Two rare cases of familial (mother and daughter) adrenocorticotropic hormone-independent Cushing's syndrome due to adrenal adenoma, as well as the asynchronous development of another contralateral adrenal adenoma in the mother.
We herein report two cases involving a mother and daughter who presented with clinical features of Cushing's syndrome (CS) at 50 and 29 years of age, respectively, and were both found to have adrenocorticotropic hormone-independent adrenal adenoma. Furthermore, a new adenoma was detected in the contralateral adrenal gland in the mother 10 years after surgical treatment, when she presented with subclinical CS. The pathogenesis of this disorder, including the presence of unknown genetic abnormalities causing hereditary CS, is currently poorly understood. In this report, we describe our experience with and consider the pathophysiological implications of two rare and very interesting cases of familial CS.
Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center, Japan.
Atsushi
A
Ogo
Yuka
Y
Sakaki
Nao
N
Hasuzawa
Ryoko
R
Saitou
Yuka
Y
Matoba
Takeshi
T
Usui
Mitsuhide
M
Naruse
D000310:Adrenal Gland Neoplasms / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D000311:Adrenal Glands / Q000473:pathology*; D018246:Adrenocortical Adenoma / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D000324:Adrenocorticotropic Hormone / Q000097:blood*; D000328:Adult; D003480:Cushing Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009035:Mothers; D009679:Nuclear Family; D035583:Rare Diseases; D014057:Tomography, X-Ray Computed
D000324:Adrenocorticotropic Hormone