What are the signs and symptoms of Turner syndrome?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Patients with Turner syndrome may present with a cystic hygroma on a fetal ultrasound [8] or may have swollen hands and feet owing to lymphedema at birth.

Children usually present with short stature, but some girls younger than 11 years have heights within the normal range for girls without Turner syndrome. [3] Although the presence of other features may increase the index of suspicion, a karyotype is indicated in any girl with unexplained short stature.

In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. Adrenarche, the beginning of pubic hair growth, occurs at a normal age and is not an indication that puberty will progress normally. Breast development is absent when ovarian failure occurs before puberty, but pubic hair growth is normal. Up to 13% of girls with Turner syndrome have spontaneous breast development [30] or menses; some of these are XO/XX mosaics, with normal gonadotropin responses to luteinizing hormone–releasing hormone (LHRH). [31] Diagnosis should be considered in individuals with primary [32] or secondary amenorrhea and in adult women with unexplained infertility, particularly when such individuals also are short in stature.

Approximately 30% of girls with Turner syndrome have some spontaneous pubertal development.

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