Makindo Medical Notes

Related Subjects: | Osteoporosis | Autosomal Dominant | Autosomal Recessive | X Linked Recessive

Girls with Turner's syndrome have only one X chromosome, making them more vulnerable to X-linked diseases such as Haemophilia.

About

• Turner syndrome affects approximately 1 in 2,500 females and is characterized by a missing X chromosome (45,XO or 45,X).
• Less severe forms can occur as mosaics (45,X/46,XX), where a portion of cells have a normal karyotype.

Cardiovascular

• Increased risk of Bicuspid Aortic Valve and Coarctation of the Aorta, leading to hypertension.
• Aortic Root Dilatation: Regular echocardiography is recommended to monitor the aorta due to the risk of aortic dissection.

Clinical Features

• Short Stature: Not due to growth hormone (GH) deficiency but may benefit from GH therapy.
• Physical Features: Wide carrying angle, shield-shaped chest, and webbed neck.
• Distinctive Traits: Low-set ears, widely spaced nipples, and lower limb lymphedema.
• Cognitive Function: Generally normal intelligence, but may face challenges with socialization and impaired visuospatial skills.
• Hearing: Increased risk of sensorineural hearing loss.

Endocrine

• Gonadal Dysgenesis: Absence of functional ovarian tissue leading to infertility.
• Ovarian Streaks: Underdeveloped ovaries often accompanied by a lack of menstruation (primary amenorrhea).
• Low Estrogen Levels: Requires hormone replacement therapy (HRT) with oral estrogens to induce puberty and maintain bone health.
• Bone Health: Increased risk of osteopenia and osteoporosis due to low estrogen levels.

Management

• Oestrogen Therapy: Initiates puberty but must be managed carefully to maximize height potential before epiphyseal fusion occurs.
• Growth Hormone Therapy: Can be used alongside estrogen therapy to achieve additional height (up to 5 cm gain).
• Gonadectomy: Required for those with 45,XO/45,XY mosaicism to reduce the high risk of gonadoblastoma.
• Multidisciplinary Care: Regular follow-ups with cardiologists, endocrinologists, and geneticists are essential for comprehensive management.

References

• A Personal Story: My life with Turner Syndrome