Adrenal Incidentaloma in Father Leads to Diagnosis of Congeital Adrenal Hyperplasia in Daughter

Presentation Number: SAT-0768
Date of Presentation: June 21st, 2014

Lara Paraskos*1 and Atil Yilmaz Kargi2
1University of Miami, Coral Gables, FL, 2University of Miami Miller School of Medicine, Miami, FL


INTRODUCTION: Congenital Adrenal Hyperplasia (CAH) is a known a cause of nonhyperfunctioning adrenal adenomas.  Non-classical CAH presents in late childhood or early adulthood and manifests itself in females as hyperandrogenism, anovulatory infertility and amenorrhea, in males excess androgen does not cause clinical signs and so diagnosis is usually not made.  Non-Classical CAH should be ruled out in patients suspected of PCOS as the phenotypes overlap significantly.  Elevated serum 17-hydroxyprogesterone (17OHP) has been observed in patients with adrenal adenomas both with and without CAH, suggesting that abnormal tumoral steroidogenesis, rather than CAH, may be the cause in some instances.

CASE PRESENTATION: We present a case of a 48-year-old man referred for evaluation of bilateral adrenal masses..  He initially presented with a  1.5 cm left adrenal adenoma with benign imaging characteristics found incidentally on CT scan of abdomen 10 years prior for evaluation of musculoskeletal pain  . Functional workup was negative and the nodule was followed annually for several years with minimal growth. 10 years after the initial diagnosis, MRI of the abdomen showed interval increase of left sided adenoma to 2.3cm and development of a right-sided 2.7cm adrenal adenoma.  Dedicated CT abdomen with adrenal mass protocol revealed bilateral adenomas with  precontrast density <10 HU.  To elucidate an etiology of these adenomas and prevent further testing and imaging, a baseline17OHP level was measured and found to be elevated at 657 ng/dL (33-195), and after ACTH stimulation increased to 3535 ng/dL (33-195).  This led to the diagnosis of non-classical CAH.

This diagnosis lead to questions regarding his children, and it was discovered that his 21 year old daughter was previously diagnosed with PCOS.  We performed baseline 17-hydroxyprogesterone level testing on the daughter and the levels were significantly elevated at 1127 ng/dL (33-195), confirming a diagnosis of non-classical CAH rather than PCOS.

In this case, elucidating the etiology of the bilateral adenomas as non-classical CAH does not affect the treatment course of the father, but has led to the diagnosis of non-classical CAH in the patient’s daughter who had been previously diagnosed with PCOS.  Both father and daughter have been referred to genetics for testing, as it will be useful to have pre-conception genetic counseling in the daughter.  Additionally, a diagnosis of non-classical CAH in the father will provide reassurance to treating physicians and eliminate the need for repeat adrenal imaging. 

CONCLUSION: We conclude that a diagnosis of non-classical CAH should be considered even in males with adrenal adenomas as this may have implications for family members.


Nothing to Disclose: LP, AYK