TURNER SYNDROME (GONADAL DYSGENESIS)

TURNER SYNDROME (GONADAL DYSGENESIS)

This was named after Henry Turner, it’s a chromosomal abnormality in which parts or all of the chromosomes is absence in a cell or have other abnormalities.

The condition occurs in female where they have (45X) of which Monosomy X, is absent or some part of it missing.

Normally, unaffected individuals have 46 chromosomes of which two are sex chromosomes.

The Syndrome Manifest itself in several ways, there are characteristics physical features which affects many but not all people with Turner Syndrome, short stature, swellings, low hairlines, lower set ears, and webbed neck.

Girls with this condition have none functional ovaries (Gonadal Dysfunction) which results in Amenorrhea, (absence of the menses and sterility).

Turner Syndrome, exist alone with some health conditions such as

a.     Congenital heart disease

b.    Hypothyroidism

c.     Diabetes

d.    Congenital dysfunction

e.     Hearing problem

f.      Autoimmune disease

g.     Amenorrhea

h.    Increased weight ( Obesity)

i.       Shield shaped s thorax of heart

j.       Short metacarpal and finger nails

k.    Facial features and webbed neck.

            CAUSES OF TURNER SYNDROME

This condition is usually caused by the absence of X chromosome in some or all of the cells.

DIAGNOSIS

Amniocentesis

Chorionic sampling during pregnancy

Ultra sounds which show abnormalities eg, heart defect, abnormal cystic hygroma(cystic swelling containing fluid) and ascites(Severe accumulation of fluid in the peritoneal cavity).