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Turner Syndrome (TS) Is a Genetic Disease That Affects About Physical Signs of TS May Include: 1 in Every 2,500 Female Live Births

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Turner Syndrome (TS) Is a Genetic Disease That Affects About Physical Signs of TS May Include: 1 in Every 2,500 Female Live Births Notes: A Guide for Caregivers For easily accessible answers, education, and support, visit Nutropin.com or call 1-866-NUTROPIN (1-866-688-7674). 18 19 of patients with Your healthcare team is your primary source Turner Syndrome of information about your child’s treatment. Please see the accompanying full Prescribing Information, including Instructions for Use, and additional Important Safety Information througout and on pages 16-18. Models used for illustrative purposes only. Nutropin, Nutropin AQ, and NuSpin are registered trademarks, Nutropin GPS is a trademark, and NuAccess is a service mark of Genentech, Inc. © 2020 Genentech USA, Inc., 1 DNA Way, So. San Francisco, CA 94080 M-US-00005837(v1.0) 06/20 FPO Understanding Turner Syndrome What is Turner Syndrome? Turner Syndrome (TS) is a genetic disease that affects about Physical signs of TS may include: 1 in every 2,500 female live births. TS occurs when one • Short stature of a girl’s two X chromosomes is absent or incomplete. • Webbing of the neck Chromosomes are found in all cells of the human body. They contain the genes that determine the characteristics of a • Low-set, rotated ears person such as the color of hair or eyes. Every person has • Arms that turn out slightly at the elbows 22 pairs of chromosomes containing these characteristics, • Low hairline at the back of the head and one pair of sex chromosomes. • A high, arched palate in the mouth Normally cells in a female’s body contain two “X” chromosomes Biological signs of TS may include: (Fig. 1). • Underdevelopment of the ovaries In girls with TS, part or • Not reaching sexual maturity or starting all of one X chromosome a menstrual period (Fig. 2) is missing in some or all cells of their • Infertility 02 03 body. This abnormality Fig. 1. Two X chromosomes • Joint and bone problems can cause characteristic • Thyroid problems features; some girls have many of these features • Abnormal swelling while others have only • Kidney problems some. The most common • Heart problems features are short stature and premature • Repeated ear infections ovarian failure. The most common feature of TS, short stature, affects nearly 100% of girls with TS. That’s because Fig. 2. One X chromosome the missing or incomplete X chromosome contains a gene that helps girls grow to a normal height. From birth through their teen years, girls with TS grow more slowly than unaffected children. In fact, the average adult height of women with TS is about 4’8” while unaffected women average about 5’4”. Your healthcare team is your primary source of information about your child’s treatment. WELD GLUE Diagnosis and short stature in TS TS may be diagnosed in utero by ultrasound or by a blood test called a karyotype, which examines the chromosome makeup. The diagnosis of TS may be suspected in any young girl who is short for her age and there is no other reason for short stature. Any female adolescent who does not begin puberty at a normal age may also be evaluated for TS. Since TS may affect girls in many ways, early diagnosis is important. Your daughter may require evaluation and/or treatment from several specialists. One such specialist is called a pediatric endocrinologist— a doctor who studies hormone production and growth. Your pediatric endocrinologist can tell you about therapies that may help with some of the conditions associated with TS. 04 05 Your healthcare team is your primary source of information about your child’s treatment. Treatment options for growth failure associated with TS For many families, growth failure is recognized when their daughter’s classmates seem to be growing faster Girls with TS should be evaluated than she is. As girls reach their teens, TS can also for the following: prevent them from going through puberty. • Ear and hearing problems Back in the 1930s, when Dr. Henry Turner fi rst described • Cardiovascular disorders such as aortic dissection, the condition, there were no treatments for growth stroke, aortic aneurysm, or high blood pressure failure associated with TS. Today, there are treatments • Scoliosis for girls born with TS that may help manage the problems associated with it. • Kidney abnormalities such as a horseshoe- shaped kidney Girls with TS may be treated with: • Growth hormone (GH) therapy —May be prescribed by your healthcare professional Girls with TS should have their height when growth failure becomes evident checked regularly and plotted on a TS-modifi ed growth chart. • Estrogen replacement therapy to help promote puberty 06 — Some girls with TS may not begin puberty, while 07 others may show some signs. Most will need estrogen replacement therapy. Estrogen is needed for feminine development and healthy bones. It is important for you to discuss puberty and estrogen replacement with your healthcare team Your healthcare team is your primary source of information about your child’s treatment. What is growth hormone? Growth hormone (GH) is a naturally occurring chemical messenger that helps the body grow. • GH is a protein made in the pituitary gland, located below the brain • It plays a role in how food is used by the body • GH also tells the liver to produce a hormone called insulin-like growth factor, or IGF • IGF travels to muscles, organs, and bones and tells the bones to grow. It also helps improve muscle metabolism How GH therapy works The form of GH used as a medication is equal to the GH your daughter makes naturally in her own body. Since your daughter may not make enough GH on her own, she may need additional GH to help her get closer to reaching her growth potential. With GH therapy, the level of GH in the body increases, 08 and this triggers an increase in the level of IGF. Working 09 together, GH and IGF help bones, muscles, and organs grow. Your healthcare team is your primary source of information about your child’s treatment. Nutropin AQ®: A treatment option Nutropin AQ® (somatropin) injection, for subcutaneous • Children who have Prader-Willi syndrome (PWS) and use is human growth hormone that is available by are very overweight or have a history of severe breathing prescription only in a disposable pen called NuSpin®. problems. Deaths have been reported in children with PWS who are very overweight, have a history of blocked Who is Nutropin AQ therapy for? upper airways, sleep apnea (pauses in breathing during Doctors prescribe Nutropin AQ therapy for children sleeping), or other severe breathing problems and teenagers who are short or growing slowly because • Patients who have active cancer. Because growth they have Turner syndrome. hormone defi ciency can be an early sign of some For most girls with TS, one part of treatment may mean tumors in the brain or pituitary gland, the presence of taking regular GH injections under the ongoing supervision these types of tumors should be ruled out by your of a healthcare professional (HCP). Treatment continues until doctor before you start Nutropin therapy growth stops or the HCP determines that GH therapy • Patients who are allergic to somatropin, the active should end. ingredient in Nutropin therapy, or the inactive ingredients in Nutropin therapy Select Important • Adults or children with certain types of eye disease Safety Information caused by diabetes 10 Nutropin therapy and your safety: • Children and teenagers whose bones have fi nished 11 Please read this Important Safety Information carefully. growing Then, if you have any questions, talk with your doctor. What should you tell your doctor before starting Nutropin therapy is NOT for: Nutropin therapy? • Patients having serious complications after undergoing open • If you take cyclosporine, hormone replacement heart surgery, abdominal surgery, serious injuries involving therapy, insulin or other diabetes medications, many body systems, or life-threatening breathing problems. drugs containing steroids, or drugs for seizures. Deaths have been reported in such cases These medications may need to be adjusted during Nutropin therapy • If you had cancer as a child. An increased risk of a new tumor, particularly certain brain tumors, has Your healthcare team is your primary source been reported in patients taking Nutropin therapy. of information about your child’s treatment. If you have pre-existing tumors or growth hormone Please see the accompanying full Prescribing Information, defi ciency caused by abnormal tissue in the brain, including Instructions for Use, and additional Important you should be watched closely for the worsening or Safety Information througout and on pages 16-18. return of this condition Using NuSpin® Designed to be simple Helping your daughter get the full dose of Nutropin AQ—because every dose is an opportunity taken. How Nutropin AQ is given Because it is a protein, Nutropin AQ must be given by injection. If the medication were taken by mouth, it would be broken down by digestion in the stomach and intestines and would never get to the rest of the body to do its job. Nutropin AQ is injected into the fatty layer under Nutropin AQ NuSpin is a disposable, multidose, dial- the skin (the subcutaneous tissue). a-dose injection device prefi lled with Nutropin AQ for Be sure to inject Nutropin AQ at a different subcutaneous use. NuSpin devices are designed to be recommended place on your body each time. simple to use. Your HCP should supervise the fi rst injection and • Each device is prefi lled provide training and instruction. • No need to mix or attach cartridge • Dosing wheel can be dialed backward and forward Select Important • Two ways to confi rm an accurate dose: the spinning 12 dose knob and the dose window Safety Information (continued) 13 What should you tell your doctor before starting • Slide activator for priming and injection Nutropin therapy? • Each device needs to be primed once at fi rst use only • If you have diabetes, risk factors for diabetes, or impaired Dosing options to fi t individual needs glucose tolerance.
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