[Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract].
A syndrome characterized by benig muscular dystrophy, hypergonadotropic hypogonadism, congenital cataract and normal karyotype is reported. A similar condition was described by Bassöe. The patient's family tree revealed a number of isolated cases presenting some component of the syndrome, suggesting that this is connected with a recessive autosomic gene, probably with pleiotropic effect. The muscular disorder was absent in most of the other family members and its clinical signs were probably favoured by the low plasma level of testosterone with consequent reduced myotrophic action. The simultaneous presence of congenital cataract links the syndrome on the one hand to Steinert's myotonic dystrophy, although there were no clinical or electromyographic signs of myotonia, and on the other to other hereditary or familial neuroectodermal syndromes, compared to which it presents specific differential traits.
D000328:Adult; D001706:Biopsy; D002386:Cataract / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D006062:Gonadotropins / Q000378:metabolism*; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree
D006062:Gonadotropins
Miodistrofia benigna con ipogonadismo ipergonadotropo e cataratta congenita