E-Poster 63rd Endocrine Society of Australia Annual Scientific Meeting 2020

The Bee Family, SDHB-related Pheochromocytoma, Paraganglioma and Pituitary Adenoma (#82)

Johanna Kuehn 1 , Shamasunder Acharya 1 2
  1. Department of Diabetes & Endocrinology, John Hunter Hospital, Newcastle, NSW, Australia
  2. School of Medicine and Public Health, University of Newcastle, Newcastle, NSW

Case Reports:

A 46-year old male presented with bitemporal hemianopia in the context of known prolactinoma; initially diagnosed aged 31 years with vision failure, prolactin level of 13680 mIU/L and pituitary macroadenoma measuring 27x90x26mm, associated with hypogonadism and hypothyroidism. Initial treatment response had been satisfactory and pituitary function remained optimised on Cabergoline, Thyroxine and Reandron. Current MRI findings were consistent with stable traction hemianopia and did not show progression over time.

His mother, a 76-year old female, was subsequently found to have a right base of skull paraganglioma (PGL) measuring 31x21x30mm with intense DOTATATE avidity. She remained clinically asymptomatic without biochemical evidence of catecholamine hypersecretion. Considering her advanced age and the location of PGL conservative management was implemented.

His older brother, a 53-year old with history of longstanding hypertension and a recent diagnosis of Diabetes mellitus, was found to have metastatic pheochromocytoma (Pheo) originating as a large right bilobed adrenal mass (53 x 31 x 55mm). Plasma and urinary normetanephrines were elevated at 18-times the upper reference range and he was clinically symptomatic with palpitations, perspiration and 5 kg weight loss. Blood pressure was inadequately controlled on 5 antihypertensive agents. Post right radical adrenalectomy and retroperitoneal lymph node resection (pT3 pN1 Mx), he underwent biochemical and clinical remission.

Genetic testing confirmed a SDHB gene mutation in all three cases and further eight family members over 3 generations.

Discussion:

A combination of Pheo, PGL and pituitary adenomas (PA) is an uncommon occurrence, but has been described as ‘The three P Association’ and can be associated with SDHB gene mutation.1-3 Whereas the occurrence of PA in SDH germline mutation carriers is rare; genetic testing is advisable in all patients or families with ‘3PA’; familial or early onset PAs, and/or Pheo/PGLs especially when presenting with multifocal, bilateral or metastatic disease.

 

  1. Samuel M O’Toole, Judit Denes, Mercedes Robledo, Constantine A Stratakis, Marta Korbonits, The association of pituitary adenomas and phaeochromocytomas or paragangliomas, Endocrine-Related Cancer (2015) 22, T105–T122.
  2. Xekouki P, Szarek E, Bullova P, Giubellino A, QuezadoM, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M & Rentia N, Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in human and mice. Journal of Clinical Endocrinology and Metabolism 100 E710–E719.
  3. Denes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A,Wassif C et al., Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma – results from a large patient cohort. Journal of Clinical Endocrinology and Metabolism 100 E531–E541.