Edit concept Question Editor Create issue ticket

Turner Syndrome

Turners Syndrome

Turner syndrome, first described in 1938 by Henry Turner, is as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female.

Turner Syndrome - Symptom Checker

Ad Check possible symptoms of Turner Syndrome now!

Presentation

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
  • ), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov]
  • Short stature was the main reason for referral of patients with and without TS.[ncbi.nlm.nih.gov]
  • A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov]
  • Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X, mar karyotype.[ncbi.nlm.nih.gov]
  • All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH).[ncbi.nlm.nih.gov]
Coarctation of the Aorta
  • 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]
  • In this multicenter, retrospective cohort study, all patients with TS and a coarctation of the aorta, treated with percutaneous stent implantation were included. The procedural strategies were dictated by local protocols.[ncbi.nlm.nih.gov]
  • Coarctation of the aorta [ edit ] Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery (the artery that branches[en.wikipedia.org]
  • 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, coarctation of the aorta, bicuspid aortic valve, and[symptoma.com]
  • […] of the aorta or renal anomalies but often occur even in the absence of such findings Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart [5] , coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood[emedicine.medscape.com]
Lymphedema
  • 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]
  • 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.[emedicine.medscape.com]
  • 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]
  • 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]
  • Signs and symptoms At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema.[emedicine.medscape.com]
Recurrent Otitis Media
  • otitis media; blood pressure measurement in all four extremities; and ongoing annual thyroid function, liver enzyme, and fasting lipid and glucose monitoring.[aafp.org]
  • Recurrent otitis media occurs in most girls with Turner syndrome.[pediatrics.aappublications.org]
  • The majority of infants and children with Turner's syndrome have recurrent otitis media, which is probably due to a combination of small, dysfunctional eustachian tubes and palatal dysfunction.[nejm.org]
Goiter
  • Besides his work in the hospital and university, Turner was a leading member of many societies, including The Endocrine Society of America, American Goiter Association, Central Society for Clinical Research, National Society of Nuclear Medicine and the[healio.com]
High Arched Palate
  • 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]
  • Characteristics Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus[magicfoundation.org]
  • 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.[emedicine.medscape.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]
  • Other features include short (webbed) neck, low hairline, a high arched palate and widely spaced nipples giving a shield-like chest appearance. There can also be an increased number of moles and abnormal fingernails.[yourhormones.info]
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]
  • 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.[symptoma.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]
  • 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]
  • 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.[emedicine.medscape.com]
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]
  • Sympathetic nervous system hyperactivity plays a role in development and progression of hypertension.[ncbi.nlm.nih.gov]
  • Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported.[ncbi.nlm.nih.gov]
  • Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension).[ncbi.nlm.nih.gov]
  • These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy.[ncbi.nlm.nih.gov]
Heart Failure
  • 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]
Low Set Ears
  • Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears Swollen hands and feet Most women with Turner syndrome are infertile .[medlineplus.gov]
  • These include short stature, swelling, a broad chest, a low hairline, low set ears and a webbed neck.[house.wikia.com]
  • 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]
  • […] short 4th metacarpals congenital hip dislocation web neck osteoporosis Presentation Symptoms amenorrhea short stature webbed neck Physical exam amenorrhea with present uterus coarctation of the aorta may be evident on auscultation low hairline in back low-set[orthobullets.com]
  • 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]
Hearing Problem
  • 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]
  • Other care Throughout life, tests should be done to look for: Hearing problems Thyroid disease High blood pressure Diabetes Heart problems High cholesterol Prevention Turner syndrome can’t be prevented.[cancercarewny.com]
  • Other features vary between patients but can include learning difficulties, sight or hearing problems, and kidney problems Causes: The complete or partial absence of an X chromosomes in some or all cells, meaning that affected women have one X chromosome[bigpictureeducation.com]
  • The condition is progressive, however, and commonly leads to hearing problems in later life, which may have serious social consequences. Otitis media (ear infection) is extremely common in girls with Turner Syndrome.[turnersyndrome.co.nz]
Hearing Impairment
  • 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]
  • Hearing impairment is common and can be due to persistent (chronic) ear infections or deterioration of the nerves. 'Thinning' of the bones (osteoporosis) .[patient.info]
  • The sensorineural dip can occur as early as 6 years of age and occasionally leads to hearing impairment during childhood.[turnersyndrome.co.nz]
  • 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
  • Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen.[symptoma.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]
  • […] arms that turn out slightly at the elbows a low hairline mouth abnormalities, which can cause teeth problems a large number of moles small, spoon-shaped nails a short fourth finger or toe Eyes eyes that slant downwards droopy eyelids (ptosis) a squint (strabismus[nhs.uk]
  • Additional physical findings may include a receding jaw (retrognathia), crossed eyes (strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof of the mouth (palate).[rarediseases.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]
Ptosis
  • 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]
  • Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen.[symptoma.com]
  • […] spaced nipples arms that turn out slightly at the elbows a low hairline mouth abnormalities, which can cause teeth problems a large number of moles small, spoon-shaped nails a short fourth finger or toe Eyes eyes that slant downwards droopy eyelids (ptosis[nhs.uk]
  • […] neck and a 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[emedicine.medscape.com]
  • Repeated ear infections and glue ear are very common as are minor vision problems including squints, drooping eyelid (ptosis) and colour blindness.[yourhormones.info]
Epicanthal Folds
  • Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears, a webbed neck, and a shieldlike chest.[britannica.com]
  • Other findings characteristic of TS include: temporal narrowing Epicanthal Folds prominent, low-set ears high, narrow palate small mandible low posterior hairline with neck webbing or nuchal redundancy Shield chest, wide-spaced nipples (scroll down to[medicalhomeportal.org]
  • 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.[symptoma.com]
  • folds can be present; red-green color blindness Ears: Serous otitis media is more common [ 4 ] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults GI bleeding: This is usually due to intestinal vascular[emedicine.medscape.com]
  • 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.[emedicine.medscape.com]
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]
  • 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]
  • Hip dislocation: Infants have a higher incidence of congenital hip dislocation. They should be evaluated clinically and referred for further treatment, if needed.[emedicine.medscape.com]
  • Infants also have a higher incidence of congenital hip dislocation.[emedicine.medscape.com]
Swelling of Hand
  • 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]
  • 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]
  • 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]
  • 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]
  • Lymphedema Although most common in infants, lymphedema (swelling of hands and feet) may occur or reoccur at any age, and may be associated with the initiation of therapy with Growth Hormone or estrogen.[turnersyndrome.co.nz]
Skeletal Dysplasia
  • Chondrodysplasia of the distal radial epiphysis (Madelung's deformity), typical of the Leri–Weill syndrome — the skeletal dysplasia associated with SHOX haploinsufficiency — is a rare complication.[nejm.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]
  • 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]
  • 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]
  • 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.[emedicine.medscape.com]
  • Phenotypic features vary widely but commonly include short stature, ovarian failure, edema of hands or feet, nuchal folds, left-sided cardiac anomalies, low hairline, low set ears, small mandible, cubitus valgus, nail hypoplasia, hyperconvex nails, multiple[nature.com]
Cutis Laxa
  • 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]
  • 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 : 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.[emedicine.medscape.com]
Hypoplastic Nails
  • 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]
  • In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation.[emedicine.medscape.com]
  • 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.[emedicine.medscape.com]
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]
Pterygium Colli
  • 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]
Widely Spaced Nipples
  • 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]
  • 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]
  • A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples.[medicinenet.com]
  • Symptoms Turner syndrome may cause: Swelling of the hands and feet Folds of skin at the neck Low hairline in back A broad chest with widely spaced nipples Problems feeding Short stature Learning problems Slowed sexual growth Lack of breast growth Absent[cancercarewny.com]
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]
  • She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits.[ncbi.nlm.nih.gov]
  • The most frequently encountered findings were growth delay (98.8%), shortening of the 4th and 5th 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]
  • The patient has a short neck and wide torso. She has Tanner stage I beast development and pubic hair with normal external female genitalia. On bimanual exam, the vagina is of normal length and the cervix is palpable.[medbullets.com]
  • Apart from short stature, there may be other physical features: Head and neck Eye problems (drooping eyelids, “lazy” eye) Low-set ears Small lower jaw Low hairline at the back of the head Wide and short neck, sometimes with excess skin that joins the[hormone.org]
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]
  • Most patients with Turner syndrome (TS) exhibit amenorrhea due to premature ovarian failure. Therefore, estrogen replacement therapy (ERT) is required; however, even after undergoing ERT, it is not rare for bone mass acquisition to be insufficient.[ncbi.nlm.nih.gov]
  • Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea.[ncbi.nlm.nih.gov]
  • At a Glance Amenorrhea is the absence of menstrual blood flow.[clinicaladvisor.com]
  • A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy.[ncbi.nlm.nih.gov]
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]
  • Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea.[ncbi.nlm.nih.gov]
  • A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy.[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]
  • Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure.[ncbi.nlm.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]

Workup

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]
  • 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]

Treatment

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).

Prognosis

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.

Etiology

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.

Epidemiology

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

Sex distribution
Age distribution

Pathophysiology

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.

Prevention

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.

Summary

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".

Patient Information

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.

References

Article

  1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-574.
  2. Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child. 2006 Jun;91(6):513-20.
  3. Monroy N, López M, Cervantes A, García-Cruz D, et al. Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes. Am J Med Genet. 2002 Jan 22;107 (3): 181–189.
  4. Lyon AJ, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985 Oct;60(10):932-5.
  5. Sculerati N, Ledesma-Medina J, Finegold DN, Stool SE. Otitis media and hearing loss in Turner syndrome. Arch Otolaryngol Head Neck Surg. 1990 Jun;116(6):704-7.
  6. Natowicz M, Kelley RI. Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Dis Child. 1987 Feb;141(2):218-20.
  7. Pai GS, Leach DC, Weiss L, Wolf C, Van Dyke DL. Thyroid abnormalities in 20 children with Turner syndrome. J Pediatr. 1977 Aug;91(2):267-9.
  8. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010 Apr;95(4):1487-95.
  9. Bianco B, Lipay MV, Melaragno MI, Guedes AD, Verreschi IT. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab. 2006 Sep;19(9):1113-7.
  10. Conte FA, Grumbach MM, Kaplan SL. A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab. 1975 Apr;40(4):670-4.
  11. Alpman A, Cogulu O, Akgul M, et al. Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals. Fetal Diagn Ther. 2008 Mar 12;25(1):58-61.
  12. Carr RF, Ochs RH, Ritter DA, Kenny JD, et al. Fetal cystic hygroma and Turner's syndrome. Am J Dis Child. 1986 Jun;140(6):580-3.
  13. Davenport ML, Crowe BJ, Travers SH, Rubin K, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007 Sep;92(9):3406-16.
  14. Backeljauw P. Does growth hormone therapy before 4 years of age enhance the linear growth of girls with Turner's syndrome? Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):78-9.
  15. Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in turner syndrome. J Clin Endocrinol Metab. 2008 Feb;93(2):344-51.
  16. Bannink EM, van der Palen RL, Mulder PG, de Muinck Keizer-Schrama SM. Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. Horm Res. 2009;71(6):343-9.
  17. Price WH, Clayton JF, Collyer S, De Mey R, Wilson J. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J Epidemiol Community Health. 1986 Jun;40(2):97-102.
  18. Gould HN, Bakalov VK, Tankersley C, Bondy CA. High levels of education and employment among women with turner syndrome. J Womens Health (Larchmt). 2013 Mar;22(3):230-5.
  19. Foudila T, Soderström-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum Reprod. 1999 Feb;14(2):532-5.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2018-06-22 09:01