Family history (medical history) is an important component in the diagnosis of Klinefelter syndrome. Family history Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). What symptoms have you noticed? High growth? Lack of male hair? Increasing obesity? Small testicles/penis? Infertility? Enlargement of the mammary … Klinefelter Syndrome: Medical History
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Prader-Labhart-Willi syndrome (PWS; synonyms: Prader-Labhard-Willi-Fanconi syndrome, Urban syndrome, and Urban-Rogers-Meyer syndrome) – genetic disorder with autosomal dominant inheritance occurring in approximately 1 in 10,000 to 1 in 20. 000 births occurs; characteristic are, among other things, a pronounced overweight with a lack of a sense of satiety, short … Klinefelter Syndrome: Or something else? Differential Diagnosis
The following are the most important diseases or complications that may be contributed to by Klinefelter syndrome: Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Positional anomalies of the testes (testes). Respiratory system (J00-J99) Bronchiectasis (synonym: bronchiectasis) – persistent irreversible saccular or cylindrical dilatation of the bronchi (medium-sized airways) that may be congenital or acquired; symptoms: … Klinefelter Syndrome: Complications
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body weight, height [increasing obesity in adulthood, which is most evident on the trunk (so-called truncal adiposity)]; furthermore: Inspection (observation) [tall stature with large hands/feet but small head; lack of typical male hairiness]. Skin and … Klinefelter Syndrome: Examination
1st order laboratory parameters – obligatory laboratory tests. FSH [↑↑↑] LH [elevated LH levels correlate with decreased testosterone; however, these often remained elevated even after testosterone levels normalized] Testosterone (determination in the morning) [normal or ↓] Rapid cytology (detection of the Barr corpuscle corresponding to the inactivated supernumerary X chromosome; sensitivity (percentage of diseased patients … Klinefelter Syndrome: Test and Diagnosis
Therapeutic target Improvement of symptomatology Therapy recommendations Initiation of testosterone therapy when: The clinical symptoms make it necessary and. Serum levels fall below the normal limit of 12 nmoL/L total testosterone and/or 250 pmoL/L free testosterone Indication of clinical symptoms and testosterone levels are: Loss of libido and drive: < 15 nmol/L. Hot flashes and … Klinefelter Syndrome: Drug Therapy
Medical device diagnostics are usually not required for diagnosis. Optional medical device diagnostics – depending on the results of the history, physical examination, and obligatory laboratory parameters – for differential diagnostic clarification. Sonography (ultrasound examination) in cryptorchidism (absent testis in the scrotum). Osteodensitometry (bone density measurement).
Gynecomastia Gynecomastia can be treated surgically if it causes distress. The surgical procedure is usually performed through a short incision at the edge of the areola, through which the glandular tissue and any excess body fat is removed.
The following symptoms and complaints may indicate Klinefelter syndrome: Leading symptoms Delayed development of secondary sexual characteristics (beard growth and secondary sexual hair are sparse) and puberty. Gynecomastia (enlargement of the mammary gland; up to one third of cases). Small, firm (hardened) testicles (volume: 2-3 ml). Small penis Primary infertility in the 47,XXY karyotype: 90% … Klinefelter Syndrome: Symptoms, Complaints, Signs
Pathogenesis (development of disease) Individuals with Klinefelter syndrome have an extra X chromosome (47, XXY) in 80% of cases, which is due to nondisjunction during gametogenesis (germ cell development). In 20 % cases mosaic forms (mos 47, XXY /46, XY) are found, i.e. not the same karyotype (appearance of a chromosome set) is present in … Klinefelter Syndrome: Causes
Conventional nonsurgical therapy methods For individuals who wish to have children, the following forms of artificial insemination can be performed, depending on the severity of Klinefelter syndrome: In case of oligospermia – in vitro fertilization (IVF), if necessary, spermatids extracted from testicular biopsy (TESE; testicular sperm extraction, which means that a tissue sample is taken … Klinefelter Syndrome: Therapy
