Introduction
Turner syndrome (TS) is a condition seen in phenotypic females, which
results when one of the X chromosomes (sex chromosomes) is missing or
partially missing and has a prevalence of 1 in 2000 to 2500 live-born
female children
[1].
Clinical presentation varies significantly in Girls with TS especially
in those with lower degrees of mosaicism for monosomy X, who may not
present with the classic phenotype
[2].
Clinical manifestations of TS might include the following common signs
and symptoms: short stature, pubertal delay/ovarian insufficiency,
cardiac and renal abnormalities, sensorineural hearing loss,
ophthalmologic problems, thyroid abnormalities, metabolic syndrome,
inflammatory bowel disease, and neurocognitive issues
[3].
The diagnosis of TS can be established at a wide range of ages
[4,5].
Prenatally, the ultrasound findings of increased nuchal translucency,
cystic hygroma, left-sided obstructive cardiac anomalies (especially
coarctation of the aorta) in any fetus are highly suggestive of TS and
test to confirm the diagnosis prenatally by amniocentesis or chorionic
villous sampling is necessary
[6]. Webbed neck,
lymphedema, or coarctation of the aorta in infancy should prompt a
peripheral blood karyotype to rule out TS
[6]. However, several
girls have delayed diagnosis in late adolescence or early adulthood with
some estimates indicating that up to 38% of TS patients are diagnosed
in adulthood [7].
Diagnosis is made by sex chromatin [Barr body] detection and
chromosomal karyotyping is necessary for diagnosis and to identify the
fraction of ′Y′ chromosome elements.
The associations of TS with congenital heart disease have been described
widely in the literature. Up to one-third of the patients with karyotype
45, X may have coarctation of the aorta: In addition, patients with
hypertrophic cardiomyopathy, septal defects, dextrocardia, and anomalous
pulmonary venous drainage have been reported anecdotally
[8].
Bronchiectasis which is a disease that presents clinically with repeated
respiratory infections requiring antibiotics, disabling productive
cough, shortness of breath, and hemoptysis, has rarely been reported to
be associated with Turner syndrome in the medical literature
[8].
The disease primarily involves the bronchi and bronchioles described as
a vicious circle of transmural infection and inflammation with mediator
release, and it’s also related to retained inflammatory secretions and
microbes in the small airways that would cause obstruction damaging the
airway leading to recurrent infection
[9]. However,
treatment in clinical practice is still based on antibiotics, pulmonary
rehabilitation, and surgery in rare cases, a lot of new treatment has
been suggested over the last few years
[9].