Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Su Ann Tee in
Google Scholar
PubMed
Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK
Search for other papers by Earn Hui Gan in
Google Scholar
PubMed
Search for other papers by Mohamad Zaher Kanaan in
Google Scholar
PubMed
Search for other papers by David Ashley Price in
Google Scholar
PubMed
Search for other papers by Tim Hoare in
Google Scholar
PubMed
Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK
Search for other papers by Simon H S Pearce in
Google Scholar
PubMed
Summary
Primary adrenal insufficiency secondary to syphilis is extremely rare, with only five cases being reported in the literature. We report a case of adrenal insufficiency as a manifestation of Treponema pallidum infection (tertiary syphilis). A 69-year-old, previously fit and well Caucasian male was found to have adrenal insufficiency after being admitted with weight loss, anorexia and postural dizziness resulting in a fall. Biochemical testing showed hyponatraemia, hyperkalaemia, and an inadequate response to Synacthen testing, with a peak cortisol level of 302 nmol/L after administration of 250 µg Synacthen. Abdominal imaging revealed bilateral adrenal hyperplasia with inguinal and retroperitoneal lymphadenopathy. He was started on hydrocortisone replacement; however, it was not until he re-attended ophthalmology with a red eye and visual loss 1 month later, that further work-up revealed the diagnosis of tertiary syphilis. Following a course of penicillin, repeat imaging 5 months later showed resolution of the abnormal radiological appearances. However, adrenal function has not recovered and 3 years following initial presentation, the patient remains on both glucocorticoid and mineralocorticoid replacement. In conclusion, this case highlights the importance of considering syphilis as a potential differential diagnosis in patients presenting with adrenal insufficiency and bilateral adrenal masses, given the recent re-emergence of this condition. The relative ease of treating infectious causes of adrenal lesions makes accurate and timely diagnosis crucial.
Learning points:
-
Infectious causes, including syphilis, should be excluded before considering adrenalectomy or biopsy for any patient presenting with an adrenal mass.
-
It is important to perform a full infection screen including tests for human immunodeficiency virus, other blood-borne viruses and concurrent sexually transmitted diseases in patients presenting with bilateral adrenal hyperplasia with primary adrenal insufficiency.
-
Awareness of syphilis as a potential differential diagnosis is important, as it not only has a wide range of clinical presentations, but its prevalence has been increasing in recent times.
Search for other papers by Pia T Dinesen in
Google Scholar
PubMed
Search for other papers by Jakob Dal in
Google Scholar
PubMed
Search for other papers by Plamena Gabrovska in
Google Scholar
PubMed
Search for other papers by Mette Gaustadnes in
Google Scholar
PubMed
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Search for other papers by Karen Stals in
Google Scholar
PubMed
Search for other papers by Judit Denes in
Google Scholar
PubMed
Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
Search for other papers by Sylvia L Asa in
Google Scholar
PubMed
Search for other papers by Márta Korbonits in
Google Scholar
PubMed
Search for other papers by Jens O L Jørgensen in
Google Scholar
PubMed
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.
