ACQUIRED AND GENETIC FACTORS IN CUSHING’S DISEASE: WHAT CAN BE LEARNED FROM FAMILY’S STUDIES
Liberman, B.; Salgado, L.R.; Cukiert, A . ; Goldman, J.; Buratini, J.A .
Departments of Endocrinology and Neurosurgery, Hospital Brigadeiro – São Paulo
Acquired and genetic factors have been postulated as ethiology of pituitary adenomas causing Cushing’s disease. No single genetic factor has been shown so far; a multifactorial ethiology was suggested. This paper describes families in which subjects had Cushing’s disease suggestive of different ethiologies
FAMILIES REPORT AND RESULTS
- Family I:
MR, a 13 years-old girl has an identical healthy twin sister. She developed Cushing’s disease 3 years prior to evaluation at the Neuroendocrine Unit. She disclosed the typical cushingoid phenotype, short stature and her MRI showed a pituitary macroadenoma. She was submitted to transesphenoidal surgery and hypercortisolism remitted after that. She is still shorter than her sister who is healthy and without any sign of pituitary disease.
- Family II:
MO, a 52 years-old woman presented with Cushing’s disease at the age of 34. She was submitted to tranesphenoidal surgery where a pituitary adenoma was found and hypercortisolism remitted. Eighteen years afterwards, her daughter VO presented with hypercortisolism. Her MRI showed a pituitary microadenoma. She was also submitted to transesphenoidal surgery where na ACTH-secreting tumor was found and hypercortisolism remitted. There are no signs or symptoms of any other endocrine tumor suggestive of MEN either in the mother or in the daughter.
Family I suggests na acquired and Family II a genetic ethiology for Cushing’s disease. The families reported here represent very rare examples of familial Cushing’s disease. Further studies on twins and more extensive pedigrees are needed to further evaluate genetic and acquired factors in Cusshing’s disease.