Academic journal article Hong Kong Journal of Psychiatry

Turner's Syndrome with Mental Disorders Resembling Schizophrenia and Affective Disorder

Academic journal article Hong Kong Journal of Psychiatry

Turner's Syndrome with Mental Disorders Resembling Schizophrenia and Affective Disorder

Article excerpt

Abstract

This paper reports the clinical characteristics of patients with Turner's syndrome and mental disorder, as evidenced by 5 patients managed at the Tianjin Anding Hospital, along with 12 patients reported in the Chinese medical literature. Schizophreniform psychosis was the most common psychiatric diagnosis made, while presentation resembled bipolar affective disorder in a smaller number of patients. The aetiology, typology, and treatment of this disorder is outlined. The importance of recognising characteristic physical features of Turner's syndrome in the psychiatric clinic in order to reach a definitive diagnosis and implement appropriate psychiatric treatment is highlighted.

Key words: Chromosome abnormalities, Gonadal dysgenesis, Karyotyping, Mental disorders, Turner's syndrome

Introduction

Turner's syndrome is also referred to as congenital ovarian agenesis. The typical chromosome karyotype is 45,X. Some studies have reported that patients with 1 surplus X chromosome (Klinefelter's syndrome) frequently have associated mental and behavioural disorders. (1-3) Patients with Turner's syndrome suffering from mental disorders have been reported sporadically in the literature. In the past, these patients have often been misdiagnosed with schizophrenia or affective disorder. (4-9) In order to investigate the clinical characteristics of patients with Turner's syndrome and mental disorder, the details of 5 patients managed at the Tianjin Anding Hospital are reported, along with findngs in 12 patients reported in the Chinese medical literature. (4,6,7-13)

Clinical Features

General Information

Five patients with Turner's syndrome and mental disorders were identified among patients seen at the Tianjin Anding Hospital. They were examined by 2 psychiatrists during their hospital stay and underwent routine laboratory tests, standard neuropsychological examinations, gynaecological examination, X-ray and B-mode ultrasonic scanning studies, electroencephalography (EEG), and dermatoglyphic and cytogenetic tests. Information on the other 12 patients was obtained from Chinese medical literature sources. All patients met the International Classification of Diseases Tenth Revision (ICD-10) criteria for Turner's syndrome. They were all Chinese people of the Han race.

All 17 patients were of female phenotype. Mean age at onset of mental disorder was 21.5 years (range 17 to 38 years, SD, 6.6 years). The mean age at which a definitive diagnosis was made was 23.8 years (SD, 6.6 years), meaning that, on average, diagnosis was determined 2.3 years after onset. Mean duration of mental illness was 2.7 years (range, 1 month to 8 years, SD, 2.6).

Among the 15 patients treated in hospital, 8 were diagnosed with schizophrenia, depression, or reactive psychosis, while the remaining 7 were diagnosed with mental disorder secondary to Turner's syndrome. Two further patients were treated in the outpatient department. Three patients had been married, but were infertile. None of their parents or grandparents had a history of sibling marriage. One patient had a cousin of short stature, and one a grandmother and an aunt with a history of psychosis.

Physical Manifestations

The majority of patients were of short stature. Mean height for the group was 1.38 m (range, 1.24 to 1.40 m, SD, 0.06 m). Mean weight of the patients was 36.9 kg (range, 24 to 48 kg, SD, 8 kg). Other physical manifestations identified in this group of patients are summarised in Table 1.

Secondary Sexual Characteristics

Abnormalities in secondary sexual characteristics identified among the patients are listed in Table 2. Gynaecological examination and B-mode ultrasonic scanning of 1 patient showed that the vagina was short and narrow. Of 16 patients in whom the uterus was examined by ultrasound, 15 showed uterine agenesis with the uterus resembling a strip, broad bean, peanut, or soybean in appearance. …

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