Age at and indication for diagnosis of Turner syndrome in the pediatric population

Abstract

Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve outcomes, but many are still diagnosed late. The objectives of our study were to describe the age and clinical features leading to diagnosis of TS in a large referral center. We hypothesize that newer testing modalities, such as noninvasive prenatal testing (NIPT), may lead to a decline in the age of diagnosis. Medical records of TS patients followed at The Cincinnati Center for Pediatric and Adult TS Care between 1997 and 2016 were reviewed for age at diagnosis, karyotype, and clinical indication(s). Patients (<18 years) were included (n = 239). Thirty‐seven percent of patients were diagnosed prenatally or neonatally (≤1 month). The median age of diagnosis was 1.5 (IQR 0.0–10.0) years. If not made during those periods, the median age was 9.3 (IQR 3.2–12.5) years. The most common indications for diagnosis were before birth, unspecified prenatal testing (57%); in neonates/infants, lymphedema (21%); in childhood, short stature (72%); and in adolescence, short stature (45%) followed by pubertal delay with short stature (22%). The age of TS diagnosis in our cohort is young. However, when the diagnosis is not made before 1 year, the median age of diagnosis has not changed in recent years. The age at diagnosis could decrease with prenatal testing, although our study may not have assessed a long enough period of increased use of NIPT. Together with an increase in provider clinical awareness, this may result in more age‐appropriate screening of comorbidities and earlier therapeutic intervention.

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

“…First, our study required a karyotype‐confirmed diagnosis to reduce false screening findings, which resulted in the exclusion of cases diagnosed through other screening methods or based on clinical signs without a karyotype. Additionally, there is a well‐known delay in Turner syndrome diagnosis (Swauger et al, 2021), which means that our study likely represents the prevalence of early diagnosis of Turner syndrome. Since half of Turner syndrome cases are diagnosed after the first year of life, our findings might reflect potential selection bias toward more severe phenotypes and might not be generalizable to individuals diagnosed later in life.…”

Reproductive health in Turner syndrome: A narrative review

“…The median age at the TS diagnosis varies across case series 14 but is often delayed with peaks occurring perinatally, and at childhood and adolescence. Median ages at diagnosis were 1.5 years (range prenatal to 18 years) in a USA paediatric clinic cohort ( n = 279), 15 age 10 (range birth to age 61) 15 in a UK clinic cohort ( n = 799), and age 14 (range 0–65 years) 16 in an Australian clinic cohort ( n = 82). Twelve percent of adults attending a dedicated TS clinic reported their diagnosis occurred after 18 years of age 16 .…”

“…Late diagnosis delays oestrogen replacement, often missing peer appropriate pubertal development, and increases the risk of long-term morbidities. 3,15 The implications of undiagnosed/under diagnosed TS in those of childbearing age, and for their reproductive care providers, are significant due to both maternal and fetal implications. 6…”

A qualitative study utilizing Interpretative phenomenological analysis to explore disclosure in adolescents with turner syndrome

“…The age at which girls are diagnosed can therefore vary, from the antenatal period through to adolescence, depending on which features are evident (Apperley et al., 2018). A recent study which collected data from the medical records of TS patients between 1997 and 2016 found that the median age of diagnosis was 1.5 years, with a range of −0.5 (prenatal) to 18 years old (Swauger et al., 2021). However, if girls were not diagnosed within 1 year of life, the median age increased to 9 years, indicating diagnosis may be delayed if not identified early in life.…”

“…Understandably, the age at which a girl receives her diagnosis shall impact upon how the condition is disclosed or discussed with her. Given that nearly half (46%) of girls receive their diagnosis within the first year of life, it is likely that their parents or guardians will have been involved in the disclosure process (Swauger et al., 2021). Those diagnosed later in life will likely have been informed by a health care professional, potentially at the same time as, or with their parents there for support.…”