Jacinta agreed to the plan but needed time to raise funds, so we scheduled a review in one month.
Results
When she returned, her results told a striking story: Pelvic ultrasound: No uterus or ovaries visualized; Hormones: Within normal limits for a female; Karyotype: 46, XY.
In other words, genetically Jacinta was male, but phenotypically she appeared female. The most likely diagnosis: Complete Androgen Insensitivity Syndrome( CAIS).
Understanding AIS
AIS is a rare X-linked condition where individuals with XY chromosomes are resistant to androgens. Despite producing testosterone, their cells cannot respond due to defective androgen receptors. The result is feminization of external genitalia.
• Complete AIS( CAIS): Fully female external appearance, no uterus or ovaries, undescended testes.
• Partial AIS( PAIS): Varying degrees of ambiguous genitalia.
Incidence: approximately 1 in 20,000 live births.
Key features of CAIS include: Primary amenorrhoea; Absent or sparse pubic / axillary hair; Normal breast development( from aromatization of androgens into estrogen); Blind vaginal pouch; Intra-abdominal or inguinal testes.
Breaking the News
I asked Jacinta to return with a family member for the next consultation. She came with her mother, Mama Jacinta. After seeking Jacinta’ s permission to speak openly in her presence, I gently explained the results.
“ Jacinta, your genetic test shows that even though you look like a girl, your chromosomes are male. Your body cannot respond to male hormones, which is why you developed the way you have.”
The room went dead silent. Jacinta broke down in tears, overwhelmed by the reality. Her mother wept quietly beside her. This was one of the most difficult conversations I have ever had as a clinician. Breaking such news is not just about medical facts- it is about identity, dignity, and an entire life perspective.
Management Plan
After giving them time to process, I explained the way forward:
MRI scan- to locate the undescended testes.
Multidisciplinary team involvement- gynecologist, endocrinologist, urologist, psychiatrist, psychologist, geneticist.
Gonadectomy- removal of testes, as intra-abdominal testes carry a high risk of malignancy.
Hormone replacement therapy( HRT)- to maintain secondary sexual characteristics and bone health.
Reconstructive options- breast augmentation and vaginoplasty if desired for function and psychosocial well-being.
Psychosocial support- ongoing counseling for both Jacinta and her family.
Indeed, further imaging revealed intraabdominal testes, which were surgically removed. She later underwent breast augmentation and vaginoplasty, and was started on HRT.
Reflections on Challenges
This case raised many challenges beyond the strictly medical:
Identity and Gender
Jacinta had grown up as a girl, identified as female, and lived her life as such. Despite the genetic findings, she continued to embrace her female identity. Medicine must respect this choice.
Fertility
AIS patients lack a uterus and ovaries, making pregnancy impossible. Options include surrogacy with donor eggs or adoption. This is often another devastating reality for patients.
Sports Participation
Jacinta was a talented volleyball player. The issue of athletes with DSD competing in women’ s sports is hotly debated, with arguments about“ unfair advantage.” But in her case, insensitivity to androgens meant she derived no athletic boost from testosterone. Should she compete with men, where she has no androgen advantage, or with women, where her physiology aligns? These are ethical questions without easy answers.
Social Stigma
Jacinta faced mockery from peers even before her diagnosis. Imagine the additional stigma if confidentiality were not safeguarded. Part of our role is to protect, support, and empower such patients.
Wider Lessons on DSD
Cases like Jacinta’ s remind us of the complex spectrum of sex development. DSDs are rare, but they carry profound psychosocial implications. They highlight the difference between: Sex( chromosomes, gonads, hormones); Gender identity( self-perception); and Gender roles( societal expectations). Every patient deserves individualized, compassionate care.
Conclusion
Jacinta’ s story is not just about AIS- it is about resilience, identity, and the power of multidisciplinary care. Medicine is often thought of as science alone, but here it intersects with psychology, ethics, and human dignity.
As I reflect on her case, I remain grateful that she accessed the care she needed. With counseling, surgery, and hormonal support, she has a future in which she can live fully as the woman she knows herself to be.
Disorders like AIS challenge us as clinicians, forcing us to move beyond the textbook and consider the person in front of us- their hopes, fears, and identity.
And perhaps, that is the true essence of gynecology: not just treating reproductive organs, but walking with patients through some of the most intimate, defining journeys of their lives.
Dr. Maureen Owiti is a practicing Obstetrician Gynaecologist and fertility consultant based in Nairobi. You can commune with her on this or related matters via email at: Drmaureenowiti @ gmail. com.