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Objective To describe new data about the wide phenotypic variability of diseases due to mutations in the lamin A/C gene (LMNA). Design We report a complex phenotype in a patient with familial partial lipodystrophy of the Dunnigan type (FPLD) and study the frequency of her unusual clinical signs in 19 other LMNA-mutated lipodystrophic patients from 8 different families and 14 non-mutated family members. Case Report The patient was diagnosed with FPLD due to the R482W LMNA mutation after familial screening. Surprisingly, she had no biological signs of insulin resistance. The presence of hypertension with hypokalaemia led to the diagnosis of primary hyperaldosteronism. Thyroid investigations showed a euthyroid multinodular goiter. In addition, the patient exhibited a juvenile akineto-hypertonic syndrome. Results Goiter was identified with a similar frequency (55%) in LMNA-mutated lipodystrophic patients (11 out of 20, originating from 5 families among 8) compared to non-mutated family controls (35%; 5 patients out of 14, all originating from the same family). No case of primary hyperaldosteronism or extrapyramidal syndrome was identified in other studied subjects, either LMNA-mutated or not. Conclusions This R482W-LMNA mutated patient showed an association of features (primary hyperaldosteronism, euthyroid goiter and extra-pyramidal syndrome, raising the question of a link with her laminopathy. Prevalence of goiter tended to be higher in LMNA-mutated than in non-mutated subjects. Hyperaldosteronism seems coincidental. Although extrapyramidal syndrome has never been reported in lipodystrophic patients, it may nevertheless be linked to the LMNA mutation since multiple neurological features have been associated with alterations in lamins A/C.

The current treatment of choice for primary hyperprolactinemia is medical. This is true not only for idiopathic forms, but also for micro- and macroprolactinomas, which are the most frequent causes of this pathology. Although questioned by some authors, the slow evolution of the illness, the rarity of transformation of a microadenoma into a macroadenoma, and the possibility of spontaneous cure cause most authors to favor medical treatment, with which they observe both normalization of gonadal function and tumor regression. By retrospective analysis of 95 hyperprolactinemic patients (72 women and 23 men including 26 cases of suspected microadenoma and 44 macroadenomas) treated with 3 dopamine agonists (bromocriptine, metergoline and CU 32085) between 1975 and 1983, and with the help of large series published in the literature, we have tried to review the present knowledge of this subject. After a quick review of different medications, we will consider their prolactin-suppressing effects, their influences upon gonadal and gonadotropic functions, and their antitumoral action. More specific problems will then be discussed: side effects, resistance, possibility of cure, the evolution of the prolactinoma, the place of medical therapy relative to surgery, and contraception in association with dopaminergics.