Urinary Tract Infections (UTIs) and Recurrent UTIs

Definition

• Turner syndrome is a genetic disorder in females caused by partial or complete absence of one X chromosome, most commonly 45,XO

• It results in gonadal dysgenesis, oestrogen deficiency and multisystem involvement

____________________________________

Pathophysiology

• Loss or abnormality of one X chromosome leads to underdeveloped ovaries and deficient oestradiol production

• Degree of mosaicism influences variability in phenotype and severity of clinical features

____________________________________

Presentation

• Short stature; average adult height approximately 143 cm

• Delayed puberty and primary amenorrhoea due to gonadal failure

• Characteristic physical features such as a webbed neck, low hairline, and extra neck skin

• Broad chest with widely spaced nipples

• Congenital cardiac anomalies including coarctation of the aorta and bicuspid aortic valve

• Additional findings may include puffy hands and feet, and subtle skeletal abnormalities

• Learning difficulties, particularly in spatial awareness and mathematics, with potential social challenges

____________________________________

Diagnosis

• Confirm with karyotype analysis showing 45,XO or mosaicism

• Elevated FSH and LH levels indicating gonadal failure; low oestradiol levels confirm oestrogen deficiency

• Cardiac screening with echocardiography and endocrine evaluations are recommended as part of the diagnostic workup

• Consider screening for associated autoimmune thyroid disease and hearing assessment

____________________________________

Management

• Initiate growth hormone therapy in childhood to optimise adult height

• Start oestrogen replacement therapy to induce puberty, develop secondary sexual characteristics and maintain bone health, continuing until the age of natural menopause

• Regular cardiovascular monitoring including blood pressure assessment and echocardiography for early detection of congenital heart disease

• Provide multidisciplinary psychosocial support to address learning difficulties, emotional challenges and social integration

• Offer regular follow-up for endocrine and metabolic monitoring, including bone density assessments

• Contraceptive counselling is necessary as hormone replacement therapy is not contraceptive

____________________________________

Notes

• Turner syndrome can be diagnosed prenatally via CVS or amniocentesis, or later in childhood due to growth failure and pubertal delay

• Fertility is significantly impaired; spontaneous ovarian function is rare, and assisted reproductive techniques with donor oocytes may be considered

• Early and coordinated intervention with growth hormone and timely initiation of oestrogen replacement are key to optimising long-term outcomes

• Long-term surveillance should include regular screening for cardiovascular disease, autoimmune disorders and osteoporosis

• A multidisciplinary approach involving endocrinologists, cardiologists, genetic counsellors and psychologists is essential for comprehensive care