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

Pediatr Med Chir. 1983 Nov-Dec;5(6):613-8.
[Article in Italian]

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).

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Adult
  • Child, Preschool
  • Facial Expression*
  • Female
  • Fingers / abnormalities*
  • Follicle Stimulating Hormone / blood
  • Genes, Recessive
  • Genetic Linkage
  • Growth Hormone / blood
  • Humans
  • Hydrocortisone / blood
  • Luteinizing Hormone / blood
  • Male
  • Scrotum / abnormalities*
  • Syndrome
  • Testosterone / blood
  • X Chromosome

Substances

  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • Growth Hormone
  • Hydrocortisone