ESPE Yearbook of Paediatric Endocrinology

J Nurs Res. 2019 Mar 7. DOI: 10.1097/jnr.0000000000000313

• This qualitative study evaluated the physical and emotional experiences of 13 adults living with disorders of sexual development (DSD) at a tertiary care center in Nigeria.

• Diagnosis of DSD is frequently delayed in LMIC resulting in development of ambiguous physical traits and features.

This is one of the first studies to report on patients’ experiences of living with a DSD in a West African country where diagnoses are frequently delayed until pubertal development or sexual ambiguity becomes obvious in late adolescence or adulthood, and where a male gender assignment in patients with a 46 XX DSD may be more common. Participants in this study had CAH (n=6, 3 raised as female, 3 raised as male), androgen insensitivity syndrome (n=3, all raised female), ovo-testicular DSD (n=2, both raised male), Mayer-Rokitansky-Kuster-Hauser syndrome (n=1, raised female) and Turner syndrome (n=1, raised female).

In this setting where sex education is not routine and lay knowledge about normal female and male puberty is limited, menses is seen as a tell-tale sign of being a “real” or “normal” woman and emerged as the central theme for both female and male participants. In females, the absence of menstruation was mostly experienced as a disappointment and elicited feelings of incompleteness. Women associated amenorrhea to a lack of fertility and, as such, a lack of the ability to function as a woman in society. The six males seemed to fare worse than the females in that onset of menses elicited fear, anxiety, depression, and suicidal ideations. This was linked to perceptions of stigma and fear about social labelling and their fate in society. Positive coping in a minority of women resulted from beliefs, such as God having a special plan for them, or women with amenorrhea being “special”, and likened to women in paradise who do not need to menstruate.

The study highlights the high level of distress and stigma experienced by patients with DSDs in Nigeria, a finding that is likely to translate to many other settings. Further research is needed to determine whether increased awareness of DSDs, earlier diagnosis, and improved psychosocial support of patients and families can improve physical, mental and social health outcomes in this population.