Abstract


Background: The glucocorticoid resistance syndrome (GCRS) is a familial or sporadic condition characterized by generalized or partial tissue insensitivity to GC. A compensatory activation of the hypothalamic-pituitary-adrenal axis occurs with increased ACTH, cortisol, mineralocorticoid and androgen secretion and hypertrophy/hyperplasia adrenocortical. It is caused by a mutation/deletion in the GC receptor (GR) gene.

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Background: The glucocorticoid resistance syndrome (GCRS) is a familial or sporadic condition characterized by generalized or partial tissue insensitivity to GC. A compensatory activation of the hypothalamic-pituitary-adrenal axis occurs with increased ACTH, cortisol, mineralocorticoid and androgen secretion and hypertrophy/hyperplasia adrenocortical. It is caused by a mutation/deletion in the GC receptor (GR) gene.

Clinical case: A 39 y.o. male with Congenital Adrenal Hyperplasia (CAH) (simple virilizing form, that was diagnosed as a neonate) was studied; his twin with the same diagnosis, died before 5 y.o.
He was treated with oral Hydrocortisone in different schedules. At 29 y.o., high blood pressure was detected and dose is reduced to 10 mg/day. Finally, he discontinued Hydrocortisone 6 months before admission. In the last 2 years, abdominal and left lumbar pain appeared. Abdominal ultrasound reported enlarged adrenals and the CT-scan showed bilateral adrenal masses of 16 cm at right and 24 cm at left (large diameter), with features of myelolipomas. He was admitted in our center for surgical resolution. At physical exam he was dehydrated with low blood pressure and tachycardia. Height: 147cm, pigmented skin, palpable masses in the upper abdomen. Clinically, impressed like adrenal insufficiency, serum sodium: 131 mEq/L and potassium: 4.7 mEq/L. The early morning Cortisol was 61.6 ug/dl. After that, we continued the study performing adrenal steroids determinations. Free urinary Cortisol: 924 µg/24h, plasma ACTH: 1019 pg/ml, Aldosterone: 100 ng/ml, plasma renin activity: 36 ng/ml/h, 17 OH Progesterone: >20 µg/dl, Total Testosterone: 1740 ng/dl.

These results suggested GCRS. Then, an evening dose of 1mg oral Dexamethasone was started. The morning cortisol decreased to 19.9 ug/dl and ACTH to 116 pg/ml. His general condition improved, serum sodium and potassium normalized. Sellar MRI was normal and testicular ultrasound showed bilateral adrenal rests. Bilateral adrenalectomy was performed. The histology confirmed bilateral myelolipomas. Cortisol at one week was undetectable.

Molecular analysis did not find a mutation in the GR but, a variant in theNF1 gene (NF1 (NF1) ADp.P678A c.2032_2034delCCGinsGCA). Nevertheless, there were not obvious manifestations of neurofibromatosis.

Conclusions: GCRS is very rare. It can be confused with CAH. It should be suspected in all patients with elevated cortisol and ACTH without signs of hypercortisolism. We do not know what role if any the NF1 gene mutation played in this case, but there are several non-GR-mutant cases of GCRS.

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