General Information About Turner Syndrome
Disease Details and Frequently Asked Questions
It is a hereditary developmental disorder occurring exclusively in girls and women, caused by the complete absence (45,X) or structural aberration of one of the two X (sex) chromosomes within the cells.
The most prominent clinical feature is Short Stature. Additional somatic manifestations include web-like skin folds on both sides of the neck (webbed neck or pterygium colli), a broad shield-like chest with widely spaced nipples, a low posterior hairline, and a slight outward deviation of the forearms at the elbows (Cubitus Valgus).
The chromosomal deficiency impedes the normal anatomical development of the ovaries. If these girls do not receive exogenous hormone replacement therapy, they generally cannot undergo spontaneous puberty, fail to menstruate (primary amenorrhea), and are unable to conceive children naturally (infertility).
No, the global intellectual capacity of individuals with Turner syndrome is entirely normal. However, a subset of patients may exhibit mild specific learning disabilities, particularly in domains requiring spatial-visual cognition (such as mathematics or map reading) or manifestations of attention deficit.
Clinical suspicion may arise at birth due to puffy edema of the hands and feet (lymphedema) and a webbed neck, or it is frequently identified during childhood upon the cessation of linear growth. Definitive diagnosis is established by demonstrating the absence or structural defect of the X chromosome via a Chromosomal Analysis (Karyotyping) test from a blood sample.
While there is no curative therapy to alter the fundamental genetic (chromosomal) constitution, modern medical interventions can secure an excellent quality of life. To stimulate linear height, Growth Hormone (GH) injections are initiated during childhood (optimally around 5-6 years of age). During adolescence, to induce uterine development, initiate menstrual cycling, and prevent osteoporosis, Estrogen and Progesterone hormonal replacement therapy (HRT) is administered lifelong to physiologically mimic natural puberty.
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