Category: Adrenal Disorders

Monitor: 20

20 - CONGENITAL ADRENAL HYPERPLASIA WITH TESTICULAR ADRENAL REST TUMORS AND BILATERAL ADRENAL MYELOLIPOMAS: A TREATMENT DILEMMA

Thursday, Apr 25
12:00 PM – 12:30 PM

Objective :

We report a case of male with a history of congenital adrenal hyperplasia (CAH) and testicular adrenal rest tumors (TARTs) presenting with adrenal myelolipomas. Our objective is to highlight the challenges in chronic management.


Methods : n/a


Results :


Case presentation: 
A 58-year old male with a history of classic CAH diagnosed in infancy was referred to endocrinology for management of bilateral adrenal masses. He has been adherent to life-long glucocorticoid (GC) and mineralocorticoid replacement. He developed bilateral testicular masses at age 35. He underwent orchiectomy at another institution for presumed Leydig cell tumors; histology confirmed TARTs. Bilateral adrenal myelolipomas (7 cm each) were diagnosed. Adrenocorticotropic hormone (ACTH) was elevated at 972 pg/mL (normal: 6-50). Further work-up indicated the myelolipomas were hormonally inactive and they have been managed conservatively. The adrenal masses have remained stable on CT scan over four years. His most recent ACTH level was 24 pg/mL. His clinical course has been complicated by osteopenia, osteonecrosis of bilateral hips and prostate cancer.


Discussion : A goal of treatment in classic CAH is to suppress adrenal hyperandrogenism with adequate GC replacement to assist fertility in adult men. Our patient developed TARTs and decades later was diagnosed with adrenal myelolipomas. Chronic ACTH stimulation and non-adherence to GC have been implicated in the occurrence of both tumors. First-line treatment for TARTs is intensification of GC which can cause tumor regression and restoration of sperm counts. Adrenal myelolipomas are rare, benign tumors that can occur in CAH. Chronic ACTH stimulation and adrenal myelolipomas can be associated, but a causal relationship is unclear. Management may require adrenalectomy in large, symptomatic tumors to avoid spontaneous rupture. There are no guidelines to optimize GC suppression of ACTH in myelolipomas. In our case, the use of high dose GC in the presence of GC-related complications was not feasible. Our patient had an elevated ACTH at the time of myelolipoma diagnosis, and a low ACTH and stable tumors on CT after four years.


Conclusion :

Our case highlights unique challenges in the management of men with classic CAH that requires indefinite GC replacement. When clinical problems occur that need intensification of GC therapy, achieving a balance between hyperandrogenism and hypercortisolism presents a treatment dilemma. Further research is needed to understand the pathogenesis of adrenal myelolipomas in CAH, and whether there is any role for ACTH testing and intensification of GC in management of these tumors. 

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Rama Nagireddi

Endocrinology Fellow
Creighton University School of Medicine, Nebraska

I am Rama, a first year Endocrinology Fellow at Creighton University School of Medicine in Omaha, Nebraska. I completed my my medical school in India before I moved to US to pursue a career in Endocrinology. I did my residency in Internal medicine at Saint Joseph Mercy Hospital in Michigan.

Robert J. Anderson

Program Director, Fellowship in Endocrinology, Diabetes and Metabolism
1. Creighton University School of Medicine 2. VA Nebraska-Western Iowa Healthcare System, Nebraska

Dr. Robert Anderson is an endocrinologist in Omaha, Nebraska and is affiliated with Creighton University Medical Center-Bergan Mercy. He received his medical degree from Northwestern University Feinberg School of Medicine. He finished his endocrinology fellowship in Mayo Clinic, Rochester, Minnesota. Currently, he is a chief, section of endocrinology in VA-Nebraska Western Iowa healthcare system and a program director of fellowship in endocrinology at Creighton University School of Medicine.

Rama Nagireddi

Endocrinology Fellow
Creighton University School of Medicine, Nebraska

I am Rama, a first year Endocrinology Fellow at Creighton University School of Medicine in Omaha, Nebraska. I completed my my medical school in India before I moved to US to pursue a career in Endocrinology. I did my residency in Internal medicine at Saint Joseph Mercy Hospital in Michigan.