Capellini Q, Barba G
Divisione di Medicina Generale, Ospedale Ninetto Melli, S. Pietro Vernotico, Brindisi.
Minerva Med. 1991 Sep;82(9):591-4.
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.
劳-穆-比综合征的特征为视网膜色素变性、肥胖、精神障碍、多指（趾）畸形和性腺功能减退。肾脏受累也很常见，肾衰竭可能对患者致命。基于该综合征的近亲结婚和家族性情况，对一名47岁患有心血管衰竭且有明显精神性嗜睡的男性R.C.进行了研究。该患者呈现出该综合征的全貌。对其甲状腺功能进行了研究，发现总甲状腺素（TT4）、甲状腺素结合球蛋白（TBG）、反三碘甲状腺原氨酸（rT3）、促甲状腺激素（TSH）、促甲状腺激素释放激素（TRH）刺激试验、抗微粒体抗甲状腺球蛋白抗体均在正常范围内。另一方面，三碘甲状腺原氨酸（TT3）、游离三碘甲状腺原氨酸（FT3）、游离甲状腺素（FT4）和碘-131甲状腺摄取率显示出明显的甲状腺功能减退表现。就此而言，给予左甲状腺素（L-T4）后，感染症状完全恢复。这一情况可能证实了劳-穆-比综合征中下丘脑功能障碍的假说。
