Turner's syndrome

Turner Syndrome Care in Grand Rapids, Michigan

Turner syndrome is a random genetic condition that affects females and can impact growth, puberty, fertility, and several body systems. In Grand Rapids, MI, girls and women with Turner syndrome can receive high‑quality, coordinated care through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, University of Michigan Health–West (Metro Health), and Mercy Health, as well as support from local public health resources.

What Is Turner Syndrome?

Turner syndrome (also called monosomy X, 45,X, or Ullrich–Turner syndrome) occurs when all or part of one of the X chromosomes is missing or abnormal in a female.

Normally, females have two X chromosomes (46,XX).
In Turner syndrome, one X chromosome is missing, partially missing, or structurally altered.

This change in genetic material leads to a range of features and health issues. The severity can vary greatly from one person to another.

Turner syndrome affects about 1 in 2,000 live-born girls. However, many affected pregnancies end in miscarriage, so the condition is more common in pregnancies than among live births.

Key Features of Turner Syndrome

Main Characteristics

The most common features of Turner syndrome include:

Short stature
- Adult height is often around 4'8" (143 cm) without growth hormone treatment.
Infertility
- Due to underdeveloped ovaries and early loss of eggs (premature ovarian failure).

Other Possible Signs and Symptoms

Not every girl or woman with Turner syndrome will have all of these features, but common findings include:

Heart and blood vessel issues
- Congenital heart defects (present in about 50% of affected females)
- Narrowing of the aorta (coarctation of the aorta)
Reproductive and hormonal issues
- Failure of the ovaries to develop normally
- Absence of menstruation (amenorrhea)
- Delayed or absent puberty without hormone therapy
Growth and physical features
- Short neck, sometimes with extra skin folds (“webbed” neck)
- Low hairline at the back of the neck
- Broad, sunken chest with widely spaced nipples
- Puffy hands and feet, especially at birth
- Inability to fully straighten the elbows
- Small, soft, or upturned nails
- Multiple pigmented moles on the skin
Hearing and ear problems
- Frequent middle ear infections (otitis media)
- Increased risk of hearing loss over time
Learning and spatial skills
- Normal intelligence is typical
- Some may have difficulties with:
  - Math
  - Spatial awareness (e.g., reading maps, judging distances)
  - Visual–motor tasks

Because symptoms can be subtle, some girls in Grand Rapids are not diagnosed until late childhood, adolescence, or even adulthood, often during evaluation for short stature or infertility.

How Turner Syndrome Affects the Body

Chromosomes and Genes

Humans typically have 46 chromosomes in each cell:

2 sex chromosomes (XX for females, XY for males)
44 non-sex chromosomes that influence other body traits

In Turner syndrome:

One X chromosome is completely missing (45,X), or
Portions of the X chromosome are missing or rearranged, or
Some cells have 45,X and others are normal (a pattern called mosaicism).

The missing genes on the X chromosome are responsible for many of the features of Turner syndrome, including short stature and ovarian failure. Researchers are still learning exactly how specific missing genes lead to specific medical problems.

Health Complications to Watch For

Girls and women with Turner syndrome benefit from regular, comprehensive medical follow-up. In Grand Rapids, pediatric and adult endocrinologists, cardiologists, and fertility specialists work together to monitor and manage these issues.

Heart and Blood Vessel Problems

Congenital heart defects
- Such as bicuspid aortic valve or coarctation of the aorta
- Some may improve on their own; others require surgery or procedures at regional centers like Helen DeVos Children’s Hospital (part of Corewell Health) or cardiology programs at Trinity Health Grand Rapids.
High blood pressure (hypertension)
- More common in teens and adults with Turner syndrome
- May be related to heart or kidney issues—or have no clear cause
- Requires ongoing monitoring, especially in Michigan winters when physical activity may drop and blood pressure can rise.

Ear, Nose, and Throat (ENT) and Hearing

Frequent middle ear infections (otitis media)
- Due to narrower ear tubes
- Can lead to chronic ear problems and hearing loss if not treated
Hearing loss
- Can be due to repeated infections or nerve-related hearing loss over time
- Regular hearing checks with an audiologist are important.

Kidney and Urinary System

Kidney structure differences
- Found on ultrasound in some girls
- Often do not affect kidney function but should be monitored

Hormones, Thyroid, and Metabolism

Thyroid disorders
- Increased risk of hypothyroidism (underactive thyroid)
Diabetes and metabolic issues
- Higher risk of type 2 diabetes
- Weight management, heart-healthy diet, and regular exercise are especially important in West Michigan, where long winters can limit outdoor activity.

Reproductive Health and Fertility

Ovarian failure and premature menopause
- Ovaries often do not develop normally and stop working early
- Most girls will not go through puberty on their own without hormone replacement therapy (HRT).
Infertility
- Many women with Turner syndrome are infertile
- A small percentage (about 5–10%) may menstruate naturally
- Some may be candidates for assisted reproductive technologies, such as IVF with donor eggs, under close medical supervision.

Diagnosis of Turner Syndrome

Turner syndrome can be diagnosed at different stages of life:

Before Birth (Prenatal Diagnosis)

Ultrasound findings
- Such as fluid buildup (cystic hygroma) or heart defects
Genetic testing
- Amniocentesis
- Chorionic villus sampling (CVS)

These tests can confirm the diagnosis by analyzing the baby’s chromosomes.

At Birth or in Early Childhood

Doctors in Grand Rapids may suspect Turner syndrome based on:

Short stature or slow growth compared with peers
Puffy hands and feet
Webbed neck or low hairline
Heart murmur or known heart defect

During School Years or Adolescence

Diagnosis may occur when:

A girl is much shorter than classmates
Puberty is delayed or does not start
Menstruation does not occur (primary amenorrhea)

In Adulthood

Some women are diagnosed later, often during:

Evaluation for infertility
Workup for high blood pressure, heart issues, or unexplained health findings

Diagnostic Tests

To confirm Turner syndrome, healthcare providers may use:

Detailed medical and family history
Physical examination
Blood tests and hormone level checks
Chromosome analysis (karyotype) – the key test that shows the number and structure of chromosomes
Imaging tests, such as:
- Echocardiogram or cardiac MRI (to check the heart and aorta)
- Kidney ultrasound
Hearing tests
Psychological or educational assessments, if learning or spatial issues are suspected

Treatment and Management in Grand Rapids

Turner syndrome is a lifelong condition, but with proper medical care and support, most girls and women can lead healthy, active, and productive lives.

In Grand Rapids, treatment is often coordinated through pediatric endocrinology and adult endocrine clinics at:

Corewell Health (Spectrum Health)
Trinity Health Grand Rapids
University of Michigan Health–West (Metro Health)
Mercy Health

Growth and Height

Growth hormone therapy
- Typically started in childhood
- Helps increase final adult height
- Requires regular injections and monitoring by an endocrinologist

Puberty and Hormone Replacement

Estrogen therapy
- Started around the age when puberty would normally begin
- Helps develop secondary sexual characteristics (breast development, body shape)
- Protects bone health and supports normal development
Progesterone
- Added later to regulate menstrual bleeding and protect the uterus

Heart, Kidney, and Blood Pressure Care

Regular follow-up with:
- Cardiologists for heart and aorta monitoring
- Nephrologists or primary care providers for kidney health
Ongoing blood pressure checks and treatment if needed

Hearing and ENT Care

Prompt treatment of ear infections
Regular hearing evaluations
Referral to ENT specialists if infections or hearing loss are recurrent

Metabolic and Thyroid Monitoring

Routine screening for:
- Thyroid function
- Blood sugar and cholesterol
Lifestyle counseling focused on:
- Healthy eating (especially important during long Michigan winters)
- Regular physical activity (indoor options during cold seasons)

Fertility and Reproductive Options

Counseling with reproductive endocrinologists and fertility specialists
Discussion of:
- Assisted reproductive technologies (e.g., IVF with donor eggs)
- Adoption or fostering
- Health risks of pregnancy (especially in women with heart or aorta issues)

Support for:
- Self-esteem and body image
- Social relationships
- School and learning challenges (especially math and spatial tasks)
Collaboration with school systems in the Grand Rapids Public Schools and surrounding districts for educational accommodations if needed.

Living With Turner Syndrome in Grand Rapids, MI

With modern care, most girls and women with Turner syndrome can:

Attend school and college
Work in a wide range of careers
Participate in sports and community activities
Build strong relationships and family lives

Because West Michigan experiences cold, snowy winters and humid summers, attention to:

Indoor exercise options
Heart-healthy nutrition
Preventive care (flu shots, vaccines, regular check-ups)

is especially important to maintain long-term health.

Local and National Resources

While phone numbers and specific programs change over time, the following resources are good starting points for support and information in the Grand Rapids area:

Local Medical and Public Health Resources

Corewell Health – Helen DeVos Children’s Hospital (Pediatric Endocrinology & Cardiology)
For growth, puberty, and heart evaluations in children.
Trinity Health Grand Rapids – Endocrinology and Cardiology Services
University of Michigan Health–West (Metro Health) – Endocrinology & Women’s Health
Mercy Health – Women’s Health and Primary Care
Kent County Health Department
Offers public health programs, immunizations, and health education.
Grand Rapids Public Health and Community Clinics
Provide primary care, screenings, and referrals.

National Support Organizations

Turner Syndrome Society of the United States (TSSUS)
Offers education, support groups, and advocacy.
Turner Syndrome Foundation
Provides patient education, webinars, and family resources.

Grand Rapids families can also connect with online and regional Turner syndrome support groups to share experiences and learn from others.

Key Points to Remember

Turner syndrome is a genetic condition affecting females, caused by a missing or abnormal X chromosome.
Short stature and infertility are the main characteristics, but heart, kidney, hearing, and hormonal issues are also common.
Many affected pregnancies end in miscarriage, so Turner syndrome is more common in pregnancies than among live births.
Missing genes on the X chromosome cause the features and health problems seen in Turner syndrome.
Hearing problems, often related to recurrent ear infections, are frequent and require monitoring.
With early diagnosis, growth hormone, hormone replacement therapy, and ongoing medical care, girls and women with Turner syndrome in Grand Rapids can live full, healthy lives.
Local health systems and public health resources in Grand Rapids provide strong support for comprehensive, long-term management.