Management
Treatment with a multidisciplinary team is recommended and, long-term follow-up should be coordinated with an endocrinologist. Asymptomatic or incidentally found cases without hormonal dysregulation should be followed with serial hormonal and imaging testing. The treatment of choice for PBMAH is bilateral adrenalectomy in severe cases, currently defined as a urinary free cortisol greater than three-times the upper limit of normal. In subclinical or mildly overt cases, only the larger adrenal gland is typically removed. The presence of aberrant receptors, detected through specialized testing, may offer an opportunity for medical therapies, including beta blockers for aberrant beta-adrenergic receptor.
Genetic Counselling
Pathogenic variants in ARMC5 causing PBMAH are inherited in an autosomal dominant manner with incomplete penetrance or can be sporadic. A carrier of a disease-causing variant in AMRC5 has a 50% chance of transmitting the gene to their offspring’s. To develop PBMAH the carrier of an inherited pathogenic variant must present a second pathogenic variant occurring in his/her adrenal gland tissue. The predisposing risk factors for developing this second hit is unknown. Other genes can lead to PBMAH, including MEN1 [613733], APC [611731], and FH [136850].