Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines.
BMJ Case Rep
; 15(8)2022 Aug 17.
Article
in English
| MEDLINE | ID: covidwho-1992987
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.
Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Turner Syndrome
/
COVID-19
Type of study:
Case report
/
Diagnostic study
/
Experimental Studies
/
Prognostic study
/
Randomized controlled trials
Topics:
Long Covid
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
English
Year:
2022
Document Type:
Article
Affiliation country:
Bcr-2022-250870
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