Schereshevskij Turner

Schereshevskij-Turner Syndrome

Schereshevskij-Turner Syndrome, commonly known as Turner Syndrome, is a chromosomal disorder that affects females. It is characterized by the partial or complete absence of one of the two X chromosomes. This condition was first described by Dr. Nikolai Schereshevsky in 1925 and later by Dr. Henry Turner in 1938, hence the name Schereshevskij-Turner Syndrome.

Etiology

Turner Syndrome occurs due to a chromosomal anomaly where one of the X chromosomes is missing or structurally altered. This can happen in several ways:

• Monosomy X (45,X): The most common form, where an entire X chromosome is missing.
• Mosaicism (45,X/46,XX or 45,X/46,XY): Some cells have two X chromosomes, while others have only one.
• Partial Deletion of the X Chromosome: Only a part of one X chromosome is missing.

Clinical Features

Individuals with Turner Syndrome may exhibit a variety of clinical features, including:

• Short Stature: Most individuals with Turner Syndrome have a significantly shorter stature than their peers.
• Gonadal Dysgenesis: Underdeveloped ovaries leading to infertility.
• Webbed Neck: A characteristic feature due to lymphedema in infancy.
• Cardiovascular Abnormalities: Such as bicuspid aortic valve and coarctation of the aorta.
• Renal Malformations: Including horseshoe kidney.
• Endocrine Disorders: Such as hypothyroidism and diabetes mellitus.

Diagnosis

Diagnosis of Turner Syndrome is typically confirmed through a karyotype analysis, which reveals the chromosomal composition of the individual. Prenatal diagnosis can also be performed using amniocentesis or chorionic villus sampling.

Management

Management of Turner Syndrome involves a multidisciplinary approach:

• Growth Hormone Therapy: To increase height during childhood.
• Estrogen Replacement Therapy: To induce the development of secondary sexual characteristics and maintain bone health.
• Regular Monitoring: For cardiovascular, renal, and endocrine complications.
• Psychosocial Support: To address any learning difficulties or social challenges.

Prognosis

With appropriate medical care and monitoring, individuals with Turner Syndrome can lead healthy and productive lives. However, they may face challenges related to infertility and certain health complications.

Also see

• Klinefelter Syndrome
• Noonan Syndrome
• Chromosomal Disorders
• Endocrinology