Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines

Abstract

A woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening.Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed. Clinicians should be aware of the clinical features and associated complications of Turner syndrome to avoid delayed diagnosis and missed opportunities for treatment.In this report, we discuss the clinical features of this rare syndrome and current guidelines for screening and treatment. We stress the importance of peer-to-peer support and information sharing through patient-led groups, such as the Turner Syndrome Support Society.

A Diagnosis of Turner Syndrome in the Eighth Decade of Life

“…Although most individuals with TS are diagnosed in their mid-teens, there remain instances of delayed diagnosis (and likely nondiagnosis). Howarth et al reported a 50-year-old newly identified patieint with TS during COVID after she received a shielding letter from the UK government ( 6 ). Originally diagnosed with TS as a neonate, she was subsequently lost to follow-up.…”

“…Originally diagnosed with TS as a neonate, she was subsequently lost to follow-up. At age 18 years she was investigated for delayed puberty and primary amenorrhea, with laparoscopic findings of a small uterus but was not initiated on hormone therapy ( 6 ). In addition to a genetic diagnosis of TS, she had comorbidities of hypertension, type 2 diabetes, recurrent otitis media, and reduced bone density ( 6 ).…”

“…At age 18 years she was investigated for delayed puberty and primary amenorrhea, with laparoscopic findings of a small uterus but was not initiated on hormone therapy ( 6 ). In addition to a genetic diagnosis of TS, she had comorbidities of hypertension, type 2 diabetes, recurrent otitis media, and reduced bone density ( 6 ). In Korea, a 61-year-old was diagnosed with TS after presenting with right-sided heart failure and an echocardiogram demonstrating bicuspid aortic valve with moderate aortic stenosis ( 7 ).…”