Approach to the Patient: Diagnosis and Treatment With Growth Hormone of Turner Syndrome and Its Variants

Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female individuals. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants.

This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow, and growth hormone (GH) treatment strategy of TS and its variants.

A 9.0-year-old patient of TS variant with tall target height (+2.03 SD) but low height velocity (3.6 cm/y) and height (-1.33 SD) was evaluated as an example. Reports of patients similar to the index patient were systematically searched for in MEDLINE and EMBASE and summarized. A diagnosis workflow and scores for risk assessment of GH treatment (RiGHT scores) for TS variants were also proposed in this study.

According to the diagnosis workflow, the girl's karyotype was confirmed as 46,X,der(X)t(X;7)(p11.3; p14.1), and was evaluated as low risk using RiGHT scores. After 2-year GH treatment, she had a significantly increased height (-0.94 SD). Additionally, a total of 13 patients from 10 studies were summarized, characterized as short stature, growth retardation, craniofacial abnormalities, disorders of intellectual development, and psychomotor delays. Risk assessment of GH treatment using RiGHT scores was also applied in these 13 patients.

The patients with Xp deletion caused by unbalanced X-autosome translocations should be considered as TS variants. The diagnosis workflow and RiGHT scores is a useful approach for clinicians in addressing complex cases of TS variants with GH treatment in clinical practice.