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Two patients with Cushing's disease in a kindred with multiple endocrine neoplasia type I
D Gaitan1, P T Loosen, D N Orth
1Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
Insights
Hereditary Cushing's disease, a rare manifestation of multiple endocrine neoplasia type I (MEN-I), was identified in a mother and daughter. This family also presented with primary hyperparathyroidism, suggesting a genetic link.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type I (MEN-I) is a rare genetic disorder predisposing individuals to tumors in endocrine glands.
- Cushing's disease, a form of Cushing's syndrome caused by a pituitary tumor, is an uncommon feature of MEN-I.
- Hereditary endocrine disorders often present with complex and overlapping clinical features.
Observation:
- A mother and her daughter were diagnosed with Cushing's disease (pituitary ACTH-dependent Cushing's syndrome).
- Both patients also exhibited major depressive disorder.
- The mother, another daughter, and two additional relatives presented with primary hyperparathyroidism.
Findings:
- This case report details the first known instance of hereditary Cushing's disease occurring as a manifestation of MEN-I within a single family.
- The co-occurrence of Cushing's disease and primary hyperparathyroidism in multiple family members suggests a shared genetic etiology.
- The presence of major depressive disorder in the affected individuals warrants further investigation into its association with MEN-I and Cushing's disease.
Implications:
- This finding expands the known clinical spectrum of MEN-I, highlighting Cushing's disease as a potential hereditary manifestation.
- Identifying hereditary Cushing's disease in MEN-I families can improve diagnostic strategies and genetic counseling.
- Further research is needed to elucidate the specific genetic mechanisms linking MEN-I, Cushing's disease, and psychiatric comorbidities.
Abstract:
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.