The medical history (history of illness) represents an important component in the diagnosis of Turner syndrome. Family history Are there any hereditary diseases in your family? Do congenital malformations run in your family? Social history Current anamnesis / systemic anamnesis (somatic and psychological complaints) – also due toclarification of secondary diseases. Do you have a … Turner Syndrome: Medical History
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, height [short stature?]; further: Inspection (viewing). Skin and mucous membranes [marked amount and size of benign (benign) nevi (moles)?] Face [more extensive face?] Eyes [due tosecondary disease keratoconus (progressive, cone-shaped deformation … Turner Syndrome: Examination
1st order laboratory parameters – obligatory laboratory tests. Chromosome analysis – this can detect changes in the number as well as the structure of chromosomes (numerical/structural chromosomal aberrations). Detection of cell-free DNA (cfDNA test, cell-free DNA test), e.g.: NIPT (noninvasive prenatal test; synonyms: Harmony test; Harmony prenatal test). PraenaTest Note: For trisomy 21, the above … Turner Syndrome: Test and Diagnosis
Therapy goals Prevention of short stature Prevention of hormone deficiency symptoms or hormone deficiency diseases. Therapy recommendations From about the age of 6, growth hormones (STH) are usually used to prevent short stature. Hormone replacement therapy should begin at the age when puberty normally begins in girls (from age 12) and continue throughout life. Substitution … Turner Syndrome: Drug Therapy
Obligatory medical device diagnostics. Neck fold transparency measurement by sonography (ultrasound examination) – performed optimally between the 11th and 14th week of pregnancy; if the skull is larger than 45 mm, this may indicate the following other chromosomal disorders in addition to Turner syndrome: Trisomy 10, trisomy 13 (Pätau syndrome), trisomy 15, trisomy 16, trisomy … Turner Syndrome: Diagnostic Tests
Streak gonads (in mosaic 45,X/46,XY). In patients with the mosaic variant of Turner syndrome – that is, some somatic cells have the full chromosome set of 46 with the possible chromosome constellations of XX or XY, but others have a chromosome set of 45 due to the presence of only one X chromosome – streak … Turner Syndrome: Surgical Therapy
The following symptoms and complaints may indicate Turner syndrome: Pathognomonic (indicative of a disease). Short stature – average expected height (untreated): 147-150 cm. Uterine and vaginal hypoplasia – minor development of the vagina (vagina) and uterus (uterus). Streak gonads (strand gonads) – dysgenesis (malformation) of the ovaries (ovaries) → connective tissue strands; no to minor … Turner Syndrome: Symptoms, Complaints, Signs
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Noonan syndrome – genetic disorder with autosomal recessive or autosomal dominant inheritance that resembles the symptoms of Turner syndrome (short stature, pulmonary stenosis, or other congenital heart defects; Low-set or large ears, ptosis (visible drooping of an upper eyelid), epicanthal fold (“Mongolian fold”), cubitus valgus (abnormal position of … Turner Syndrome: Or something else? Differential Diagnosis
The following are the most important diseases or complications that may be contributed to by Turner syndrome: Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Aortic isthmic stenosis (ISTA; synonym: coarctation of the aorta: coarctatio aortae) – narrowing of the descending portion of the aorta; prevalence (disease incidence): 11%. Bicuspid aortic valve – heart valve defect, … Turner Syndrome: Complications
According to the ICD-10 (International Statistical Classification of Diseases and Related Health Problems), Turner syndrome is classified as follows, depending on the suspected etiology (cause): Q96.0: karyotype 45,X Q96.1: Karyotype 46,X iso (Xq) Q96.2: Karyotype 46,X with gonosome abnormality, except iso (Xq). Q96.3: mosaic, 45,X/46,XX or 45,X/46,XY Q96.4: Mosaic, 45,X/other cell line(s) with gonosome abnormality … Turner Syndrome: Classification
Pathogenesis (development of disease) Chromosomes are strands of deoxyribonucleic acid (DNA) with so-called histones (basic proteins within a nucleus) and other proteins; the mixture of DNA, histones, and other proteins is also called chromatin. They contain genes and their specific genetic information. In the human body, the number of chromosomes is 46, with 23 inherited … Turner Syndrome: Causes
General measures Avoidance of psychosocial stress: Bullying resulting in mental conflict and isolation. Regular checkups Regular check-ups are required under estrogen replacement therapy (TRT) and growth hormone therapy. Physical therapy (including physiotherapy) For lymphedema: Manual lymphatic drainage (ML). Training Training of the affected person as well as the relatives: Physical development – peculiarity of pubertas … Turner Syndrome: Therapy
