Endocrine Abstracts

A female patient, 34 years old, was referred to endocrinologist, for an incidentally discovered interstellar mass on MR, mild subclinical hypothyroidism and hyperprolactinemia, and irregular menstrual cycles. She was diagnosed with Bloch-Sulzberger syndrome (BSS) in neonatal age. Epilepsy, her most prominent component of BSS, was well controlled but only with triple anticonvulsant therapy (Valproate, Carbamazepine, Clonazepam). She was obese, clinically euthyroid, and exhibited dermal, ocular and dental signs of the late phase of BSS. Elevated serum lipids and insulin resistance were observed. Mild hypothyroidism, with negative anti-thyroid antibodies was confirmed, with a response in TRH test pointing to primary hypothyroidism accompanied by mild hyperprolactinemia, responsive to TRH. Normal basal gonadotropins with a slow response to LHRH test were observed. Slightly lower IGF-1 was accompanied by a low normal response of GH to GHRH-GHRP-6. The pituitary tumor apparently exhibited no hormonal activity and no mass effects were observed by profile craniography and computerized perimetry. It was thus decided that it currently demanded only surveillance. The mild thyroid, reproductive and metabolic disturbances were attributed to the known side effects of antiepileptics. Lacking the opportunity to exclude the antiepileptic drugs and thus revert their side effects, a decision was made to relieve the subclinical hypothyroidism by levothyroxine replacement. Two months after introducing the replacement therapy, a marked clinical and laboratory improvement was notable.

BSS is a rare, X linked syndrome caused by an inactivating mutation in the NEMO gene. Dermal manifestations are the most prominent, followed by neurological (including epilepsy), ocular, dental and other. It is also associated with a higher tumor incidence. There is a possibility that a pituitary tumor, as observed in our patient, can represent a component of BSS, which was never previously reported.