Features of Turner syndrome in patients managed at the adult endocrinology clinic, Steve Biko Academic Hospital

Authors

Keywords:

Turner syndrome, short stature, primary amenorrhea, primary infertility, diabetes, thyroiditis, osteoporosis, webbed neck, auto-immune diseases, hearing loss, scoliosis

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 0benefit from referral.

Author Biographies

M Noeth, University of Pretoria

Division of Adult Endocrinology, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa

T Kemp, University of Pretoria

Division of Adult Endocrinology, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa

T Botha, University of Pretoria

Department of Statistics, University of Pretoria, Pretoria, South Africa

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Published

2023-12-12

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Section

Original Research