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)

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

SAGGESE, GIUSEPPE;
1983

Abstract

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)
Saggese, Giuseppe; Bertelloni, S; Baroncelli, Gi; Calisti, L.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/6765
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