Diagnosis
Definition:
H&P:
Common presentation: 13 yo Female with primary amenorrhea. PE shows short stature, low hairline, webbed neck, and no pubertal development.
“Turner syndrome is a chromosomal disorder that affects development in females. It results when a female’s cells have one normal X chromosome and the other X chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell). Signs and symptoms may include short stature, premature ovarian failure, a “webbed” neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant” nih.gov
https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome
https://ghr.nlm.nih.gov/condition/turner-syndrome