Misdiagnosed Radiological Findings in a Patient with Compound Heterozygous 21-Hydroxylase Deficiency   

Presentation Number: SAT 365
Date of Presentation: April 1st, 2017

Stacy Goldbaum*1, Sonali Biligiri2 and Alan Chang3
1Drexel University College of Medicine, Philadelphia, PA, 2Drexel University College of Medicine, 3Drexel University College of Medicine, PA



Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroid synthesis, the majority of which is caused by 21-hydroxylase deficiency. Multiple alleles could be mutated with each allele being associated with classical or nonclassical CAH. In untreated compound heterozygous patients, this can still cause complications such as testicular adrenal rest tumors (TARTs) and benign adrenal tumors such as myelolipomas. These can be easily missed or misinterpreted on routine imaging.  


37 year old male presented for evaluation after incidental imaging revealed bilateral adrenal enlargement. He was told he had adrenal cancer and should see an endocrinologist. At the office visit, he stated he was diagnosed with CAH as a child (type unknown) and started on fludrocortisone by a pediatric endocrinologist, which was stopped 12 years ago. He had never been on glucocorticoids, nor was he ever hospitalized for adrenal insufficiency. Prior to the visit, a CT abdomen/pelvis with contrast was performed for abdominal pain and showed enlargement of both adrenal glands: 7.8x9.1x6.5cm on the left, 5.1x10x7.1cm on the right. Multiple masses with fat density on the right anterior limb were also noted, the largest being 3.1x3.7x3.9cm, along with small hypodense lesions posteriorly. Additionally, a testicular ultrasound was performed after he noticed his testicles felt firm, and bilateral testicular tissue replaced with solid, hypoechoic lobulated masses were noted. The right was 4.1x1.8x2.4cm and 3.8x2.5x2.5cm on the left; both were surrounded by normal testicular tissue. While his adrenal and testicular abnormalities fit classical CAH with presumed myelolipomas and TARTs, respectively, the lack of prior glucocorticoid therapy pointed towards a non-classical etiology. Further work-up to establish diagnosis was then obtained. The 17-hydroxyprogesterone level was 34526 ng/dl (ref 42-196) and the CYP21A2 gene analysis showed P453S mutation and 30kb deletion. Plasma free metanephrines were negative: metanephrines <25pg/ml (ref<57), normetanephrines 78 pg/ml (ref<148), and total metanephrines 78 pg/ml (ref <205). The DHEA-S level was not elevated at 61 mcg/dl (ref 106-464). Initially, dexamethasone 0.75mg at bedtime was started as the patient also took carbamazepine, a CYP3A4 inducer; this was eventually decreased to 0.5mg. On follow up, the patient did well without cushingoid symptoms.


Clinicians should consider a diagnosis of compounded heterozygous CAH in patients with findings of myelolipomas and TARTs. Failure to understand this entity can result in misdiagnosis, and the patient may undergo improper treatment which can be detrimental to their health. Currently, there is a lack of literature in regards to compounded heterozygous patients and the prevalence of TARTS and myelolipomas. 


Nothing to Disclose: SG, SB, AC