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Turner syndrome in Adult
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Turner syndrome in Adult

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Turner syndrome (gonadal dysgenesis) is a result of partial or total loss of one X chromosome secondary to nondisjunction during gametogenesis of parents or a postfertilization mitotic error. Although 95% abort spontaneously in the first trimester, there are still a significant number of females that are affected. Lymphedema is prominent in utero and leads to many of the characteristic cutaneous manifestations at birth. Newborns are small for gestational age and have redundant neck skin as well as prominent edema of the hands and feet. Approximately one third of patients are diagnosed at birth because of the edema. The puffiness of the hands and feet gradually resolve. The nails tend to be hypoplastic, deep-set, and the fingernails can be hyperconvex.

Patients with Turner syndrome can have associated coarctation of the aorta and kidney abnormalities. With proper treatment of the congenital anomalies, patients have a normal life span.

Related topic: Cystic medial necrosis

Codes

ICD10CM:
Q96.9 – Turner's syndrome, unspecified

SNOMEDCT:
38804009 – Turner syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Noonan syndrome also has features of congenital edema with nuchal webbing but has associated ptosis, downslanting palpebral fissures, and high palate. It is inherited in an autosomal dominant manner and should, therefore, have a strong family history.

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Last Updated: 07/01/2019
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Turner syndrome in Adult
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Turner syndrome : Failure to thrive, Hand edema, Micronychia, Present at birth, Webbed neck, Foot edema
Clinical image of Turner syndrome
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