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

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.

Disorders of sex development — new terminology and new recommendations for therapeutic management

Określenie zaburzenia rozwoju płci (ZRP) jako termin medyczny pojawiło się stosunkowo niedawno. Wystąpienie zaburzeń w różnicowaniu płciowym, skutkujące nieprawidłowościami w budowie zewnętrznych i/lub wewnętrznych narządów płciowych, dotąd określano terminami obojnactwo, interseksualizm, czy hermafrodytyzm, które pacjenci i ich rodziny uznawali za stygmatyzujące i wywołujące cierpienie psychiczne. Stąd zrodził się pomysł wprowadzenia bardziej neutralnej terminologii. W 2006 roku opublikowano konsensus zawierający propozycje wprowadzenia nowej klasyfikacji oraz postępowania w przypadkach ZRP. Konsensus wypracowali eksperci z amerykańskiego towarzystwa Lawson Wilkins Pediatric Endocrine Society (LWPES) oraz europejskiego European Society for Pediatric Endocrinology (ESPE). Zaproponowana przez nich definicja obejmuje wszelkie wrodzone zaburzenia, w których nieprawidłowy jest rozwój płci chromosomalnej, gonadalnej, genitalnej, fenotypowej i psychicznej. Równocześnie z nowym nazewnictwem, w ramach konsensusu zaproponowano najbardziej optymalne zalecenia diagnostyczne oraz terapeutyczne. Nadal trwają jednak prace nad niebudzącym wątpliwości algorytmem postępowania u dzieci i dorosłych z ZRP.Disorders of sex development (DSD) as a medical term appeared relatively recently. Disorders of sex differentiation resulting in abnormalities in external and/or internal genitals were called hermaphroditism or intersexuality, and were regarded by patients and their families as stigmatizing and causing mental suffering. Thus was born the idea of a more neutral terminology. In 2006, a consensus with proposals to introduce a new classification and treatment for DSD was published. The consensus was established by experts from the American Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE). The new definition includes all inherited disorders in which there is abnormal development of the chromosomal, gonadal, genital, phenotypic and psychic sex. Attempts to develop more optimal diagnostic and therapeutic recommendations are being made simultaneously with the new definition. However, work is still underway to develop an unambiguous algorithm in children and adults with DSD