Abstract:
:The Laurence-Moon-Biedl syndrome is characterized by retinitis pigmentosa, obesity, psychic disturbances, polydactily and hypogonadism. Renal involvement is also a frequent finding and renal failure may be fatal for the patient. On the basis of the consanguinity and the familiarity of this syndrome. R.C., a 47 years old male, with cardiovascular failure and marked psychic sleepiness has been studied. The patient showed the full picture of this syndrome. The thyroid function has been studied and, TT4, TBG, rT3, TSH, TRH stimulation test, antimicrosomial antitireoglobulin antibodies were found within normal limit. On the other hand TT3, FT3, FT4 and 131-I thyroid captation showed a clear hypothyroidism picture. In this connection, on L-T4 administration, infect there was a complete recovery of the symptoms. This picture may confirm the hypothesis of a hypothalamic disfunction in the Laurence-Moon-Biedl syndrome.
journal_name
Minerva Medjournal_title
Minerva medicaauthors
Capellini Q,Barba Gsubject
Has Abstractpub_date
1991-09-01 00:00:00pages
591-4issue
9eissn
0026-4806issn
1827-1669journal_volume
82pub_type
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