Pediatr. praxi. 2014;15(4):222-224

Surprising diagnosis of a rare endocrine disease when examining a child for short stature

MUDr.Renata Pomahačová, Ph.D.¹, MUDr.Petra Paterová¹, MUDr.Ivan Šubrt, Ph.D.², MUDr.Radka Jaklová², RNDr.Petra Vohradská², MUDr.Eliška Hrdonková³

¹ Dětská klinika, Univerzita Karlova v Praze, LF v Plzni a FN Plzeň

² Ústav lékařské genetiky, Univerzita Karlova v Praze, LF v Plzni a FN Plzeň

Gynekologicko-porodnická klinika, Univerzita Karlova v Praze, LF v Plzni a FN Plzeň

We describe a case of a 9-year-old girl examined for short stature with growth below the 3rd percentile. As part of comprehensive examination

with regard to the family history of the incidence of complete androgen insensitivity syndrome (AIS – androgen insensitivity

syndrome) in a 33-year-old aunt, we indicated for our patient the cytogenetic examination, which revealed a chromosomally male. We

confirmed the complete androgen insensitivity syndrome with mutation in the gene for the androgen receptor locus on chromosome X.

The same mutation is presented in her 33-year-old aunt with AIS, and the mother and the grandmother of our patient who are transmitters

of the disease in the family. Subsequent cytogenetic examination of the patient’s younger sister also confirmed the diagnosis

of AIS. A prenatal diagnosis could have prevented births of children with AIS.

of the disease in the family.

Keywords: androgen insensitivity syndrome, androgen receptor, chromosome X, testicular dysgenesis, the risk od malignancy, carrier

Published: September 1, 2014  Show citation