Turner Syndrome Characteristics, Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Diagnosing TS is relatively simple at all stages of life. Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones, and kidneys. It causes symptoms like short stature, delayed puberty and issues with ovary function. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Migeon and Whitehouse (1967) described 2 families, each with 2 sibs with somatic features of the Turner phenotype Turner syndrome is a relatively rare condition, affecting approximately 1 in 2,000 female births. Explore symptoms, inheritance, genetics of this condition. May 2, 2026 · In adults, Turner syndrome is one of the most important causes of primary amenorrhea and accounts for approximately one-third of such cases. The type of TS may affect the number and severity of symptoms. It is essential to understand Turner syndrome and its potential implications for individuals and their families. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals. Moreover, increasing awareness of Turner syndrome can reduce Find out about Turner syndrome including the symptoms, how it’s diagnosed and the treatment and support that is available. (1959) to have its basis in a 45,X chromosomal aberration called Turner syndrome, Ullrich-Turner syndrome (Wiedemann and Glatzl, 1991), or monosomy X. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in a failure to reach puberty and infertility. Feb 11, 2022 · Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Turner Syndrome is named after an American endocrinologist Dr Henry Turner who, in 1938 described seven women patients with similar physical features including short stature and the absence of female sexual characteristics, increased skin folds in the neck and a wide carrying angle of the arms. Each child is different, so your child may not experience all symptoms. It can cause short stature, webbing of the neck, heart problems, abnormal puberty and more. The associated ovarian dysgenesis typically leads to absence of secondary sex characteristics. Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. This condition occurs in about 1 in 2,000 female newborns worldwide. Learn how to diagnose and treat this syndrome. Common facial features include: Drooping eyelids High, narrow roof of the mouth Sep 24, 2013 · Turner syndrome is a chromosomal condition that alters development in females. Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Physical characteristics The most common physical sign of Turner syndrome is short stature. Early diagnosis and appropriate medical management can help improve the quality of life for those affected by the condition. Most people with Turner syndrome have normal intelligence. May 13, 2025 · Turner syndrome happens when your female baby is born with a missing or partial X chromosome. It’s this difference in chromosomes that leads to the characteristics and health concerns linked to Turner syndrome. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling Jul 12, 2022 · Turner Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional Version. [2 Apr 6, 2026 · Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. Feb 11, 2022 · Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome is a condition that affects only females and results from a missing or partial X chromosome. Turner syndrome, a condition that affects 1 in 2,000 females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome happens when someone born with female chromosomes is missing all or part of an X chromosome. Turner syndrome can cause a variety of distinct physical features and medical concerns. . The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. PubMed® comprises more than 40 million citations for biomedical literature from MEDLINE, life science journals, and online books. 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