At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. They also have increased chances of congenital hip dislocation.

In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. Prior to 11 years of age, few girls have height and growth rates that are well within the normal range, but heights are less than the 50th percentile for girls who do not have Turner syndrome [4].

A high arched palate suggests the diagnosis. Dental crowding or malocclusion can be seen in these people. Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual.

Lymphedema in utero can cause a broad neck (webbed neck) and a low or indistinct hairline.

Cubitus valgus is a common skeletal anomaly in girls due to abnormal development of the trochlear head. Madelung’s deformities of the wrist are seen too. An undersized fourth and fifth metacarpal or metatarsal can be a clue to the presence of Turner syndrome.

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

Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen. Red-green color blindness is a condition linked to X chromosome and is believed to occur in girls with Turner syndrome as commonly as it does in males.

Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate [5]. The auricles may be posteriorly rotated or low set as a result of lymphedema. Otosclerosis leads to hearing loss in adults.

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

Scoliosis occurs in 10% of adolescent girls with Turner syndrome and may contribute to short stature.

Blood pressure elevations may be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings. ardiovascular malformations include hypoplastic left heart [6], coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adolescence.

As many as half of patients have positive antithyroid antibodies, and 10-30% develop hypothyroidism [7]. This is often associated with thyroid enlargement.

Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns.

• Short Stature

  During childhood, girls with Turner syndrome usually present with short stature. [3] In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. [emedicine.medscape.com]

  METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled. [ncbi.nlm.nih.gov]

  A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. [aafp.org]

• Coarctation of the Aorta

  Heart defects include narrowing of part of the aorta (coarctation of the aorta Coarctation of the Aorta Coarctation of the aorta is a narrowing of part of the aorta, the main blood vessel bringing red oxygenated blood from the heart to the body. [msdmanuals.com]

  Cardiovascular studies Perform echocardiography and/or MRI of the heart and aorta upon diagnosis. Evaluate 4-limb blood pressures, because of the high incidence of coarctation of the aorta. [emedicine.medscape.com]

  We describe hereunder a case of TS diagnosed with coarctation of the aorta due to high blood pressure detected by accident. [ncbi.nlm.nih.gov]

• Lymphedema

  Signs and symptoms At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. [emedicine.medscape.com]

  At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. [symptoma.com]

  Many newborns with Turner syndrome are mildly affected, but some have swelling (lymphedema Lymphedema Lymphedema is the accumulation of lymph in tissues, resulting in swelling. [msdmanuals.com]

• Recurrent Otitis Media

  RESULTS: Sixty-six percent of the patients had a history of recurrent otitis media. We found hearing loss in 66% of the ears, including pure sensorineural hearing loss in 32%. [ncbi.nlm.nih.gov]

  otitis media; blood pressure measurement in all four extremities; and ongoing annual thyroid function, liver enzyme, and fasting lipid and glucose monitoring. [aafp.org]

  otitis media Recurrent middle ear infection 0000403 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Secondary amenorrhea Previous menstrual periods stop 0000869 Shield chest 0000914 Short 4th metacarpal Shortened 4th [rarediseases.info.nih.gov]

  otitis media 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403 29 webbed neck 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465 30 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) [malacards.org]

  Recurrent otitis media occurs in most girls with Turner syndrome. [pediatrics.aappublications.org]

• Atrial Septal Defect

  septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Attention deficit hyperactivity disorder Attention deficit Attention deficit disorder Attention [rarediseases.info.nih.gov]

  T — Tracheoesophageal fistula E — Esophageal atresia R — Renal (Kidney) and/or radial anomalies L — Limb defects Ventricular septal defect (VSD), atrial septal defects, and tetralogy of Fallot are the most common congenital heart defects seen in the [en.wikipedia.org]

  septal defect • MS = mitral stenosis • VSD = ventriculoseptal defect The occurrence of cardiac malformations in Turner syndrome (gonadal dysgenesis with sex chromosome aneuploidy) has long been recognized. 1 The most common heart defects are coarctation [pediatrics.aappublications.org]

  As in other reported cases,10–13,35 the finding of anomalous venous return was typically isolated and was not associated with intracardiac defects such as sinus venosus atrial septal defect, as seen in non-TS subjects.36 Moreover, PAPVR was typically [ahajournals.org]

• Failure to Thrive

  […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Genu valgum Knock knees 0002857 Hashimoto thyroiditis 0000872 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hepatic steatosis Fatty infiltration [rarediseases.info.nih.gov]

  Once failure to thrive has been ruled out, the doctor may refer your child to an endocrinologist. This specialist will look for possible causes of the growth failure. [aboutkidshealth.ca]

  MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to premature ovarian failure 1 and gonadal dysgenesis. [malacards.org]

  Specialty Collaborations & Other Services Gastro-Intestinal & Bowel Function Gastroesophageal reflux Feeding problems during infancy are relatively common and may include difficulties latching and sucking, gastroesophageal reflux, and failure to thrive [medicalhomeportal.org]

• High Arched Palate

  Nine patients had a high-arched palate. Nine patients had class II first molar relationship occlusion and one had mesial step-type occlusion. [ncbi.nlm.nih.gov]

  Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate. The auricles may be posteriorly rotated or low set as a result of lymphedema. [symptoma.com]

  Dental problems, such as a high arched palate. Hearing loss and ear infections. Heart abnormalities. Diabetes and hypothyroidism. Delayed puberty. [akronchildrens.org]

  They include: Short stature (typically under 5 feet tall) Low hairline Receding lower jaw Short and webbed neck Scoliosis Puffy hands and feet Increased carrying angle of elbows Narrow and high arched palate Broad chest Flat feet Are there any health [reproductivefacts.org]

• Malocclusion

  This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease. [ncbi.nlm.nih.gov]

  Mouth - micrognathia, high palate and mandible abnormalities can result in crowding of teeth and malocclusion. Neck - short, webbed; low hairline. Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples. [patient.info]

  Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family [emedicine.medscape.com]

  Patients seven years or older need orthodontic evaluation for malocclusion or other tooth anomalies. Teenagers should be carefully monitored for scoliosis and kyphosis. [aafp.org]

• Macrostomia

  External links[edit] Classification D ICD-10: Q18.3 ICD-9-CM: 744.5 DiseasesDB: 29611 v t e Congenital malformations and deformations of face and neck (Q18, 744.4–744.9) Face jaw: Otocephaly mouth: Macrostomia Microstomia lip: Macrocheilia Microcheilia [en.wikipedia.org]

• Hypertension

  Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome. [ncbi.nlm.nih.gov]

  […] later in childhood as hypertension. [ahajournals.org]

  Hypertension was reported in 40 of 238 (17%) survey respondents. In 37 patients, the degree of hypertension was described as mild or moderate. In 3 patients, it was described as severe hypertension; none had aortic dilation. [doi.org]

• Heart Failure

  failure (history of cardiomyopathy), one right heart failure (history of sleep apnea), one left ventricular hypertrophy (prior aortic stenosis), and one valve abnormality. [doi.org]

  Systolic and Diastolic Heart Failure. N/A D. Coronary Artery Disease or Peripheral Vascular Disease. N/A E. Diabetes or other Endocrine issues. N/A F. Malignancy. N/A G. Immunosuppression (HIV, chronic steroids, etc). N/A H. [cancertherapyadvisor.com]

  A failure to fuse properly will result in a defect that may allow blood to leak between chambers. [en.wikipedia.org]

  If untreated, severe cases can result in insufficient blood flow to the organs of the body or eventually progress to congestive heart failure. [rarediseases.org]

  Price and Willey37 reported 2 adult patients (ages 35 and 47 years) with TS (from a series of 135 patients with TS) who presented with congestive heart failure secondary to significant left-to-right shunting by large PAPVR lesions. [ahajournals.org]

• Hip Dislocation

  45 XO gentoype Associated condtitions medical sexual infantilism malignant hyperthermia common with anethesia orthopaedic cubitus valgus idiopathic scoliosis (may be exacerbated by growth hormone therapy) genu valgum short 4th metacarpals congenital hip [orthobullets.com]

  This leads to infertility in the majority of cases Widely spaced nipples Low hairline, webbed neck or extra skin at the neck Mild knee or elbow anomalies, hip dislocation Minor kidney issues. [adoption.umn.edu]

  Infants also have a higher incidence of congenital hip dislocation. [emedicine.medscape.com]

  Infants and young children with Turner syndrome should be examined with Barlow/Ortolani maneuvers for evidence of congenital hip dislocation, and those older than one year should be referred to a pediatric ophthalmologist to assess for hyperopia and strabismus [aafp.org]

  They also have increased chances of congenital hip dislocation. In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. [symptoma.com]

• Swelling of Hand

  Some are identified at birth with identified swelling of hands and feet and other females are only identified later in life when they present with premature ovarian failure or infertility. [adoption.umn.edu]

  On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. [ncbi.nlm.nih.gov]

  The following signs are more common in women with Turner Syndrome than in the general population: short stature, lymphodema (swelling of hands and feet), broad chest and widely spaced nipples, low hairline, low-set ears, and infertility. [isna.org]

  Turner syndrome Pathology Type Genetic Cause(s) Missing "X" chromosome Symptoms Short stature, swelling of hands and feet, broad chest, low hairline, sterility Mortality Rate Low Treatments Human growth hormone, estrogen, Show Information [Source] Turner [house.wikia.com]

  Swelling of hands, feet and/or neck in infancy is due to lymphoedema. The lymphoedema usually disappears by 2 years of age but may recur later affecting one or both legs in late childhood or adulthood. [dermnetnz.org]

• Severe Short Stature

  Multiple pituitary hormone deficiency and Turner syndrome have overlapping features in peripubertal girls and is a diagnostic challenge. 16-year-old girl having Turner phenotype undergoing evaluation for severe short stature and pubertal arrest. 45,X [ncbi.nlm.nih.gov]

  stature. 61 54 Shanske AL...Saenger P 17028440 2007 26 Future directions: growth prediction models. 61 54 Geffner ME...Dunger DB 18174708 2007 27 Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing [malacards.org]

• Low Set Ears

  These include: low-set ears neck hair that extends down toward the shoulders excess skin on the neck droopy eyes scoliosis fingernails and toenails that turn slightly upward flat feet increased angulation at the elbow To learn more, read our article about [endocrineweb.com]

  Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome. Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes. [web.archive.org]

  […] posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary [rarediseases.info.nih.gov]

• Hearing Problem

  This indicates that careful follow-up to detect ear and hearing problems is necessary, especially for those with a monosomy 45,X or isochromosome 46,X,i(Xq). Ox does not seem to have an effect on hearing. [ncbi.nlm.nih.gov]

  Patients also do not develop ovaries and are sterile, Turners patients suffer from numerous complications including heart disease, hypothyroidism, diabetes mellitus, vision problems and hearing problems. [house.wikia.com]

  […] with tasks such as maths absence of menstruation (amenorrhoea) hearing problems. [betterhealth.vic.gov.au]

  Other signs and symptoms may include extra folds of skin on the neck, a low hairline at the back of the neck, swelling of the hands and feet, and heart, kidney, bone, and hearing problems. [cancer.gov]

  Hearing problems Ear malformations and hearing problems are common in people with Turner syndrome. They may need hearing aids as children or adults. [nichd.nih.gov]

• Hearing Impairment

  Impaired body balance is strongly associated with hearing impairment and both constitute a social handicap. Social isolation, mainly related to hearing impairment, is more common in women with Turner syndrome. [internetmedicin.se]

  Hearing loss Hearing Impairment in Children Hearing impairment refers to any degree of hearing loss, mild to severe, and can occur when there is a problem with a part of the ear, including the inner, middle, and outer ears, or the nerves... read more [msdmanuals.com]

  They need ongoing ultrasounds (echocardiograms) every 1-5 years to monitor their hearts. 6 Hearing impairments 50%. 7 Turner syndrome can be difficult to diagnose with the information we get from other referring countries. [adoption.umn.edu]

  Patients with Turner syndrome are at increased risk for a number of medical issues including renal anomalies (most common horseshoe kidneys), hearing impairment, and congenital heart defects. [meddean.luc.edu]

• Strabismus

  Strabismus Strabismus is an intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. [msdmanuals.com]

  […] occur, particularly in patients with a bicuspid valve, coarctation, or untreated hypertension. 8, 9 Patients with Turner syndrome often have an atherogenic cardiovascular risk factor profile. 10 Other potential complications of Turner syndrome include strabismus [aafp.org]

  Vision – Hyperopia and strabismus each occur in approximately 25 – 35% of patients with TS. All patients should have an ophthalmologic evaluation by 12 to 18 months of age. [pedclerk.bsd.uchicago.edu]

  Vision: Strabismus and farsightedness, or hyperopia, is more common among girls with TS. In strabismus, the eyes do not work in parallel, and they appear to be looking in different directions. [medicalnewstoday.com]

  […] low or indistinct hairline Cubitus valgus (increased carrying angle) Madelung deformities of the wrist Short fourth and fifth metacarpals and metatarsals Shield chest: The chest appears to be broad with widely spaced nipples Lymphedema Eyes: Ptosis, strabismus [emedicine.medscape.com]

• Prolapse

  A total of 136 (56%) of 244 of these patients had cardiovascular abnormalities, 96 (71%) were structural, 40 (29%) were functional, including hypertension (HBP), mitral valve prolapse and conduction defects. [ncbi.nlm.nih.gov]

  RESULTS Of 244 individuals, 136 had cardiac abnormalities, including structural malformations, hypertension (HBP), conduction defects, and mitral valve prolapse (MVP). [pediatrics.aappublications.org]

• Hyperconvex Nails

  Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS. [ncbi.nlm.nih.gov]

  […] key diagnostic factors Other diagnostic factors dysmorphic features secondary amenorrhea multiple melanocytic nevi recurrent/severe otitis media systolic ejection murmur and/or click poor social skills upper extremity hypertension dystrophic and/or hyperconvex [bestpractice.bmj.com]

  Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family [emedicine.medscape.com]

  Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual. Lymphedema in utero can cause a broad neck (webbed neck) and a low or indistinct hairline. [symptoma.com]

• Hypoplastic Nails

  Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family [emedicine.medscape.com]

  The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. They also have increased chances of congenital hip dislocation. [symptoma.com]

  Patients may have a low posterior hairline, webbed neck, broad chest, hypoplastic nails, skeletal anomalies, congenital cardiovascular abnormalities (bicuspid aortic valves, aortic coarctation) as well as acquired vascular features, such as hypertension [orpha.net]

• Alopecia

  Herein, we present a 6 years old girl with Turner syndrome who had diagnoses of psoriasis, alopecia areata and trachyonychia and we would like to draw attention to the possible relationship between these diseases. [ncbi.nlm.nih.gov]

  Skin lymphoedema - hands, feet, neck (pterygium coli), pigmented naevi, telangiectasias, vitiligo, keloid, seborrhoeic dermatitis; increased body hair with alopecia. There is a risk of keloid formation with surgery. [patient.info]

  Vitiligo and alopecia areata may be more common in Turner syndrome. Studies have suggested alopecia areata is three times more common in Turner syndrome than in the general population. [dermnetnz.org]

  […] of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Alopecia [rarediseases.info.nih.gov]

• Cutis Laxa

  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 See Clinical Presentation for more detail. [emedicine.medscape.com]

  Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns. A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism. [symptoma.com]

• Pterygium Colli

  Surgical therapy for the removal of disturbing stigmata (e.g., pterygium colli) and psychosocial care for the patients is important. [lecturio.com]

  The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence. [ncbi.nlm.nih.gov]

  Webbed neck Other names Pterygium colli deformity A 12-year-old female with Noonan syndrome exhibiting a typical webbed neck. [en.wikipedia.org]

  The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. [elsevier.es]

• Widely Spaced Nipples

  Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. [medicinenet.com]

  […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Anxiety Excessive, persistent worry and fear 0000739 Aortic arch aneurysm 0005113 Broad neck Increased width [rarediseases.info.nih.gov]

  Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome. Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes. [web.archive.org]

• Short Neck

  The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. [ncbi.nlm.nih.gov]

  Symptoms may include: Short stature. Puffy hands and feet. Upturned fingernails. A wide short neck and broad chest. Low set ears and hairline. Dental problems, such as a high arched palate. Hearing loss and ear infections. Heart abnormalities. [akronchildrens.org]

  Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. [nichd.nih.gov]

• Hypertelorism

  The most frequently encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular [ncbi.nlm.nih.gov]

  Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS ), and [hon.ch]

  Vysvetľujúca pozn. v angl.A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly [arl4.library.sk]

  Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis. Child. 1968; 116: 373 Federman D.D. Abnormal sexual development. W. B. Saunders Company, Philadelphia1967 Ferguson-Smith M.A. [ajog.org]

• Amenorrhea

  At a Glance Amenorrhea is the absence of menstrual blood flow. [clinicaladvisor.com]

  A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L. [ncbi.nlm.nih.gov]

  […] congenital heart defects skeletal abnormalities webbed neck peripheral lymphedema More key diagnostic factors Other diagnostic factors dysmorphic features secondary amenorrhea multiple melanocytic nevi recurrent/severe otitis media systolic ejection [bestpractice.bmj.com]

• Primary Amenorrhea

  A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L. [ncbi.nlm.nih.gov]

  Turner Syndrome (TS) due to the complete deletion of all or part of the X chromosome results in primary amenorrhea. [clinicaladvisor.com]

• Secondary Amenorrhea

  […] congenital heart defects skeletal abnormalities webbed neck peripheral lymphedema More key diagnostic factors Other diagnostic factors dysmorphic features secondary amenorrhea multiple melanocytic nevi recurrent/severe otitis media systolic ejection [bestpractice.bmj.com]

  Primary or secondary amenorrhea occurs with ovarian failure. [emedicine.medscape.com]

  0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Secondary amenorrhea Previous menstrual periods stop 0000869 Shield chest 0000914 Short 4th metacarpal [rarediseases.info.nih.gov]

• Delayed Menarche

  Other prominent presenting features in teenage years are delayed puberty and delayed menarche, and in adult women, anovulation and infertility. TABLE 1. [pediatrics.aappublications.org]

A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism [9]. Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. Malignant gonadoblastomas or testicular tissue might be seen in these patients [9].

Both LH and FSH may be elevated in untreated patients younger than 4 years; they are later suppressed to normal or near-normal levels, but after 10 years of age they rise to menopausal levels [10].

Due to the high prevalence of hypothyroidism in association with Turner syndrome [7], obtain thyroid function tests at diagnosis; repeat TSH measurements every 1-2 years or if symptoms develop, as a person can develop hypothyroidism in later age.

Abnormalities of glucose metabolism, inclusive of overt diabetes mellitus, are commonly seen; screening for diabetes mellitus is best performed by obtaining a hemoglobin A1c or fasting glucose level. People suffering from this syndrome should have blood urea nitrogen (BUN), creatinine, fasting lipids, liver enzymes, measured annually after childhood for routine health maintenance.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. Get a karyotype by any of these methods if ultrasonography of a fetus reveals a nuchal cystic hygroma [11] [12], horseshoe kidney, left-sided cardiac abnormalities, or nonimmune fetal hydrops.

• Delayed Bone Age

  Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. [ncbi.nlm.nih.gov]

• Karyotype Abnormal

  The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%). [ncbi.nlm.nih.gov]

  The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. [hon.ch]

  The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). [arl4.library.sk]

  A wide range of karyotypic abnormalities exists within Turner syndrome. When conventional karyotyping is performed using lymphocyte cultures, about 50% of patients show a 45,X chromosome constitution. [pediatrics.aappublications.org]

Patients with Turner syndrome require screening for commonly associated chronic diseases.

Growth hormone therapy

• In childhood, growth hormone therapy is the basis to avoid short stature as an adult [13] [14] [15].
• The optimum age to begin this treatment has not been established; taller adult heights occur with the longest treatment durations before the start of puberty.
• Growth hormone can have long-term favorable effects on lipids, despite of stopping it [16].

Sex hormone replacement therapy

• Estrogen replacement therapy is generally needed, but commencing too early or taking doses that are too high can compromise adult height. Estrogen is generally given at age of 12-15 years. Regular low-dose estrogens should be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later.

Consultations with specialists like endocrinologist, cardiologist, nephrologist or urologist, and psychologist are needed as this syndrome affects all major systems of the body at some time or the other during its course [8].

Both short stature and ovarian failure are risk factors for osteoporosis, it should be seen that there is sufficient daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).

Because Turner syndrome is a condition of missing or altered chromosomes, it is not curable. The prognosis of this syndrome can be better, with meticulous and regular monitoring of a person's health and early treatment of problems that can develop. Most of the females with Turner syndrome lead full and active lives and can expect a normal lifespan.

Turner syndrome is caused by the absence of two complete copies of the X chromosome in some or all the cells. The exact reason for the loss of the second copy of the X chromosome hasn’t clearly been understood yet.

Turner syndrome is one of the most common chromosomal abnormalities, seen in almost 1 in 2000 live-born female babies [1] [2].

A girl inherits one X chromosome from each of the parents. In case a girl has Turner syndrome, one copy of the X chromosome is absent or significantly altered. The genetic transformations of Turner syndrome may be one of the following:

• Complete absence of an X chromosome that generally occurs because of an error in either the father's sperm or the mother's egg. Therefore, all cells in the body have only one X chromosome - a condition called monosomy (45,X). In the majority of cases where monosomy occurs, the X chromosome comes from the mother [3].
• In some cases, an error occurs in cell division during early stages of fetal development. Hence, few cells in the body have two integrated copies of the X chromosome and remaining cells have only one copy of the X chromosome, or they have one integrated and one changed copy. This condition is known mosaicism.
• In a small percentage of cases of Turner syndrome, few cells have one copy of the X chromosome and remaining cells have a copy of the X chromosome and little Y chromosome material.

There is currently no known method of prevention for Turner syndrome. It occurs randomly and is not hereditary. Hence it is not mandatory for the daughter to have it even if the mother has this disorder.

If there is suspicion of Turner syndrome during pregnancy, prenatal screening and diagnostic tests may be performed to determine if a mother's fetus has the disorder.

Turner syndrome is a condition that affects only females, resulting from an absent or incomplete sex chromosome. In some cases, the chromosome is missing in some cells but not in all, leading to a condition known as mosaicism or "Turner mosaicism".

Turner syndrome is a genetic disorder caused due to X chromosome anomaly and hence is always seen in females. It affects almost all the major systems in the body but is not a cause of mental retardation [17] as these people are more likely to be employed than other adult women [18].

Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension [17]. Almost all individuals are infertile, but pregnancy with donor embryos is possible [19].

The Turner Syndrome Society of the United States and other organizations arrange for tutorial materials, funds for families and data about support groups. Associations for parents give an opportunity to exchange ideas, form coping plans and find resources. A community for girls with Turner syndrome can help reinforce your self-esteem and provide you with a social network of people who understand your experience with Turner syndrome.