XO syndrome or Turner syndrome or Ulrich Turner syndrome is also known as gonadal dysgenesis is a group of conditions in which X chromosome shows monosomy or in other words one X chromosome is entirely deleted or may be partly deleted. It is a type of chromosomal disorder in which sex chromosomes are affected.

 

Normal human beings have 46 and two sex chromosomes but in these females affected with turner syndrome one of the sex chromosomes is missing or has other abnormalities. If some cells show the normal chromosomal pattern while others are abnormal the pattern is known as mosaicism. In few thousands only one girl is affected and shows many physical abnormalities like short stature, swelling, broad chest, low hairline, low set ears, and webbed neck. Gonadal dysfunction is the common finding which leads to amenorrhea and sterility. Other abnormalities include congenital heart disease, diabetes, and vision problem, hearing problems, hypothyroidism and some autoimmune diseases. More than 90% of fetus having turner syndrome result in miscarriage and spontaneous abortions.

 

 

 

Signs and Symptoms

• Short stature
• Broad chest
• Widely spaced nipples
• Low hairline
• Low set ears
• Sterility
• Underdeveloped gonads
• Amenorrhea
• Obesity
• Small nails
• Typical facial features
• Webbed neck 
• Coarctation of the aorta
• Poor breast development
• Horseshoe kidney
• Visual impairments 
• Frequent Ear infections
• Hearing loss
• Micrognathia
• Cubitus valgus 
• Palmar crease
• Drooping eyelids
• Pigmented moles
• High-arch palate
• Swelling of the hands and feet due to Lymphedema

Risk factors

• Increasing maternal age
• genetic predisposition

Diagnosis

• Amniocentesis
• Abnormal ultrasound findings like heart defect, kidney abnormality, cystic hygroma, ascites
• Karyotype or chromosome analysis is gold standard for diagnosis

Treatment

Treatment aims at reducing symptoms

 

• Growth hormone increases growth
• Estrogen replacement therapy for development of secondary sexual characteristics and for bone integrity and tissue health
• Donor egg facility is used for the women who want to become pregnant