Vol 71, No 2 (2020)
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Published online: 2020-02-28

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The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome

Katarzyna Bajszczak1, Maria Szarras-Czapnik2, Renata Walczak-Jędrzejowska3, Katarzyna Marchlewska3, Jolanta Slowikowska-Hilczer3
Pubmed: 32129466
Endokrynol Pol 2020;71(2):168-175.


Introduction: Patients with disorders/differences of sex differentiation/development (DSD) are exposed to physical and mental suffering. The aim of the study was to assess the following: the mental health status and the risk of mental problems in adult DSD patients, their dependence on therapeutic procedures, and to identify groups of disorders that require particular psychological support.

Material and methods: The study involved 59 patients with DSD (gonadal dysgenesis — GD, androgen insensitivity syndrome — AIS, 5-alpha reductase deficiency, ovotestis), and with the Y chromosome in the karyotype, aged 16–65 years. All completed the General Health Questionnaire (GHQ-28) for the assessment of their mental health status. Raw results were converted into sten scores using norms for the Polish adult population to assess the risk of mental problems.

Results: A high risk of mental problems was identified in 24% of individuals (26% men, 21% women). Women, when compared with men, displayed a significantly higher mean level of anxiety and insomnia (7.3 vs. 4.6 scores) and somatic symptoms (7.4 vs. 5.5), and worse general mental health status (25.6 vs. 18.8). The most disturbing symptoms were observed among patients with complete and partial AIS, and complete GD (general mental health status: 39.5, 24.3, and 24.2, respectively), women lacking a vagina (27.2), and without an enlarged clitoris (27.5). Patients after genital surgery had significantly fewer somatic symptoms (5.4 vs. 7.8; p < 0.05) and better general mental health status in comparison to those without surgery (20.1 vs. 24.9; p < 0.05). No significant differences were observed between patients using hormone replacement therapy and those who were not.

Conclusions: The individuals with DSD and Y chromosome in the karyotype have increased risk of developing mental problems in comparison to the general Polish population. The risk factors seem to be as follows: female gender, the lack of a vagina, the lack of virilisation (no enlarged clitoris), and no genital operations performed. In some cases, sex hormone replacement therapy may be also the risk of mental problems. Particularly vulnerable groups are CAIS, PAIS, and CGD. The psychological support and an individual approach to particular needs of these patients is necessary. 

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