially if other risk factors are recognized.

Open access
Filippo Crimì Department of Medicine DIMED, University of Padova, Padova, Italy
Institute of Radiology, University of Padova, Padova, Italy

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Giulio Barbiero Institute of Radiology, University of Padova, Padova, Italy

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Irene Tizianel Department of Medicine DIMED, University of Padova, Padova, Italy
Endocrine Disease Unit, University of Padova, Padova, Italy

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Laura Evangelista Department of Medicine DIMED, University of Padova, Padova, Italy
Nuclear Medicine Unit, University-Hospital of Padova, Padova, Italy

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Filippo Ceccato Department of Medicine DIMED, University of Padova, Padova, Italy
Endocrine Disease Unit, University of Padova, Padova, Italy

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Summary

A 61-year-old man went to the Emergency Department with left upper abdominal quadrant pain and low-grade fever, as well as a loss of weight (3 kg in 6 weeks). A solid-cystic lesion in the left adrenal lodge was discovered by abdominal ultrasonography. A slight increase in the serum amylase with normal lipase was observed, but there were no signs or symptoms of pancreatitis. A contrast-enhanced CT revealed a tumor that was suspected of adrenocortical cancer. Therefore, he was referred to the endocrine unit. The hormonal evaluation revealed no signs of excessive or inadequate adrenal secretion. To characterize the mass, an MRI was performed; the lesion showed an inhomogeneous fluid collection with peripheral wall contrast-enhancement, as well as a minor 18-fluorodeoxyglucose uptake at PET/CT images. The risk of primary adrenal cancer was minimal after the multidisciplinary discussion. An acute necrotic collection after focal pancreatitis was suspected, according to the characteristics of imaging. Both CT-guided drainage of the necrotic accumulation and laboratory analysis of the aspirated fluid confirmed the diagnosis.

Learning points

  • Different types of expansive processes can mimic adrenal incidentalomas.

  • Necrotic collection after acute focal pancreatitis could be misdiagnosed as an adrenal mass, since its CT characteristics could be equivocal.

  • MRI has stronger capacities than CT in differentiating complex lesions of the adrenal lodge.

  • A multidisciplinary approach is fundamental in the management of patients with a newly discovered adrenal incidentaloma and equivocal/suspicious imaging features (low lipid content and size >4 cm).

Open access
Salvatore Cannavò Unit of Endocrinology of Department of Human Pathology, University of Messina, Messina, Italy

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Serafinella Patrizia Cannavò Unit of Dermatology of Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

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Summary

Factitious Cushing’s syndrome (CS) is a very rare form of Münchausen syndrome. Its presentation and course are extremely heterogeneous, and diagnosis is generally challenging. We report the case of a 52-year-old woman who was initially investigated because of the occurrence of cushingoid features. Nevertheless, endocrine work-up showed very low morning plasma ACTH and serum cortisol levels. In addition, it also demonstrated central hypopituitarism and hypogonadotropic hypogonadism. Head MRI showed a small pituitary mass. Based on these results, and probably overlooking the initial clinical suspicion, general practitioner (GP) referred the patient to our Endocrine Unit for hypopituitarism. At inspection, moon face, central obesity, and bruising were evident. Multiple ulcerative skin lesions were also concentrated in the right arm and leg. Dermatology evaluation suggested that the lesions were self-provoked. For several days, the patient denied the assumption of corticosteroids, but we finally discovered that the GP’ nurse had prescribed betamethasone without the GP’s knowledge for about 2 years. In conclusion, the surreptitious assumption of corticosteroids is very rare, but the physicians should be aware that pituitary function could be impaired by high doses of corticosteroids, mimicking hypopituitarism. In these patients, a multidisciplinary approach and environmental investigation can be useful to diagnose factitious CS.

Learning points

  • Surreptitious assumption of corticosteroids can cause heterogeneous presentation, ranging from Cushing’s syndrome to multiple hypopituitarism.

  • Suppression of ACTH and cortisol levels in a patient with cushingoid features firstly suggests surreptitious assumption of corticosteroids.

  • A multidisciplinary approach can be extremely useful in patients with suspected factitious Cushing’s syndrome.

  • Sometimes, to prove surreptitious assumption of corticosteroids needs environmental investigation.

Open access
Gabriele Costanzo Endocrine Unit, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

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Salvatore Curatolo Dermatology Unit, Garibaldi Hospital, Catania, Italy

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Barbara Busà Pharmacy Unit, Garibaldi-Nesima Hospital, Catania, Italy

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Antonino Belfiore Endocrine Unit, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

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Damiano Gullo Endocrine Unit, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

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Summary

Semaglutide is a glucagon-like peptide 1 (GLP-1) receptor agonist, approved for the treatment of type 2 diabetes mellitus (T2DM). GLP-1 analogs exert several biological activities connected not only with an insulinotropic effect but also with immunoregulation and reduction of inflammation. A 73-year-old male patient with class III obesity was referred to us for T2DM, which was not controlled with metformin therapy. He had suffered from plaque psoriasis for some years and was treated with topical therapy and adalimumab, without success. The psoriasis area and severity index (PASI) was 33.2 (indicating severe psoriasis), and the dermatology life quality index (DLQI) was 26.0 (indicating an extremely negative effect on the patient's life). Semaglutide (starting with 0.25 mg/week for 4 weeks, increased to 0.50 mg/week for 12 weeks, and then to 1 mg/week) was added to metformin. After 4 months, glycemic parameters had improved, and his body weight decreased. Unexpectedly, skin lesions of plaque psoriasis improved. PASI decreased by 19% compared with baseline and quality of life, assessed with the DLQI, markedly ameliorated. After 10 months, glycemic and obesity parameters, as well as psoriasis, improved further. HbA1c, BMI, and PASI were reduced by 32, 16.3, and 92%, respectively, compared with the baseline. DLQI declined to 0, meaning there was no effect of plaque psoriasis on the patient’s life.

Learning points

  • Psoriasis in patients with type 2 diabetes is often resistant to therapy.

  • We observed an obese patient with type 2 diabetes mellitus who achieved glycemic control and weight loss with the addition of semaglutide to metformin and had a relevant and long-lasting improvement of plaque psoriasis, which was previously resistant to biologic therapy.

  • Therapy with semaglutide may be attempted in eligible patients with difficult to treat plaque psoriasis.

Open access
Simone Pederzoli Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Tiziana Salviato Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy

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Francesco Mattioli Otolaryngology, Head and Neck Surgery Department, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy

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Gianluca Di Massa Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy

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Giulia Brigante Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Summary

We present the case of a 45-year-old Caucasian woman who attended the Endocrinology Unit for a left cervical mass discovered during follow-up for autoimmune chronic thyroiditis. The ultrasound-guided fine-needle aspiration biopsy of the lesion was consistent with a metastasis of follicular thyroid carcinoma. The sonographic neck evaluation revealed no thyroid nodules but three markedly hypoechoic and highly vascularized areas, with irregular margins and hyperechoic spots. In the clinical suspicion of primary thyroid neoplasm, ultrasound-guided fine-needle aspiration biopsy of two of the three areas was performed, but both cytological reports were non-diagnostic, revealing only colloid and blood. Subsequently, the patient underwent surgical removal of the cervical mass, with the intra-operatory consultation with frozen section examination suggesting follicular-like neoplasia. For this reason, thyroidectomy with both central and lateral neck dissection was performed. Surprisingly, the final histologic examination revealed chronic thyroiditis in the thyroid specimen and no evidence of metastasis in the left neck mass. Consequently, the pathological revision of the frozen section assessment led to the final diagnosis of chronic thyroiditis on the lateral ectopic thyroid. This case represents an uncommon example of lateral ectopic thyroid tissue with coexisting normally located thyroid tissue both affected by chronic thyroiditis.

Learning points

  • Ectopic thyroid must be considered in the diagnostic work-up of lateral neck mass.

  • Even if rare, ectopic thyroid tissue can be found lateral to the carotid sheath and with coexisting normally located thyroid tissue.

  • As the orthotopic tissue, lateral ectopic thyroid tissue can be affected by chronic thyroiditis, which may complicate the diagnosis both on ultrasound and cytology.

Open access
Angelika Mohn Department of Pediatrics, University of Chieti, Chieti, Italy

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Nella Polidori Department of Pediatrics, University of Chieti, Chieti, Italy

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Chiara Aiello Department of Neurosciences, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Cristiano Rizzo Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Cosimo Giannini Department of Pediatrics, University of Chieti, Chieti, Italy

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Francesco Chiarelli Department of Pediatrics, University of Chieti, Chieti, Italy

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Marco Cappa Unit of Endocrinology, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Summary

Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired peroxisomal beta-oxidation and accumulation of very long chain fatty acid (VLCFA) in plasma and in all tissues. Although nutritional intervention associated with a various mixture of oil prevents the accumulation of VLCFA, to date no causal treatment is available. Therefore, haematopoietic stem cell transplantation (HSCT) and gene therapy are allowed only for very early stages of cerebral forms diagnosed during childhood.We reported a case series describing five family members affected by X-linked adrenoleukodystrophy caused by a novel mutation of the ABCD1 gene. Particularly, three brothers were affected while the sister and mother carried the mutation of the ABCD1 gene. In this family, the disease was diagnosed at different ages and with different clinical pictures highlighting the wide range of phenotypes related to this novel mutation. In addition, these characteristics stress the relevant role of early diagnosis to properly set a patient-based follow-up.

Learning points

  • We report a novel mutation in the ABCD1 gene documented in a family group associated to an X-ALD possible Addison only phenotype.

  • All patients present just Addison disease but with different phenotypes despite the presence of the same mutations. Further follow-up is necessary to complete discuss the clinical development.

  • The diagnosis of ALD needs to be included in the differential diagnosis in all patients with idiopathic PAI through accurate evaluation of VLCFA concentrations and genetic confirmation testing.

  • Early diagnosis of neurological manifestation is important in order to refer timely to HSCT.

  • Further follow-up of these family members is necessary to characterize the final phenotype associated with this new mutation.

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