Turner Syndrome: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Noonan syndrome – genetic disorder with autosomal recessive or autosomal dominant inheritance that resembles the symptoms of Turner syndrome (short stature, pulmonary stenosis, or other congenital heart defects; Low-set or large ears, ptosis (visible drooping of an upper eyelid), epicanthal fold (“Mongolian fold”), cubitus valgus (abnormal position of the elbow with increased radial deviation of the forearm from the upper arm)).
  • Poland syndrome – absence of a pectoral muscle and malformation of the ipsilateral mammary gland.
  • Trisomy 13 (Patau syndrome; synonyms: Patau syndrome, Bartholin-Patau syndrome, D1 trisomy) – triplication of chromosome 13.
  • Trisomy 18 (Edwards syndrome; synonyms: E1 trisomy, trisomy E) – triplication of chromosome 18.
  • Trisomy 21 (Down syndrome) – special genomic mutation in humans in which the entire 21st chromosome or parts of it are present in triplicate (trisomy). In addition to physical characteristics considered typical for this syndrome, the cognitive abilities of the affected person are usually impaired.
  • Zellweger syndrome (cerebral-hepatic-renal syndrome, cerebro-hepato-renal syndrome) – genetic metabolic disease with autosomal recessive inheritance, characterized by the absence of peroxisomes; Syndrome with malformations of the brain, kidneys (multicystic kidney dysplasia), heart (especially ventricular septal defects), and hepatomegaly (enlargement of the liver); severe cognitive disability.

Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).

  • Idiopathic primary amenorrhea – no menstrual bleeding.