Aarskog's syndrome. Description of a case and endocrinological study

A 7-year-old male with the Aarskog Syndrome is described. This observation is the seventh of the italian literature. The child had the typical findings of the syndrome: short stature, abnormal facies, short fingers with interdigital webbing, unusual scrotal folds encircling the penis ventrally, cryptorchidism and mild mental retardation. Endocrinological study showed only a reduction of Testosterone secretion attributable to malposition of the testis. The presence of minor abnormalities in the mother is compatible with a "X-linked" recessive transmission or with inheritance of an autosomal gene, dominant in males and recessive in females (sex controlled)