The MAGIC Foundation India
Turner Syndrome

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.

Frequency - Genetics 

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.

The syndrome represents a wide spectrum of clinical presentation, the most common of which is the classic Turner's Syndrome with 45 XO karyotype, less common the Mosaic Turner's Syndrome with Mosaic sex chromosome Karyotypes 45, X/46, XX, 45, X/46, XY.


Growth Patterns

Short stature is almost a consistent finding in Turner's 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's 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's Syndrome.


Characteristics

Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples. Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta. Echocardiographic studies however, showed non stenotic bicuspid aorta valve might be the most common cardiovascular lesion in Turner's Syndrome.

Renal anomalies occur in 1/3 to 1/2 of girls with Turner's Syndrome with monosomic patients at great risk. The most common anomaly is a horse shoe kidney. There is an increased frequency for chronic lymphocytic thyroiditis and diabetes mellitus or carbohydrate intolerance. Patients with Turner's 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.


Puberty

Normal pubertal development and spontaneous menstrual periods do not occur in the majority of children with Turner's Syndrome. Mosaic forms of gonadal dysgenesis are seen in female adolescents with primary amenorrhea and in young women with premature ovarian failure. It is estimated however, that 3 to 8% of 45X Karyotype patients and 12 to 21% of females with sex chromosome mosaicism may have normal pubertal development and spontaneous menstrual periods. Pregnancies have occurred in patients with 45X and 45, X/46XX Karyotypes.

Gonadal dysgenesis should be entertained in all short girls, girls with unexpected primary or secondary amenorrhea and girls with lymphedema. Chromosome Karyotyping and serum gonadotropin determination are indicated in the workup of suspected patients. Cardiac and renal evaluation is indicated if the diagnosis of Turner's Syndrome is confirmed.

Different modalities of therapy are available, including low dose estrogen therapy, anabolic steroids, growth hormone alone or in combination with androgens or estrogens.

Most patients with Turner's Syndrome will require substitution of female hormone therapy for development of secondary sexual characteristics and menstruation. The time of initiation of therapy varies with each patient and it is recommended that therapy begin when the patient expresses concern about the onset of puberty. Various estrogenic and progestational agents and schedules have been used. The response to growth hormone therapy varies from patient to patient.

A suitable course of therapy consists of oral estrogen for 6 to 12 months or until menstruation occurs, therefore, the estrogen can be given on the 1st 25 days of each calendar month. Withdrawal bleeding usually occurs 3 to 5 days after the estrogen therapy is stopped. Oral progestational agents should be given from the 15th to 25th day of each month to improve breast development, cause coiling of the glands of the endometrium and increase the vascularity of the stroma. All patients on long term exogenous female hormone therapy require periodic gynecological examinations, as patients with Turner's Syndrome have an increased risk of developing neoplasms arising from the rudimentary streak gonads, including gonadoblastoma and dysgerminoma.

Dr. Erica Eugster discusses Turner Syndrome Part 1

Dr. Erica Eugster
Pediatric Endocrinologist 
Clinical Associate Professor
Riley Hospital for Children
Indianapolis, Indiana 

Dr. Erica Eugster discusses Turner Syndrome Part 2

Dr. Erica Eugster
Pediatric Endocrinologist 
Clinical Associate Professor
Riley Hospital for Children
Indianapolis, Indiana 

A Conversation with Jessica 

An interview with an Turner Syndrome child presented by The MAGIC Foundation.

 A Conversation with Peyton 

Interview with a family impacted by Turner Syndrome presented by The MAGIC Foundation.

Additional Information

For further information concerning Turner's Syndrome, please contact an endocrinologist. 


Contributing Medical Specialist

Amid Habib, M.D., F.A.A.P.
Pediatric Endocrinology Diplomat, American Board of Pediatrics and Pediatric Endocrinology
Altamonte Springs, Florida
Chairman, The MAGIC Foundation Medical Advisory Committee

The MAGIC Foundation India: September 20th - Children's Growth Awareness Day

Growth Awareness Day

September 20th is Children's Growth
Awareness Day.

The MAGIC Foundation India will be conducting several awareness programmes on Growth Awareness.

Growth Disorders In Children

Children fail to grow for a variety of reasons. Hormones, genetics, sleep, nutrition, general health and exercise are all factors for normal growth. If you suspect that your child is not growing normally, you are in the right place!

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.

READ MORE

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.

READ MORE

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.

READ MORE

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.

READ MORE 

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.

READ MORE

Turner Syndrome

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.

READ MORE

Do get in touch with us at info@magicfoundation-india.org for any queries or clarifications.

We will be only too glad to be of help.

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.

CLICK HERE

The MAGIC Foundation India on Facebook

The MAGIC Foundation India group on Facebook is a closed group and is for discussion and sharing of information to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth.  This is a safe place for parents to exchange and seek information that might help them deal with the problem. Note that posts which are not relevant to disorders, syndromes and diseases that affect a child's growth and which are advertisements for sales of products, services or groups will be deleted and the person posting the message will be removed from the group without notice. If you wish to join this group:

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