Medical symptom checker - Amenorrhea causes or absent of menstruation - Turner syndrome picture

Turner syndrome picture


Turner syndrome which also known as Bonnevie- Ulrich syndrome, Ulrich Turner syndrome , monosomy X, XO syndrome, short stature, sexual infantilism or gonadal dysfunction syndrome is the most common female sex chromosome abnormality. It is presented with genotype XO. Edema of the feet, hand and webbing or excess skin of the neck are presenting features of Turner syndrome. Children with Turner syndrome appears to be short and suffer from heart or aortic abnormalities . Important clues of Turner syndrome during adolescent includes delayed puberty, primary amenorrhea and short statures. Nervous, musculoskeletal, renal, urologic, metabolic and endocrine systems are affected.


For high risk couples who have an affected child or who is a carrier of chromosomal translocation prenatal detection/diagnosis is available. No treatment exist for the fetal in the uterus. However the termination of the pregnancy for fetus with Turner syndrome is an option.


It affects female only at all ages. Turner syndrome accounts for 15% of cases of spontaneously aborted fetus and affect 1/ 9000 live females birth. Only 3% of all females conceived.


The risk factors include familial chromosomal translocation of the X chromosome. It also caused by the sporadic deletion of the X chromosome or deletion of the SRY portion of the Y chromosome of the male chromosomes. These individuals may develop to female if the SRY portion of the chromosome is missing or deleted. Single or monosomy of X chromosome which is complete or incomplete may lead to Turner syndrome.


Turner syndrome is associated with deafness, alopecia, Hashimoto thyroiditis, gastrointestinal disorders, aortic dissection in adults, carbohydrates intolerance and hypothyroidism.


The signs and symptoms of Turner syndrome includes 80% cases of short stature, 95% of cases of gonadal dysgenesis, 70% of cases of lymphedema of the foot and hands present at birth, 75% cases of broad chest, wide spaced nipples and hypoplastic in 78% of cases, short and webbed neck ( 80% and 65% ) , high palate and low hairline ( 80% ), nail hypoplasia and cubitus valgus ( 75%), excess spider nevi ( 70% ) , 65% of cases with short 4th metacarpal, renal, cardiovascular, ocular and CNS abnormalities which account for 60% and 30%.


The diagnostic procedure test include measurement of the blood pressure for lower and upper extremity .


Lab test include chromosomal analysis of at least 20 cells from at least 2 cell types such as skin cell or blood cell. Buccal cells are not eligible for the chromosomal analysis . Performed if history and examination are highly suspicious. FSH level needs to be measured as well as evaluation of the thyroid function every year/ annually.


Imaging studies includes ECG, renal ultrasound and cardiac ultrasound.


The pathological finding of the kidney in 60% of patient with Turner syndrome shows a horseshoe kidney and double collecting system . In 90% or more may present with ovarian dysgenesis. In ovarian dysgenesis , no follicle present, streaks gonad with artretic follicle. More than 50% suffer from osteoporosis and bone dysplasia. In term of cardiac, patient will suffer from coarctation of the aorta, bicuspid aortic valve and valvular aortic stenosis as well as hypertension. Patient may also suffer from green to red color blinds, strabimus, ptosis and ambylopia. Gonadoblastoma may also present . There is an increased incidence of coeliac disease for Turner syndrome patient. ADHD and decreased visuospatial organization may also present.


The differential diagnosis include, hypothyroidism , brachydactyl E, Noonan syndrome, Growth hormone deficiency, dyschondrosteosis, or Leri Weil syndrome, familial short stature, short stature due to chornic disease, Klippel- Feil anomaly and glucocorticoid excess. Other differential diagnosis includes polycystic ovarian syndrome, pure gonadal dysgenesis and primary and secondary amenorrhea as well as lymphedema with intestinal lymphangiectasia or recurrent cholestasis, Milroy disease and heriditary congenital lymphedema and pseudohypoparathyroidism as well as multiple pterygium syndrome.


The patient is initially managed in outpatient department. After diagnosis has been establish by karyotype, the following needs to be done that include the evaluation of the upper and lower extremity blood pressure measurements and ECG study ( cardiology evaluation). Any abnormalities may required prescription of prophylatic antibiotic for example before dental procedure. IV pyelography and renal ultrasound are performed as well as antithyroid antibodies and thyroid function test. Hearing examination is performed routinely. Begins the hormone replacement therapy with low dose of estrogen then large dose of estrogen cycled with progesterone for 1- 2 years . These are follow later with maintenance therapy with birth control pills which continue into the patient 5th decade. gynecologic evaluation is performed routinely . Only < 2% are able to conceive and infertility is a major problems, Alternatives treatment such as embryo transfer and in vitro fertilization can be tried. During pregnancy , there is high risk of maternal mortality as a result of cardiac complication. Monitoring the aortic root dimension during pregnancy with ECG is important.


Growth retardation may be treated with anabolic agents and sex hormone recombinant growth hormone ( 0.05mg/kg sc for once daily ) initially between the age of 3 and 10 years old before significant growth deceleration occurs, Patient also should be evaluated and treated if shows any signs of ADHD. Usually the intelligence is normal and problem are mostly present in non- verbal cases such as relating one object to another, Patient is also advised to visit primary care physician regularly.


Surgical treatment includes removal of gonad in patient with mosaicism, XY or X syndrome. Reconstructive surgery for webbed neck , protruding auricles and canthal fold are required to enhance physical appearance.


Patient who suffer from Turner syndrome may leads a normal life with proper medication and management. Patient required regular monitoring of the growth parameter , blood pressure measurement regularly, urinalysis annually if abnormality of renal is present, annual thyroid stimulating hormone and signs of hypothyroidism monitored. Regular hearing and eye examination as well as cardiac examination or sonography of aortic root in adult women, Patient also needs to screen for occult blood test.


webbed neck
webbed neck
edema of the feet
edema of the feet
edema of the hand
edema of the hand
missing of one chromosome in the circle area
missing of one chromosome in the circle area

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