Abstract
Endocrine function was studied in 12 patients, 7 men and 5 women, with myotonic dystrophy (MD). Growth hormone (GH) was within normal limits in all the patients and there was no response to arginine stimulation. Prolactin (PRL) was above normal in only 2 cases (one man and one woman) and the response to TRH was below normal in 2 patients and slightly above in one. The GnRH test yielded a reduced LH response in 4 of the 7 men and none at all in the 3 women in whom it was done. The FSH response was below normal in only one of the 7 men and in 3 out of 4 women. The testosterone assay after HCG stimulation was borderline high in 2 out of 6 men and below normal in one. The level of thyroid hormones (T3, T4, FTI, TSH) was normal in all patients except one, whose FTI and T4 level were below normal. In the TRH test TSH was raised in only one of the 6 patients tested. The circadian rhythm of cortisol was absent in 3 out of 10 patients and 3 out of 8 patients showed no response to ACTH stimulation. The results of the study suggest that endocrine alterations are fairly frequent in MD but that they are neither specific nor correlated with disease severity or duration.
Sommario
Nel presente lavoro vengono riportati i risultati di uno studio della funzionalità endocrina condotto su 12 pazienti affetti da Distrofia Miotonica (D.M.) (7 uomini e 5 donne). Il G.H. è risultato nella norma in tutti i pazienti, mentre la risposta allo stimolo con arginina è risultata assente. La prolattina (PRL) è stata trovata più elevata della norma solo in 2 casi (un uomo ed una donna) mentre allo stimolo con TRH la risposta è stata deficitaria in 2 pazienti e modicamente aumentata in uno. Il test con Gn-RH ha dato una risposta per l'LH ridotta in 4 su 7 uomini mentre è stata assentè in tutte le 4 donne in cui è stata eseguita; per l'FSH la risposta è stata deficitaria in uno solo su 7 uomini ed in 3 su 4 donne. In 6 uomini il dosaggio del testosterone dopo stimolo con HCG è risultato ai limiti superiori in due casi e deficitario in uno. Il tasso degli ormoni tiroidei (T3, T4, FTI, TSH) è risultato normale in tutti i pazienti ad eccezione di un caso con valori inferiori alla norma di FTI e T4. Al TRH test il TSH è risultato elevato in un solo caso dei 6 esaminati. Il ritmo circadiano del cortisolo è risultato assente in 3 su 10 pazienti mentre 3 su 8 pazienti non hanno presentato alcuna risposta allo stimolo con ACTH. I dati emersi dalla ricerca suggeriscono che nella D.M. alterazioni endocrine sono abbastanza frequenti ma non specifiche né correlate con la gravità e la durata della malattia.
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Pizzi, A., Fusi, S., Forti, G. et al. Study of endocrine function in myotonic dystrophy. Ital J Neuro Sci 6, 457–467 (1985). https://doi.org/10.1007/BF02331039
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DOI: https://doi.org/10.1007/BF02331039