Turner Syndrome Clinical Presentation

Updated: Jul 12, 2017
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Presentation

History

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 [24] or menses; some of these are XO/XX mosaics, with normal gonadotropin responses to luteinizing hormone–releasing hormone (LHRH). [25] Diagnosis should be considered in individuals with primary [26] 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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Physical

Approximately 95% of individuals with Turner syndrome have both short stature and signs of ovarian failure upon physical examination.

Short stature: In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. Before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are below the 50th percentile for girls without Turner syndrome. [3]

Dental: A high arched palate suggests the diagnosis. Patients may have dental crowding or malocclusion.

Ovarian failure: Suspect ovarian failure in girls who have no breast development by age 12 years or who have not started menses by age 14 years. Elevated levels of luteinizing hormone (LH) and FSH confirm ovarian failure.

Pubic hair: Pubic hair development is normal.

Nails: Many patients have hypoplastic or hyperconvex nails. Although these are not a clinical problem, they are rarely seen in other patients.

Nevi: Excessive numbers of nevi, when compared to other family members, are common. These may be removed if rubbed or irritated by clothing.

Webbed neck: Lymphedema in utero can cause a broad neck and a low or indistinct hairline.

Cubitus valgus (increased carrying angle): This is a common skeletal anomaly in girls due to abnormal development of the trochlear head.

Madelung deformities of the wrist.

Short fourth and fifth metacarpal or metatarsal: Although this finding is of minimal clinical significance, it can be a clue to the presence of Turner syndrome.

Shield chest: The chest appears to be broad with widely spaced nipples. This may be caused in part by a short sternum.

Lymphedema: Lymphedema may be present at any age and is one finding that can suggest Turner syndrome on fetal ultrasonography. Lymphedema is the cause of other anomalies, such as the webbed neck and low posterior hairline. In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausagelike appearance to the fingers and toes.

Eye: Ptosis, strabismus, amblyopia, and cataract s are more common in girls with Turner syndrome. Epicanthal folds can be present. Red-green color blindness is an X-linked condition and is believed to occur in girls with Turner syndrome as commonly as it does in males.

Ears: Serous otitis media is more common, probably due to poor anatomic drainage of the middle ear, which may be associated with a high-arched palate. [4] The auricles may be posteriorly rotated or low set as a result of lymphedema. Hearing loss due to otosclerosis is common in adults.

GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased.

Hip dislocation: Infants have a higher incidence of congenital hip dislocation. They should be evaluated clinically and referred for further treatment, if needed.

Scoliosis: This occurs in 10% of adolescent girls with Turner syndrome and may contribute to short stature. Scoliosis screening is essential.

Hypertension: Blood pressure elevations may be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings. Blood pressure should be routinely monitored and measured at each medical visit. Four-limb blood pressures should also be evaluated because of the concern of coarctation.

Murmurs: Cardiovascular malformations include hypoplastic left heart [5] , coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood. All individuals should have an initial evaluation and periodic follow-up care from a cardiologist. [27] Evaluation prior to initiation of estrogen therapy or assisted reproduction is strongly recommended.

Thyroid: As many as half of patients have positive antithyroid antibodies, and 10-30% develop hypothyroidism. [6] This is often associated with thyroid enlargement.

Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns. This is a result of resolving lymphedema and occasionally is observed after infancy.

Prenatal signs

Most concepti with a 45,X karyotype spontaneously abort. Most, if not all, of those who survive to birth are suspected to have mosaicism for a normal cell line.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. Obtain a karyotype by one of these methods if ultrasonography of a fetus reveals a nuchal cystic hygroma, [7, 8] horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops. A postnatal karyotype may be performed instead of amniocentesis or chorionic villus sampling and is also recommended if the human chorionic gonadotropin (HCG), estradiol, or alpha-fetoprotein (AFP) level is elevated during pregnancy.

Neonatal pedal edema suggests a diagnostic evaluation for Turner syndrome.

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Causes

The diagnosis of Turner syndrome requires the presence of typical phenotypic features and the complete or partial absence of a second sex chromosome.

Advanced maternal age is not associated with an increased incidence.

In patients with a single X chromosome, the chromosome is of maternal origin in two thirds of cases.

Many of the features of Turner syndrome, including the short stature, are due to the lack of a second SHOX gene, which is on the X chromosome. [28]

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