[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).
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005640:Follicle Stimulating Hormone / Q000097:blood; D005808:Genes, Recessive; D008040:Genetic Linkage; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D012611:Scrotum / Q000002:abnormalities*; D013577:Syndrome; D013739:Testosterone / Q000097:blood; D014960:X Chromosome
D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013006:Growth Hormone; D006854:Hydrocortisone
La sindrome di Aarskog. Descrizione di un caso e studio endocrinologico.