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Autonomous hyperprolactinemia in tuberous sclerosis

Z T Bloomgarden, G W McLean, D Rabin

Archives of Internal Medicine

|October 1, 1981

Summary

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Tuberous sclerosis can cause amenorrhea and galactorrhea due to hyperprolactinemia. This condition, unresponsive to treatment, may stem from pituitary or ectopic sources like hamartomas.

Area of Science:

Neurology
Endocrinology
Oncology

Background:

Tuberous sclerosis is a genetic disorder characterized by hamartomas in multiple organs.
Hyperprolactinemia is a common endocrine disorder associated with various symptoms.

Observation:

A female patient with tuberous sclerosis presented with amenorrhea and galactorrhea.
Cranial imaging revealed intracerebral calcifications but no pituitary or hypothalamic lesions.
The patient exhibited fixed hyperprolactinemia unresponsive to multiple medical treatments.

Findings:

The persistent hyperprolactinemia in this case was not explained by a pituitary tumor.
Ectopic prolactin secretion by a hamartoma was considered as a potential cause.
The interplay between tuberous sclerosis, neurological abnormalities, and endocrine dysfunction was highlighted.

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Implications:

This case suggests that ectopic prolactin secretion by hamartomas should be considered in tuberous sclerosis patients with unexplained hyperprolactinemia.
Further research is needed to elucidate the mechanisms of ectopic hormone production in genetic disorders.
Understanding these mechanisms can lead to improved diagnostic and therapeutic strategies for patients with tuberous sclerosis and related conditions.