ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P1151 | DOI: 10.1530/endoabs.63.P1151

Psychological issues in turner syndrome

Matilde Calanchini1,2, Andrea Fabbri2 & Helen E Turner1


1Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospital NHS Trust, Oxford, United Kingdom; 2Department of Systems Medicine, Endocrinology & Metabolism Unit, University of Rome Tor Vergata, Rome, Italy.


Introduction: Turner syndrome (TS) affects 1/1700 female, is due to total/partial lack of an X chromosome and besides short stature and gonadal dysgenesis, is associated with several comorbidities. No defined psychiatric condition has been related to TS. However, several case-reports have appeared in psychiatric literature, and TS is reported to be three times more prevalent in schizophrenia compared with the general female population.

Aim: To evaluate the prevalence of psychological issues in a population of TS attending a specialist adult TS-clinic.

Methods: 140 TS women were retrospectively studied. Data on psychiatric history were collected using self-reporting and/or reported diagnoses, along with karyotype, age of TS-diagnosis, height, spontaneous menarche and autoimmune disease. To evaluate the patients’ own perception of psychological morbidity, questionnaires were submitted to women seen during a 6-months period (n=57), asking for their views on their need for psychological support.

Results: A total of 23/140 (16.4%) TS women had a DSM-5 defined mental-health related condition. Nine (39%) had 45,X, mean age at TS-diagnosis was 12 years, mean height 150.4 cm, two had spontaneous menarche and seven had Hashimoto thyroiditis. Six/23 had a diagnosis of major depression, one attempted suicide and one had a history of self-harm. All were treated pharmacologically, one with psychologist support. Six had a diagnosis of anxiety, one associated with panic attacks and two with depression. Two had to stop working due to anxiety. Two were referred to a psychologist; one with significant improvement in her symptoms. Four with diagnosis of alcoholism. Three diagnosed with anorexia, coexisting with depression in two. One needed multiple hospitalization. One with catatonic-schizophrenia and 1 with obsessive-compulsive disorder. One had attention-deficit hyperactivity disorder, one social awkwardness. Comparing women with and without a psychological diagnosis, no differences were found regarding karyotype, age of diagnosis, height, spontaneous menarche and autoimmune disease. Psychological support had been received by 26.3% (15/57), but 38.6% (22/57) considered it would be helpful now.

Conclusions: A high prevalence of mental-health disorder was found among adult TS with the majority of disorders being of depressive type. These results may underestimate the actual prevalence since a systematic assessment for psychological morbidity was not performed. Based on the patient’s own assessment almost 40% would find it helpful to receive psychological counselling. Clinicians should assess psychological comorbidity alongside annual monitoring for other associated conditions during the longterm follow-up of TS patients. Psychiatric consultation should be available as part of routine clinical practice.

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