Diagnosis and Treatment > Medication
Search for other papers by Yasufumi Seki in
Google Scholar
PubMed
Search for other papers by Satoshi Morimoto in
Google Scholar
PubMed
Search for other papers by Naohiro Yoshida in
Google Scholar
PubMed
Search for other papers by Kanako Bokuda in
Google Scholar
PubMed
Search for other papers by Nobukazu Sasaki in
Google Scholar
PubMed
Search for other papers by Midori Yatabe in
Google Scholar
PubMed
Search for other papers by Junichi Yatabe in
Google Scholar
PubMed
Search for other papers by Daisuke Watanabe in
Google Scholar
PubMed
Search for other papers by Satoru Morita in
Google Scholar
PubMed
Search for other papers by Keisuke Hata in
Google Scholar
PubMed
Search for other papers by Tomoko Yamamoto in
Google Scholar
PubMed
Search for other papers by Yoji Nagashima in
Google Scholar
PubMed
Search for other papers by Atsuhiro Ichihara in
Google Scholar
PubMed
Summary
Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of luteinizing hormone (LH) receptor in patients with PA has been reported; however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a 2-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered.
Learning points:
-
The pathogenesis of primary aldosteronism is still unclear.
-
Expression of luteinizing hormone receptor has been reported in aldosterone-producing adenoma.
-
Serum luteinizing hormone, which is increased in patients with Klinefelter’s syndrome, might contribute to the development of primary aldosteronism.
Search for other papers by Alessandro Rossini in
Google Scholar
PubMed
Search for other papers by Francesca Perticone in
Google Scholar
PubMed
Search for other papers by Laura Frosio in
Google Scholar
PubMed
Search for other papers by Marco Schiavo Lena in
Google Scholar
PubMed
Search for other papers by Roberto Lanzi in
Google Scholar
PubMed
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.
Search for other papers by Valeria de Miguel in
Google Scholar
PubMed
Search for other papers by Andrea Paissan in
Google Scholar
PubMed
Search for other papers by Patricio García Marchiñena in
Google Scholar
PubMed
Search for other papers by Alberto Jurado in
Google Scholar
PubMed
Search for other papers by Mariana Isola in
Google Scholar
PubMed
Search for other papers by José Alfie in
Google Scholar
PubMed
Search for other papers by Patricia Fainstein-Day in
Google Scholar
PubMed
Summary
We present the case of a 25-year-old male with a history of neurofibromatosis type 1 and bilateral pheochromocytoma 4 years after kidney transplantation that was successfully treated with simultaneous bilateral posterior retroperitoneoscopic adrenalectomy.
Learning points:
-
Hypertensive patients with NF1 should always be screened for pheochromocytoma.
-
Pheochromocytoma is rarely associated with transplantation, but it must be ruled out in patients with genetic susceptibility.
-
Posterior retroperitoneoscopic adrenalectomy (PRA) allows more direct access to the adrenal glands, especially in patients with previous abdominal surgeries.
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Vasileios Chortis in
Google Scholar
PubMed
Search for other papers by Christine J H May in
Google Scholar
PubMed
Departments of Cellular Pathology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Kassiani Skordilis in
Google Scholar
PubMed
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by John Ayuk in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Wiebke Arlt in
Google Scholar
PubMed
Search for other papers by Rachel K Crowley in
Google Scholar
PubMed
Summary
Context
Adrenal incidentalomas (AI) represent an increasingly common problem in modern endocrine practice. The diagnostic approach to AIs can be challenging and occasionally reveals surprising features. Here we describe two rare cases of complex adrenal lesions consisting of phaeochromocytomas with synchronous metastases from extra-adrenal primaries.
Case descriptions
Patient 1 – a 65-year-old gentleman with a newly diagnosed malignant melanoma was found to harbour an adrenal lesion with suspicious radiographic characteristics. Percutaneous adrenal biopsy was consistent with adrenocortical adenoma. After excision of the skin melanoma and regional lymphatic metastases, he was followed up without imaging. Three years later, he presented with abdominal discomfort and enlargement of his adrenal lesion, associated with high plasma metanephrines. Adrenalectomy revealed a mixed tumour consisting of a large phaeochromocytoma with an embedded melanoma metastasis in its core. Patient 2 – a 63-year-old lady with a history of NF-1-related phaeochromocytoma 20 years ago and previous breast cancer presented with a new adrenal lesion on the contralateral side. Plasma normetanephrine was markedly elevated. Elective adrenalectomy revealed an adrenal tumour consisting of chromaffin cells intermixed with breast carcinoma cells.
Conclusions
Adrenal incidentalomas require careful evaluation to exclude metastatic disease, especially in the context of a history of previous malignancy. Adrenal biopsy provides limited and potentially misleading information. Phaeochromocytomas are highly vascularised tumours that may function as a sieve, extracting and retaining irregularly shaped cancer cells, thereby yielding adrenal masses with intriguing dual pathology.
Learning points:
-
Adrenal incidentalomas require careful evaluation focused on exclusion of underlying hormone excess and malignant pathology.
-
Adrenal biopsy can be misleading and should only be considered in select cases.
-
Phaeochromocytomas harbouring intratumoural metastases from other, extra-adrenal primary malignancies represent rare pathological entities that highlight the complexities that can be presented by adrenal tumours.
