Treatment for Patients with Disorders of Growth - Short Stature, Tall Stature, Chromosomal and Genetic Disorders

Every cell in the human body contains 23 pairs of chromosomes, with one set of 23 inherited from each parent. Each chromosome is made up of an estimated 2,000 genes, which equates to a total of 50,000 genes in each cell. These genes produce all the proteins in the body, which promote development and growth, and carry out the body’s functions.

When one or more of these genes or chromosomes are missing or mutated, or if extra chromosomes are present, genetic disorders can occur. When a child is born with an inherited disorder, the first thing most parents ask is if it was preventable. Chromosomal and genetic disorders are among the most complex in all of medicine. Although much progress has been made in uncovering the exact cause and developing efficacious treatments for these disorders, they cannot be prevented.

We are dedicated to helping your child live as healthy a life as possible, utilising advanced treatments for a wide array of genetic disorders. Below are some of the conditions we treat at Health City Cayman Islands:

Growth Hormone Deficiency (GHD)/ Short Stature
This disorder is tied to mutations in one of at least three genes and affects an estimated one in 4,000 to 10,000 people worldwide. GHD occurs when a person’s pituitary gland does not produce enough growth hormone, a protein that is necessary for the normal growth of the body’s bones and tissues. When children do not have enough of this hormone, they commonly experience a failure to grow at the expected rate and have unusually short stature.  Most spectacular results are obtained with treatment of growth hormone in growth hormone deficient children.

Other genetic diseases including congenital adrenal hyperplasia, Prader-Willi syndrome, Turner syndrome and Noonan syndrome can also result in short stature. These children are usually treated with growth hormone until they reach puberty, although some may receive treatment throughout life.

Congenital Adrenal Hyperplasia (CAH)
This is a group of rare inherited autosomal recessive disorders that result from any of seven gene deletions or mutations. The most common form of CAH, 21 hydroxylase deficiency, affects an estimated one in 10,000 to 15,000 people in the U.S. and Europe, although it is more common in certain populations. CAH affects the adrenal glands, and is characterized by a deficiency of one of the enzymes needed to make specific hormones.

All people with CAH have abnormally enlarged adrenal glands that produce excessive amounts of androgens (male steroid hormones). This causes abnormal sexual development in females, resulting in external genitalia that can have male characteristics. Males with this type of CAH do not have ambiguous genitalia. Without proper diagnosis and treatment, there will be an onset of other symptoms in both males and females including early onset of puberty, fast body growth, and premature completion of growth leading to short stature.

Down Syndrome
This is a widely-known genetic disorder in which babies are born with a full or partial extra copy of chromosome 21. The estimated worldwide incidence is one in 1,000 to 1,100 live births, but in the U.S. is higher, with about one in 690 births. The prevalence is greater in women who have children when they are older, with about 80% of all cases in women age 35 and older. The syndrome causes developmental and intellectual delays, and common physical traits such as low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the centre of the palm.

There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation, and mosaicism, with trisomy accounting for 95% of all cases. About 50% of all affected children are born with a congenital heart defect.  The frequency of thyroid disease is elevated in patients with Down syndrome.

Noonan Syndrome
This is an autosomal dominant genetic disorder that is congenital, caused by abnormalities in several genes. It affects an estimated one in 1,000 to 2,500 people, with males affected more frequently than females. It is characterized by a wide range of symptoms and physical features that vary greatly in range and severity.

These include a distinctive facial appearance, a broad or webbed neck, a low back hairline, a distinctive chest deformity, and short stature. Patients may have widely set eyes, skin folds that may cover the eyes’ inner corners, drooping of the upper eyelids, a small jaw, a depressed nasal root and short nose with broad base, and low-set ears that rotate towards the back. Distinctive skeletal malformations also typically affect the breastbone, spine, and elbows. Many infants have heart defects, such as pulmonary valvular stenosis and hypertrophic cardiomyopathy. Symptoms are treated individually with a multidisciplinary approach.

Prader-Willi Syndrome (PWS)
This is a complex genetic disorder affecting chromosome 15 and is the most common known genetic cause of life-threatening obesity in children. Most estimates place the incidence between one in 10,000 to 30,000 people worldwide with no gender or geographic disparities. The symptoms include low muscle tone, short stature, incomplete sexual development, cognitive disabilities, behavioural problems, and chronic feelings of hunger.

Children with PWS have a growth hormone insufficiency, a condition characterized by the inadequate secretion of growth hormone from the anterior pituitary gland. Treatment depends on the severity and range of symptoms and includes multidisciplinary care – including behavioural therapy, hormone replacement medication and special education.  A well-balanced, low-calorie diet and regular exercise are essential and must be maintained for the rest of the individual’s life.

Turner Syndrome
This is a rare chromosomal growth disorder that affects only females, caused by partial or complete loss (monosomy) of one of the X chromosomes. It affects an estimated one in 2,000 to 2,500 live female births. Turner syndrome is highly variable and can affect each person quite differently.

Symptoms can include short stature, premature ovarian failure, which can result in the failure to attain puberty, and infertility. Additional symptoms are abnormalities of the eyes and ears, skeletal malformations, and heart and kidney abnormalities. Intelligence is usually normal, but affected individuals may experience specific learning disabilities. Symptoms are treated individually with a multidisciplinary approach.

Russell Silver Syndrome
This is an extremely rare disorder resulting from several different genetic causes, with a majority tied to a child inheriting two chromosome 7s from the mother instead of one from each parent, and abnormalities at an imprinted region on a portion of chromosome 11. About 40% of cases have an unknown underlying genetic defect. The incidence is estimated at one in 3,000 to 100,000 live births, although some researchers believe the incidence rate is closer to one in 75,000 to 100,000 live births.

The disorder is characterized by intrauterine growth retardation, postnatal growth deficiency, a small number of common physical characteristics, and a range of other symptoms. Management consists of early intervention including physiotherapy, growth hormone injections if needed during puberty, and special education.

Osteogenesis Imperfecta (OI)
This is a group of rare disorders affecting the connective tissue, inherited as autosomal dominant traits that result from a spontaneous genetic change (i.e., new mutation). The disorder is characterized by extremely fragile, brittle bones that break or fracture easily, often for no apparent reason. Four main types of OI have been identified, with OI type I the most common, mildest form of the disease, and OI type II the most severe. OI type I affects an estimated one in 30,000 live births.

OI fractures typically begin when the child starts walking, with the frequency of fractures generally declining after puberty. A distinguishing feature associated with OI type I is bluish discoloration of the whites of the eyes, and some children may develop abnormalities affecting the middle and/or inner ears resulting in some degree of hearing impairment. The primary goal of treatment is to prevent or control the symptoms, maximize independent mobility, and develop optimal bone mass and muscle strength.

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