Artykuł powstał we współpracy z Sandoz Polska Sp. z o.o. SPEAK/MED/61/06-2020

ABSTRACT

Diagnostic and therapeutic management of Turner syndrome

Turner syndrome is a genetic syndrome in girls associated with complete or partial monosomy of chromosome X that is present in all or only some cell lines. The consequences include a short stature and abnormalities in the course of sexual maturation. It is estimated that 80-100 neonates are diagnosed with Turner syndrome in Poland annually. The wide range of health problems encountered in individuals with Turner syndrome means that they need to have access to multispeciality medical care.

This article describes the clinical presentation of Turner syndrome and discusses the phenotype-karyotype correlation. A short stature is seen in 95-100% of patients with Turner syndrome, making it the most prominent manifestation. Accordingly, much space in the article is devoted to the strategy for treating short stature, and particularly the use of recombinant growth hormone in hormone therapy to improve adult body height. The author also proposes a scheme for monitoring patients with Turner syndrome on the basis of the relevant literature and her own experience.

Piśmiennictwo

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