Presence of a Gsα mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome

M. J. M. Bugalho Department of Endocrinology/Laboratory of Molecular Biology, Portuguese Cancer Institute, Lisbon, Portugal

X. Li Laboratory of Molecular Reproductive Biology and Medicine, Department of Obstetrics and Gynecology, University of Louisville Health Sciences Center, Louisville, KentuckyUSA

Ch. V. Rao Laboratory of Molecular Reproductive Biology and Medicine, Department of Obstetrics and Gynecology, University of Louisville Health Sciences Center, Louisville, KentuckyUSA

J. Soares Department of Pathology, Portuguese Cancer Institute, Lisbon, Portugal

L. G. Sobrinho Department of Endocrinology/Laboratory of Molecular Biology, Portuguese Cancer Institute, Lisbon, Portugal

Abstract

We describe the case of a patient with Cushing's syndrome due to a functioning adrenal adenoma. There was a pronounced increase in serum and urinary Cortisol after administration of human chorionic gonadotropin. Immunocytochemistry revealed positive immunostaining for LH/hCG receptors. Molecular analysis documented the presence of a gsp mutation at codon 201 (CGT to TGT).

The existence of this type of hCG-responsive adrenal tumor may help explain the higher prevalence of cortisol-secreting adrenal tumors versus pituitary-dependent disease in pregnant women with Cushing's syndrome as well as some reported cases of remission following delivery.

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Presence of a Gsα mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome

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Presence of a Gsα mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome

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