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Abstract:
A patient with pubertal gynecomastia had a younger brother and two maternal uncles with the same condition. Investigation of one of the two uncles, who are both now infertile, revealed the characteristic features of the del Castillo syndrome. It is suggested that the propositus also has del Castillo syndrome which is probably a peri or postpubertal type of primary testicular deficiency in the early stages of which spermatogenic function is still present.