A syndrome characterized by benign muscular dystrophy, hypergonadotrophic hypogonadism, congenital cataract and normal karyotype is reported. A similar condition was described by Bassoe. The patient's family tree revealed a number of isolated cases presenting some component of the syndrome, suggesting that it is connected with a recessive autosomal gene, probably with a 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 to Steinert's myotonic dystrophy and to other hereditary or familial neuroectodermal syndromes, compared to which it presents specific differential traits.
|Translated title of the contribution||Benign muscular dystrophy with hypergonadotropic hypogonadism and congenital cataract|
|Number of pages||9|
|Publication status||Published - 1976|
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