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Diagnosis and Treatment > Medication

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Wann Jia Loh Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Kesavan Sittampalam Department of Pathology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Suan Cheng Tan Department of Radiology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Manju Chandran Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Summary

Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography–computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy.

Learning points

  • ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68+ CD1a− S100− histiocytes surrounded by fibrosis.

  • The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.

  • Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Bone, Pituitary, Thyroid, Topic, Adrenal, Hormone, FSH, IGF1, LH, Oestradiol (E2), Prolactin, Testosterone, Thyroxine (T4), TSH, Condition/ Syndrome, Empty sella syndrome, Hashimoto’s disease, Hypopituitarism, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Chinese, Country of Treatment, Singapore, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Atrial fibrillation, Crackles, Dyspnoea, Fatigue, Growth hormone deficiency, Gynaecomastia, Heart failure, Hepatomegaly, Hypoadrenalism, Hypogonadism, Libido reduction/loss, Osteosclerosis, Polydipsia, Polyuria, Investigation, Bone biopsy, CT scan, Echocardiogram, FSH, FT4, HDL cholesterol, Holter monitoring, IGF1, LDL cholesterol, LH, MRI, Oestradiol (E2), PET scan, Prolactin, Sex hormone binding globulin, Testosterone, Thyroid antibodies, TSH, Intervention, Cardiac pacemaker, Medication, Glucocorticoids, Interferon, Levothyroxine, Prednisolone, Testosterone, Thyroxine (T4), Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-14-0122
Volume/Issue:
Volume 2015: Issue 1
Open access
Pia T Dinesen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Jakob Dal Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Plamena Gabrovska Department of Endocrinology, Bart's and the London School of Medicine, Queen Mary University of London, London, UK

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Mette Gaustadnes Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Karen Stals Department of Molecular Genetics, Royal Devon and Exeter, Foundation Trust, Exeter, UK

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Judit Denes Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Sylvia L Asa Department of Pathology, University Health Network, Toronto, Ontario, Canada
Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

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Márta Korbonits Department of Endocrinology, Bart's and the London School of Medicine, Queen Mary University of London, London, UK

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Jens O L Jørgensen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Summary

A patient of Cushing's disease (CD) characterized by a large tumor and only subtle symptoms of hormonal hypersecretion was examined. The patient had a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene. A 50-year-old male presenting with headache was diagnosed with a large pituitary tumor by magnetic resonance imaging (MRI). His visual fields were intact and he exhibited no features of CD. Owing to an exuberant response to synacthen, an overnight dexamethasone suppression test was performed revealing inadequate suppression of plasma cortisol (419 nmol/l). Owing to tumor growth and visual field impairment, he underwent transsphenoidal surgery and developed hypocortisolemia. The pathology specimen revealed a sparsely granulated corticotrope adenoma. Postoperative MRI showed a large tumor remnant. The patient developed skin hyperpigmentation and a synacthen test demonstrated high basal and stimulated cortisol levels; an overnight dexamethasone suppression test showed no suppression (791 nmol/l) and elevated plasma ACTH levels (135 ng/l). A transcranial operation was performed followed by radiotherapy. Two months after radiotherapy, he developed secondary adrenocortical failure. Genetic testing revealed an AIP variant of unknown significance (p.R16H) without loss of the normal AIP allele in the tumor. A literature review showed ten CD patients with AIP gene variants, of whom five (including our case) were p.R16H. CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion. The particular AIP gene variant identified in our patient is shared by four other reported cases of CD. Future studies are needed to assess whether the reported AIP gene variant is more than just coincidental.

Learning points

  • CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion.

  • Resolution of both tumor remnant and hormonal hypersecretion may occur within 2 months after postoperative radiotherapy.

  • The particular AIP gene variant identified in our patient is shared by four other reported cases of CD.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Cortisol, Condition/ Syndrome, AIP gene variant, Cushing's disease, Cushing's syndrome, Diabetes insipidus - neurogenic/central, Pituitary adenoma, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, Denmark, Diagnosis and Treatment, Signs and Symptoms, Headache, Hyperpigmentation, Nocturia, Polydipsia, Polyuria, Investigation, ACTH, ACTH stimulation, Cortisol (serum), IGF1, MRI, Intervention, Radiotherapy, Transsphenoidal surgery, Medication, Desmopressin, GH, Glucocorticoids, Hydrocortisone, Levothyroxine, Prednisolone, Somatostatin analogues, Testosterone, Related Disciplines, Genetics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-14-0105
Volume/Issue:
Volume 2015: Issue 1
Open access