Abstract:
BACKGROUND : Turner syndrome is a multisystem disease with varied clinical features influenced by genetic composition and
possibly ethnicity.
OBJECTIVE : To review local data and identify the clinical features more common in our population.
METHODS : A retrospective review of the clinical, biochemical features and karyotype of all patients with a confirmed diagnosis of
Turner syndrome receiving treatment at the adult endocrinology clinic, Steve Biko Academic Hospital, was performed.
Seventeen patients with complete data sets were identified.
CONCLUSION : Our population group had a higher percentage of mosaic Turner syndrome than that described in the literature.
The clinical features also differed significantly from the classic features described, with the exception of the universal presence
of short stature and hypogonadism. This may explain the delayed age of diagnosis. Screening programmes are necessary, and
the consistent finding of short stature can be used as a screening tool in early childhood to identify more patients who will
benefit from referral.
