Algorithm identifies missed Turner syndrome cases in electronic health records

medwireNews: An algorithm-based search of the electronic health records of girls with idiopathic short stature (ISS) can identify those with overlooked Turner syndrome, a study shows.

Six per cent of the girls identified by this means proved to have Turner syndrome on microarray analysis, the researchers report.

But Eirene Alexandrou (Cincinnati Children’s Hospital Medical Center, Ohio, USA) and team note that the study “was performed at a large academic center with a specialized Turner syndrome clinic on a referred population”, and suggest that more cases might be identified “in the general clinic setting”.

They add: “Extrapolating these data to a larger scale suggests that the diagnosis of Turner syndrome may be delayed for many female patients with ISS, even after evaluation in endocrine clinics.”

Click here to read a commentary from Martin Savage on this research.

The team identified 216 girls with ISS in their institution’s electronic health records. From within this cohort, the algorithm found 189 girls whose height was more than 1 standard deviation from their mid-parental height (target height), 72 of whom had not undergone genetic testing.

The researchers highlight that this large proportion of untested girls with ISS goes against current guidelines, demonstrating “that gaps between recommended practice guidelines and provided care continue to exist”.

The difference between the girls’ current and target height standard deviation scores (SDSs) was less for those who were untested than for those with a known karyotype, at –1.99 versus –2.28, “suggesting that clinicians were falsely reassured by the milder presentation of patients in whom a karyotype was not performed”, write Alexandrou and colleagues in the Journal of Pediatrics.

Among the 32 previously untested girls with samples available, microarray analysis detected two cases of Turner syndrome (6%), both of whom had mosaicism, and one girl with a copy number variant causing short stature (3%).

Both Turner syndrome patients had been seen by an endocrinologist, when they had height SDSs of –2.77 and –2.10, which were respectively 2.42 and 1.0 below their target height SDS. In one girl, the short stature was put down to poor nutrition related to medication for attention deficit/hyperactivity disorder; the other girl was invited to undergo karyotype testing but was then lost to follow-up.

The study authors emphasise the importance of routine screening of all girls with ISS for Turner syndrome, but also highlight a role for decision-support tools in reminding endocrinologists to do so.

“Automated reminders elicited by algorithms programmed into the [electronic health record] can prompt physicians at the point-of-care to recall information they already know but may overlook in a busy setting and apply this to their clinical decision making”, they say.

The team adds: “These decision support systems also would be of significant value in the primary care setting, as there is a known bias in growth referrals toward male patients that may overlook serious pathology in female patients.”

By Eleanor McDermid

medwireNews is an independent medical news service provided by Springer Healthcare. © 2019 Springer Healthcare part of the Springer Nature group

Martin Savage
Programme Director
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