Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development

Abstract

Background Progressive care improvement for differences of sex development (DSD), regarding diagnosis communication, psychological, medical and surgical management has been claimed. Aim of the study To assess clinical management, quality of life (QoL) and the general psychosocial adjustment of individuals with 46,XY DSD. Some differences related to age at diagnosis are investigated. Design Cross-sectional study using standardized questionnaires. Population Forty-three Caucasian females with 46,XY DSD (self declared diagnoses: complete androgen insensitivity syndrome, n = 34; complete gonadal dysgenesis, n = 1; 5α-reductase deficiency, n = 4; Leydig cell hypoplasia, n = 1; unknown diagnosis, n = 3; age years: 31.5 ± 9.6 [range 18–57 years]). Setting University Hospitals. Methods Subjects were required to fill in questionnaires (ABCL, WHOQOL, dedicated 17-item questionnaire). Academic and socioeconomic data were compared with those of the Italian population. QoL and psychological data were compared with those of a comparison group (46,XX healthy females: n = 43; age, years: 34.5 ± 9.7, range 22–51years). Results Present sample of women living with 46,XY DSD were well adapted and were higher achievers than controls, both in educational and professional life. They showed good QoL, but they appeared less satisfied in psychological and social areas. They had borderline mean scores and statistically higher scores than the comparison group for depression, anxiety, internalizing and externalizing problems. Younger persons living with a 46,XY DSD showed better psychosocial adjustment than older ones. Younger women showed lower age at diagnosis communication. Psychological support was more often proposed at the time of diagnosis communication to younger individuals, and they undertook it more frequently than older ones. Conclusions Italian people living with 46,XY DSD were well adapted and successful; they reported a good QoL but showed higher degree of psychological distress than the comparison group. Lower psychological distress in younger women could indicate some positive effects of changes in management.

Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference

“…Subsequently, however, others objected to ‘disorder' as a stigmatizing label, and at present many activists and some clinicians use ‘differences of sex development' as an alternative readout of the acronym [3]. As the present article focuses on individuals born with genital ambiguity, we employ the term DSD with this restriction implied, because not all of the psychosocial issues often associated with genital ambiguity apply to such syndromes as Turner's and Klinefelter's that are now included under the DSD category [1].…”

5-α Reductase Deficiency in Two Siblings: A Case Report

“…Testosterone has a high affinity for SHBG. Therefore, the elevated SHBG levels and decreased free testosterone levels account for the lack of virilization exhibited by the patients at puberty [11].…”

“…DHT has been shown to regulate plasma SHBG. Therefore, a lack of DHT would allow for elevated SHBG levels [11]. Higher levels of circulation SHBG decrease the amount of free circulating sex hormones.…”

“…Due to the lack of female internal organs, they are unable to have children of their own. The mental health of both women should be monitored since women living with 46,XY disorders of sexual development are more likely to develop depression and anxiety [11].…”

Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection

“…Research data indicate that DSD patients with social acceptability and career success are satisfied with their gender of rearing irrespective of sexual satisfaction or procreative ability. [60] Success achieved by sacrificing a few is more endurable than failure resulting from attempted preservation of all.…”