Aarskog's syndrome. Description of a case and endocrinological study
Saggese, G.; Bertelloni, S.; Baroncelli, G.I.; Calisti, L.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 5(6): 613-618
1983
ISSN/ISBN: 0391-5387 PMID: 6442411 Document Number: 210330
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).