Delayed Turner syndrome diagnosis risks later psychosocial difficulties

Eleanor McDermid
J Pediatr 2018; Advance online publication
01 May 2018

medwireNews: Receiving a Turner syndrome diagnosis after the age of 12 years increases the risk of patients later developing depression and substance use problems, and may also affect their competence, research suggests.

This underscores the importance of paediatricians karyotyping girls with “unexplained short stature, amenorrhea, pubertal delays, or other Turner syndrome-related features”, say Martha Bernad Perman (National Institutes of Health, Bethesda, Maryland, USA) and study co-authors.

The researchers assessed 110 women with Turner syndrome, aged an average of 42 years (range 22–69 years) at the time, of whom 52 were diagnosed at the age of 13 years or older and 58 were diagnosed at younger ages. They used the cutoff of 13 years to indicate early versus late diagnosis, because it “represents the national average age of menarche onset and a posited vital age for identity development”.

The team found that significantly more women diagnosed late (at a median age of 16.3 years) had mild to severe (as opposed to minimal) depressive symptoms on the Beck Depression Inventory-II, at 40.4% versus 12.1% for those diagnosed early (median age of 1.5 years). Women with late diagnoses also had higher average scores for depressive symptoms than those with early diagnoses, despite which they had a slightly lower rate of physician-diagnosed depression, at 19.2% versus 22.4%.

Women diagnosed late had significantly higher scores for alcohol and drug use on the Profile of Adaptation to Life-Medical assessment, along with significantly lower scores for income management.

The findings “highlight the need for pediatricians to regularly screen for depressive symptoms and substance use in all females with Turner syndrome, especially those who received a diagnosis at or after 13 years of age”, say the researchers.

Women with late diagnoses rated themselves lower for competence on the Occupational Self-Assessment than those with early diagnoses did. This association did not persist after accounting for patient variables; however, therapists also rated the competence of late-diagnosed women lower than that of early-diagnosed women on the Occupational Performance History Interview-II, and this persisted after adjustment.

The researchers observe in the Journal of Pediatrics that “[t]he pursuit of available treatment offers a sense of control over a chronic disorder”.

“Early diagnosis may permit the timely induction of puberty, allowing girls with Turner syndrome to develop secondary sex characteristics alongside their peers”, they write. “Additionally, previous reports identified a positive relationship between growth-promoting treatments and self-perception of intelligence and attractiveness in girls with Turner syndrome.”

However, women diagnosed late were significantly less likely to have used growth hormone (GH) than those diagnosed early, at 19.2% versus 50.0%. Among those diagnosed early, women who had used GH were on average 7.5 cm taller than those who had not.

“Those diagnosed early have the potential to benefit from improved body image through growth-promoting treatments, as opposed to those with a late diagnosis, who likely missed the age at which GH treatment is most effective”, says the team.

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