Gyn Chronicles
Disorders Of Sexual Differentiation( DSD): Focus On Testicular Feminization( Androgen Insensitivity Syndrome)
By Dr. Maureen Owiti
Introduction
Welcome back to Gyn Chronicles. Usually, I prefer writing about common conditions that many women face in their reproductive lives. But every so often, a case comes along that compels me to reflect more deeply- something rare, life-altering, and filled with both medical and human lessons. The story on this particular publication is about Disorders of Sexual Differentiation( DSD), with particular focus on Androgen Insensitivity Syndrome( AIS), also known as Testicular Feminization.
This account, drawn from my clinical practice, is fictionalized to protect patient confidentiality, but the lessons are real.
The Encounter
It was a just another routine morning, filled with antenatal visits and follow-ups for common gynecological complaints. In walked Jacinta( not her real name). At first glance, two things stood out about her: she was tall, lean, and strikingly beautiful.
As clinicians, we sometimes play a quiet guessing game- trying to predict why a patient has come before they speak. Jacinta looked about 20 years old, had come alone, and I assumed it might be something related to her periods- perhaps painful cramps or irregular cycles.
“ Welcome, Jacinta,” I greeted her warmly.“ My name is Dr. Owiti. How can I help you today?”
Her eyes brimmed with tears. In a shaky voice, she said:“ Everyone makes fun of me. I don’ t have breasts like other girls, and I have never had my periods.”
History Taking
With gentle reassurance, I invited her to share more. Jacinta was an accomplished volleyball player, otherwise healthy, with no family history of chronic illness. She had never menstruated, not even once since birth.
Androgen Insensitivity Syndrome( 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.
This raised a red flag: primary amenorrhoea, defined as failure to start menstruating by age 15-16 in the presence of normal secondary sexual characteristics, or by 13 in their absence. In contrast patients with secondary amenorrhoea have experienced menstruation and present with a prolonged period without menstruation and are nor pregnant.
Examination
On physical examination, several things became clear: Minimal breast development( Tanner stage II); Absence of pubic and axillary hair; Normal female-appearing external genitalia; A blind-ending vaginal pouch with no palpable cervix.
She identified fully as female, as that was her upbringing and gender identity.
Initial Thoughts
My mind ran through the differential diagnoses of primary amenorrhoea: Müllerian agenesis( MRKH syndrome); Gonadal dysgenesis( e. g., Turner syndrome); Constitutional delay of puberty; Pituitary or hypothalamic causes; Disorders of Sexual Differentiation( such as AIS).
The next logical step was to order investigations.
Investigations
I requested: Pelvic ultrasound- to check for uterus, ovaries, or gonads, Hormonal profile- including LH, FSH, estradiol, testosterone, and Karyotype- to determine chromosomal sex.
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