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Diagnosis and Treatment > Signs and Symptoms

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Alessandro Rossini Endocrinology and Diabetes Unit, ASST Papa Giovanni XXIII, Bergamo, Italy

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Francesca Perticone Endocrine Unit, Department of Internal Medicine

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Laura Frosio Endocrine Unit, Department of Internal Medicine

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Marco Schiavo Lena Department of Pathology, San Raffaele Hospital, Milan, Italy

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Roberto Lanzi Endocrine Unit, Department of Internal Medicine

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Summary

ACTH-secreting pheochromocytoma is a very rare cause of Cushing’s syndrome, with a high morbidity and mortality risk due to both cortisol and catecholamines excess. We report the case of a 45-year-old female patient with a 3 cm, high-density, left adrenal mass, diagnosed as an ACTH-secreting pheochromocytoma. The biochemical sensitivity of the tumor to somatostatin analogues was tested by a 100 μg s.c. octreotide administration, which led to an ACTH and cortisol reduction of 50 and 25% respectively. In addition to alpha and beta blockers, preoperative approach to laparoscopic adrenalectomy included octreotide, a somatostatin analogue, together with ketoconazole, in order to achieve an adequate pre-surgical control of cortisol release. Histopathological assessment confirmed an ACTH-secreting pheochromocytoma expressing type 2 and 5 somatostatin receptors (SSTR-2 and -5).

Learning points:

  • ACTH-secreting pheochromocytomas represent a rare and severe condition, characterized by high morbidity and mortality risk.

  • Surgical removal of the adrenal mass is the gold standard treatment, but adequate medical therapy is required preoperatively to improve the surgical outcome and to avoid major complications.

  • Somatostatin analogs, in addition to other medications, may represent a useful therapeutic option for the presurgical management of selected patients.

  • In this sense, the octreotide challenge test is a useful tool to predict favorable therapeutic response to the treatment.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, ACTH, Cortisol, Metanephrines, Condition/ Syndrome, Cushing's syndrome, Diabetes mellitus type 2, Phaeochromocytoma, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Italy, Diagnosis and Treatment, Signs and Symptoms, Asthenia, Dehydration, Diabetes mellitus type 2, Hypercortisolaemia, Hyperglycaemia, Hypertension, Hypogonadism, Hypokalaemia, Hypothyroidism, Leukocytosis, Muscle atrophy, Pyrexia, Weight loss, Investigation, ACTH, Adrenaline, Blood pressure, Catecholamines (24-hour urine), Chromogranin A, Cortisol (serum), Cortisol, free (24-hour urine), CRH stimulation, CT scan, Dexamethasone suppression, FT3, FT4, Haematoxylin and eosin staining, Histopathology, IGF1, Immunohistochemistry, Metanephrines (urinary), Neuron-specific enolase, Noradrenaline, Normetanephrine, Octreotide suppression test, TSH, Intervention, Laparoscopic adrenalectomy, Medication, Alpha-blockers, Amlodipine, Atenolol, Beta-blockers, Doxazosin, Glucocorticoids, Hydrocortisone, Insulin, Ketoconazole, Metformin, Octreotide, Pioglitazone, Potassium chloride, Somatostatin analogues, Thiazolidinediones, Related Disciplines, Surgery, Publication Details, Case Report Type, Novel treatment
DOI:
https://doi.org/10.1530/EDM-19-0123
Volume/Issue:
Volume 2019: Issue 1
Open access
S A S Aftab Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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N Reddy Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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N L Owen Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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R Pollitt Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK

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A Harte Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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P G McTernan Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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G Tripathi Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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T M Barber Division of Metabolic and Vascular Health, Clinical Sciences Research Laboratories, Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, University of Warwick, Clifford Bridge Road, Coventry CV2 2DX, UK

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Summary

A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was −2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI.

Learning points

  • OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.

  • Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen).

  • The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.

  • OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene.

  • Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.

Taxonomy:
Clinical Overview, Gland/Organ, Bone, Topic, Bone, Condition/ Syndrome, Eating disorders, Osteogenesis imperfecta, Patient Demographics, Age, Adolescent/young adult, Gender, Female, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Asthenia, Weight loss, Investigation, DEXA scan, Genetic analysis, P1NP, Medication, Alendronate, Bisphosphonates, Related Disciplines, Genetics, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-13-0002
Volume/Issue:
Volume 2013: Issue 1
Open access