CASE 1 Cushings Disease Difficulties In Diagnosis Case Description

A 38-yr-old woman was referred because of a 75-lb weight gain over the past 7 yr. She has noticed some increasing facial fullness and has had some problems with climbing stairs. She has had insomnia and nocturia for the past 3 yr and complains of some easy bruisability. She recently suffered a stress fracture in her right foot. She has maintained normal menstrual periods, but has had a decreased libido. She complains of emotional lability over the past 2 yr. She denied any history of diabetes, hypertension, or kidney stones.

Her past medical history is remarkable for a left oophorectomy 6 mo ago for a ruptured ovarian cyst. She has recently been receiving some counseling for depression. There is a family history of thyroid disease in her mother and diabetes in both maternal grandparents. She has had two pregnancies and two healthy children. There is no history of significant alcohol use and she does not smoke.

Examination showed a slightly cushingoid woman (see Fig. 1) with a BP of 130/90, pulse 88, height 63'', weight 222 lbs. She had some mild facial rounding with very slight plethora. Her skin was not thin. She did have a slight increase in supraclavicular fullness as well as a dorsocervical fat pad. The thyroid examination was normal. She had good muscle strength and no peripheral edema.

Biochemical evaluation showed the following 24-h urine free cortisol (UFC) measurement obtained during a 3-mo period: 222 |g, 42 |g, 78 |g, and 54 |g (normal <50 |g/d). An overnight 1-mg dexamethasone suppression test yielded a serum cortisol of <1 |g/dL. An 11:00 PM salivary cortisol level was 5.3 nmol/L (0.4-3.6 nmol/L).

Computed tomography (CT) of the abdomen showed a 4-cm mass in the right adrenal gland and the left adrenal gland appeared normal. A cystic area of 2 cm was noted on the

From: Contemporary Endocrinology: Challenging Cases in Endocrinology Edited by: M. E. Molitch © Humana Press Inc., Totowa, NJ

Fig. 1. A young woman with a 75-lb. weight gain over 7 yr.

right ovary. A CT scan of the pituitary gland showed a convexity of the pituitary gland but no discrete pituitary lesion was identified. Because of claustrophobia, the patient would not undergo an MRI of the pituitary.

The patient was referred for inferior petrosal sinus adrenocorticotropic hormone (ACTH) sampling. The results are outlined in Table 1. A left-sided pituitary corticotroph adenoma was suspected based on these results and she was referred to an experienced pituitary neurosurgeon.

At the academic medical center where she was referred, she was initially seen by an endocrinologist who did not believe she had spontaneous Cushing's syndrome. The patient was admitted to a clinical research center and underwent the 2-d low-dose dexamethasone suppression test (dexamethasone 0.5 mg every 6 h x 8 doses). On the second day of this test, the urine free cortisol and 17-hydroxycorticosteroids were undetectable. She was referred back to her private endocrinologist.

Another late-night salivary cortisol level was 4.9 nmol/L (0.3-3.6) and a dexametha-sone corticotropin releasing hormone (CRH) test was performed. The results are shown in Table 1. After these studies, the pituitary neurosurgeon agreed to operate on this woman. Transsphenoidal surgery demonstrated a 2-mm left corticotroph microadenoma, which was successfully removed and was followed promptly by secondary adrenal insufficiency. Within 24 mo, her pituitary-adrenal axis recovered. Subsequent CT of the adrenals showed regression of the 4-cm adrenal nodule. The patient lost 60 lbs and is very pleased with her clinical outcome.

Table 1 Case 1

Inferior Petrosal Sinus Sampling

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  • milen
    What is mild fullness pituitary without discrete mass?
    7 years ago

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