Category: Adrenal Disorders

Monitor: 14

14 - A RARE CASE OF ACTH DEPENDENT CUSHING SYNDROME IN PATIENT WITH HISTORY OF MCCUNE-ALBRIGHT SYNDROME

Friday, Apr 26
11:00 AM – 11:30 AM

Objective : (1) To understand the mechanism of endocrinopathies associated with McCune-Albright syndrome (MAS), (2) to review the treatment options available for life threatening Cushing syndrome in patients with MAS.


Methods : We reviewed the patient's clinical course along with the relevant literature.


Results : We present a case of 50-year-old female with history of McCune-Albright syndrome (MAS). She presented with precocious puberty and bony abnormalities at the age of 7. She was evaluated in our clinic at the age of 47 for symptoms of severe hypokalemia, hyperglycemia, and weight gain. Physical exam showed coarse facial features, asymmetry of jaw, hyperpigmentation of lower inner lip, dark striae on abdomen, upper arms, and thigh, and coast of Maine café-au-lait spot. Her initial labs showed 24-hour urinary free cortisol level of 392 mcg/24h (3.5-45 mcg/24 h), ACTH 101 pg/ml (10-50 pg/ml), IGF-1 325 ng/ml (56-194 ng/ml), FSH 0.7 mIU/ml (1.9-11.6mIU/ml), GH 0.60 ng/ml (0.01-3.61 ng/ml), LH <0.5 mIU/ml (2.6-12.1 mIU/ml), Prolactin 15 ng/ml (3-19 ng/ml). MRI brain didn’t show any pituitary lesion. Bilateral inferior petrosal sinus sampling was not possible due to tortuosity of vessels. She was not deemed appropriate for surgery due to fibrous dysplasia of her skull. Radiation treatment was done, and she was put on ketoconazole. After 2 years of her initial presentation she developed severe sepsis and necrotizing fasciitis of abdomen. She had a prolonged hospitalization for 6 months due to complications of Cushing syndrome including hyperglycemia, hypernatremia, hypovolemia, hypokalemia, and severe sepsis. She was treated with ketoconazole, metyrapone, and etomidate drip. She was re-evaluated after discharge and bilateral adrenalectomy was done.


Discussion : McCune-Albright Syndrome (MAS) is a rare genetic disorder caused by postzygotic mutation in GNAS gene leading to activation of the stimulatory G-protein alpha subunit, that is coupled to several cell surface hormone receptors. In addition to typical triad of polyostotic fibrous dysplasia, precocious puberty and café au-lait skin pigmentations, MAS is also associated with several hyperfunctioning endocrinopathies e.g. precocious puberty, hyperthyroidism, Acromegaly, hyperprolactinemia, and hypercortisolism.


Conclusion : Cushing syndrome is a rare but fatal manifestation of MAS. Cushing syndrome has very diverse clinical course in MAS patients ranging from spontaneous resolution to need for bilateral adrenalectomy or even death. Physicians should have low index of suspicion to test for hypercortisolemia in setting of MAS and symptoms of hypercortisolism. Prompt medical therapy and evaluation for bilateral adrenalectomy should be done.

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Sadia Ejaz

Endocrinology Fellow
University of North Carolina Chapel Hill
Cary, North Carolina

My interest in endocrinology is deep-seated and goes way back to my medical school when I first studied endocrinology and started admiring its feedback loops. I was fascinated to observe that our body works on the same principles of physics as our home appliances. My interest in endocrinology increased manifolds when I studied how different hormones secreted by various glands connect the positive and negative feedback circuits, which help us reach the culprit when something goes wrong i.e., assist us in making the right diagnosis and choosing the right treatment. After finishing my medical school and starting the new chapter of residency, my passion towards endocrinology further intensified when I did two rotations with experienced endocrinologists. By the end of the first year of my residency, I was sure that I want to be an excellent endocrinologist and I geared all my efforts in the direction of securing a fellowship position in endocrinology.

Within the first year of my residency, I joined the American Association of Clinical Endocrinologists (AACE) and have attended all of their annual conferences ever since. I have been an active member of AACE and have presented posters in the clinical vignette category of its annual conferences in 2015, 2016, and 2017. I have also secured first position in AACE Carolina Chapter in clinical vignette category. AACE has been an excellent platform for me and I want to continue expanding my knowledge with the help of this platform.

Currently I am doing fellowship in Endocrinology at University of North Carolina Chapel Hill. I feel lucky to be mentored by Dr. Laura Young and Dr. John Buse. My program director has been very supportive and encourages her fellows to actively participate in AACE conferences for staying up-to-date and getting connected with the renowned endocrinologists. I have also used AACE mentorship program and it has been a very valuable resource.

Sadia Ejaz

Endocrinology Fellow
University of North Carolina Chapel Hill
Cary, North Carolina

My interest in endocrinology is deep-seated and goes way back to my medical school when I first studied endocrinology and started admiring its feedback loops. I was fascinated to observe that our body works on the same principles of physics as our home appliances. My interest in endocrinology increased manifolds when I studied how different hormones secreted by various glands connect the positive and negative feedback circuits, which help us reach the culprit when something goes wrong i.e., assist us in making the right diagnosis and choosing the right treatment. After finishing my medical school and starting the new chapter of residency, my passion towards endocrinology further intensified when I did two rotations with experienced endocrinologists. By the end of the first year of my residency, I was sure that I want to be an excellent endocrinologist and I geared all my efforts in the direction of securing a fellowship position in endocrinology.

Within the first year of my residency, I joined the American Association of Clinical Endocrinologists (AACE) and have attended all of their annual conferences ever since. I have been an active member of AACE and have presented posters in the clinical vignette category of its annual conferences in 2015, 2016, and 2017. I have also secured first position in AACE Carolina Chapter in clinical vignette category. AACE has been an excellent platform for me and I want to continue expanding my knowledge with the help of this platform.

Currently I am doing fellowship in Endocrinology at University of North Carolina Chapel Hill. I feel lucky to be mentored by Dr. Laura Young and Dr. John Buse. My program director has been very supportive and encourages her fellows to actively participate in AACE conferences for staying up-to-date and getting connected with the renowned endocrinologists. I have also used AACE mentorship program and it has been a very valuable resource.