Acromegaly, primary hyperparathyroidism and renal cell carcinoma

C. Nogueira; E. Vinha; J. Mesquita; S. Belo; J. Capela; J. Pereira; H. Coutinho; L. Castro; C. Souto-Moura; A. Resende; I. Bernardes; D. Carvalho

Introduction: Acromegaly is a rare disorder and sporadic cases are the most frequent. It can also occur in association with genetic syndromes, such as Carney complex, multiple endocrine neoplasia type 1 (MEN-1), MEN-1 like syndrome, isolated familial acromegaly and familial isolated pituitary adenomas.

Case report: Thirty five -year-old man was observed in 1994 for gynecomastia. Acromegaly was diagnosed based on clinical, biochemical (IGF1 1094.7 ng/ml, baseline GH 48.0 ng/ml) and imaging criteria. He was submitted to complete transsphenoidal resection of a macroadenoma in 7/6/1995 (staining for GH and prolactin) and reached surgical cure. In 2001 primary hyperparathyroidism was diagnosed and subtotal parathyroidectomy was performed. Biochemical and imaging screening of MEN-1 was negative, as well as the genetic test. Acromegaly biochemical recurrence was detected in 2003 but MRI showed no tumor mass. He was started on octreotide LAR (10 mg s.c. monthly) and IGF1 and GH levels normalized. Octreotide was stopped in 2008. In 2010 a kidney mass was detected and the cytology showed a papillary renal cell carcinoma. He underwent left nephrectomy in 8/9/2010. Currently, the patient maintains acromegaly cure criteria and no evidence of hyperparathyroidism or renal cell carcinoma recurrence.

Discussion: This is an unusual case of acromegaly associated with hyperparathyroidism and renal cell carcinoma. Although there is no family history of pituitary tumors and the search for MEN-1 mutation was negative we can’t exclude a genetic syndrome. MEN-1 like syndrome remains a possibility but the search for the CDKN1B was not performed. Renal cell carcinoma was described in 0.5% of patients with acromegaly and its screening in these patients is not recommended. This case highlights the need for constant monitoring of acromegalic patients even when apparently cured. The search for GH and IGF1 receptor expression in neoplastic tissues of acromegalic patients could improve our understanding of cancer development mechanisms in these patients.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Endocrine Abstracts

P379