Described by Dr. Henry Turner in 1938 as manifested with short stature, webbed neck, cubitus Valgus and sexual infantilism. Grumbach used the term “gonadal dysgenesis” to describe the syndrome. Many girls may have distinctive characteristics, while some girls may show few.
Turner syndrome is a rare genetic condition that affects about 1 in 2,500 females and can result in various different complications. Cardiac abnormalities, infertility, short stature, hypertension, learning disabilities, skeletal problems, and autoimmune disorders are all common in women with Turner Syndrome.
(Image from University of Chicago Pediatrics Clerkship)
Genetic basis of Turner Syndrome
Chromosomes are threadlike structures that carry information in our cells. Most women have two X chromosomes, but women with Turner syndrome are missing an X and thus have only 45 chromosomes total. The implications of this missing X chromosome are largely unknown. Patients can be mosaic, meaning they have some cells that are missing the X chromosome while others are not. Furthermore, there are other structures the chromosomes can also take that result in Turner syndrome. Lastly, there also could be Y material present in a woman’s cells. These various different karyotypes may result in different measures taken by physicians.
Here is an example of a karyotype analysis. The doctor may choose to run this test in order to visualise chromosomes and make a Turner syndrome diagnosis.
(Image from Medical News)
Short stature is a consistent finding in Turner syndrome, the cause of which is multifactorial, including intrauterine growth retardation, gradual decline in height velocity in childhood, absence of pubertal growth spurt and to end organ resistance resulting from skeletal dysplasia. Patients with Turner syndrome may have abnormal body proportions characterized by markedly shortened lower extremities. The ultimate height range is between 55 to 58 inches. Familial height may play a role in determining the ultimate height in girls with Turner syndrome, as it does in girls without Turner syndrome.
Renal (kidney) anomalies occur in 1/3 to 1/2 of girls with Turner syndrome with monosomic patients at great risk. The most common anomaly is a horse shoe shaped kidney. There is an increased frequency for chronic lymphocytic thyroiditis and diabetes or carbohydrate intolerance. Patients with Turner syndrome are prone to keloid formation. The prevalence of mental retardation appears to be no greater than that in general population. However, many patients have a specific deficit in special ability and frequently exhibit gross and fine motor dysfunction. The bone age is retarded along with shortening of the fourth metacarpal bone. Osteoporosis may also be seen.
What is Turner Syndrome?
Turner Syndrome Guidelines
Management of Turner Syndrome
Turner Syndrome Resource Guide
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.
Growth Hormone Deficiency
Growth hormone (GH) is a protein made by the pituitary gland and released into the blood in brief pulses. The major way that GH promotes growth is by increasing levels of the hormone, insulin-like growth factor-1 (IGF-1), and its carrier protein, IGF binding protein-3 (IGFBP-3), in the blood.
Optic Nerve Hypoplasia
A child with the Syndrome of Optic Nerve Hypoplasia, also known as Septo Optic Dysplasia or DeMorsiers Syndrome, has under-developed optic nerves. The optic nerves carry messages from the eye to the brain. ONH is the single leading cause of blindness in infants and toddlers.
Russell Silver Syndrome
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure.
Small for Gestational Age
SGA (small for gestational age) generally describes any infant whose birth weight and/or birth length was less than the 3rd percentile, adjusted for prematurity (gestational age). Between 3% and 10% of live births each year are diagnosed as SGA.
Turner’s Syndrome occurs in 1 in 2,500 live female births. Approximately 98% of pregnancies with Turner’s Syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner’s Syndrome.
Connect with us!
We have created a Facebook page called Omkar’s Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.
➤ Step 1: Search for the group page on Facebook.
➤ Step 2: Please request to join.
➤ Step 3: Send a message to the Admin or an email to
[email protected] and let us know why you are interested in joining this group.