Reifenstein's Syndrome-a Target Cell Failure

Abstract

The features of Reifenstein's Syndrome comprise hypospadias, microtestes, gynecomastia, azoospermia and elevated gonadotropins. The disease is inherited as either a male limited autosomal dominant or as a X-linked recessive trait and affects only genetic males. A case is reported suffering from this condition. Pituitary function was evaluated using the GnRH-test and appeared to be normal. Prolactin and testosterone values were in the normal range. The patient was a phenotype male and sexual function was satisfactory. Primary tubular failure resulting in hypergonadotropic hypogonadism was diagnosed. No other relatives were found to be affected. The syndrome seems to be due to relative insensitivity of Leydig cells to androgens.