What is Turner Syndrome?

Turner Syndrome (TS) is a genetic condition affecting females caused by complete or partial absence of one X chromosome (45,X or mosaic variations). It occurs in approximately 1 in 2,000-2,500 live female births.

Common Features in Childhood:

Growth:

• Short Stature: Most consistent feature (present in 95%); average adult height without treatment is 4'7" (143 cm)
• Growth delay begins prenatally or in early childhood

Physical Features (variable):

• Webbed neck, low hairline
• Broad chest with widely spaced nipples
• Low-set ears
• Swelling (lymphedema) of hands and feet in infancy
• Cubitus valgus (increased arm angle at elbow)
• Multiple pigmented nevi (moles)

Associated Medical Conditions:

• Cardiac: Bicuspid aortic valve (30%), coarctation of aorta (10%), aortic root dilation
• Renal: Horseshoe kidney, kidney malformations (30%)
• Hearing: Recurrent ear infections, progressive hearing loss
• Thyroid: Increased risk of hypothyroidism (Hashimoto's)
• Gonadal: Ovarian dysgenesis—most have streak ovaries and will not go through puberty spontaneously
• Learning: Normal intelligence but may have specific learning difficulties (math, spatial reasoning, attention)

Diagnosis:

• Karyotype: Chromosomal analysis confirms diagnosis
• May be diagnosed prenatally, in infancy (due to swelling/cardiac issues), or in childhood (short stature/delayed puberty)

Pediatric Management:

Growth Hormone Therapy:

• Started early (typically age 4-6) to maximize height gain
• Can add 3-4 inches (7-10 cm) to final adult height
• Continued until growth plates close

Puberty Induction (starting ~age 11-12):

• Low-dose estrogen to initiate puberty
• Gradual dose escalation over 2-3 years
• Add progestin once uterine lining develops
• Goals: normal breast development, bone health, psychosocial well-being

Multidisciplinary Care:

• Cardiology: Baseline echocardiogram, periodic monitoring
• Nephrology/Urology: Renal ultrasound
• ENT/Audiology: Hearing screens, PE tube placement if needed
• Endocrinology: Growth, puberty, thyroid monitoring
• Educational Support: Assess for learning needs

Fertility Considerations:

• Most girls with Turner Syndrome are infertile (ovarian failure)
• 5-10% with mosaic Turner may have spontaneous puberty and rare fertility
• Future options: egg donation, embryo adoption
• Fertility preservation (experimental) may be considered in young girls with evidence of ovarian function

Psychosocial Support:

Open communication about diagnosis, support groups, and addressing self-esteem are critical. Many girls and women with Turner Syndrome lead healthy, successful lives.