Endocrine Abstracts

Introduction: Pendred syndrome is a rare autosomal recessive disease and the classic triad is congenital sensorineural hearing impairment, goiter and impaired iodine organification with abnormal perchlorate discharge test, but hypothalamic tumors are not a feature of this syndrome.

Case report: We report a case of a 32-year-old female with Pendred syndrome confirmed by genetic testing and perchlorate discharge test, with goiter, hypothyroidism treated with levothyroxine (125 μg/day), sensorineural deafness and mental retardation.

The patient presented a 3-month history of bilateral galactorrhea, without menstrual irregularity, no headaches, no visual disturbances, neither other symptoms.

Endocrinological studies relealed hyperprolactinemia (basal prolactin=147 ng/ml), without other anterior pituitary dysfunction.

Brain magnetic resonance imaging (MRI) identified a hypothalamic tumor (17 mm), isodense on T1 and hyperdense on T2 imaging, with enhance after contrast injection, and discreetly thickened pituitary stalk, without other changes. Visual fields testing were normal.

In the absence of visual field abnormalities and endocrine dysfunction other than hyperprolactinemia, an expectant policy of no intervention and periodic follow-up was indicated (MRI scan at 12 month intervals).

She started bromocriptine (2.5 mg/day) with favorable biochemical response and normalization of prolactin levels.

During 8 years of follow-up, the patient remains asymptomatic, without galactorrhea and the size of the hypothalamic mass stable in annual MRI scan.

Conclusion: The case is presented in the light of its rarity.