Key result
Hereditary Cushing's disease was identified as a manifestation of multiple endocrine neoplasia type I in a mother and daughter, representing the first reported instance in more than one kindred member.
Case Report (n=2)
This case report describes the first known instance of hereditary Cushing's disease as a manifestation of multiple endocrine neoplasia type I (MEN-I).
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May prompt familial screening in MEN1 with Cushing's; leaves open broader phenotypic prevalence.
Cushing's disease (pituitary ACTH-dependent Cushing's syndrome) has been described in association with the syndrome of multiple endocrine neoplasia type I (MEN-I). Cushing's disease is uncommon in MEN-I and has not been reported in more than one member of a kindred. Here we describe a mother and her daughter with Cushing's disease and major depressive disorder. The mother, her other daughter, and two other relatives also had primary hyperparathyroidism. We believe this to be the first reported instance of hereditary Cushing's disease as a manifestation of MEN-I.
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Román et al. (1993) conducted a case report in Cushing's disease and multiple endocrine neoplasia type I (MEN-I) (n=2). Multiple endocrine neoplasia type I (MEN-I) was evaluated on Occurrence of hereditary Cushing's disease. Hereditary Cushing's disease was identified as a manifestation of multiple endocrine neoplasia type I in a mother and daughter, representing the first reported instance in more than one kindred member.
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