Shahar Madjar, MD

Whether a person will become a man or a woman is determined by a series of fateful, dramatic events that take place well before birth.

Doctors call the process where the sex of a person is determined ‘sexual differentiation’. It happens like this: In the fetus, both men and women have primitive gonads–these are the anatomical structures that would turn into either testes (male gonads), or into ovaries (female gonads).

Men have an X-chromosome and a Y-chromosome. Women have two X- chromosomes (they have no Y-chromosome). The process of sexual differentiation is signaled by a gene on the Y-chromosome. This gene, the SRY gene, carries the information–encoded in its DNA molecules–necessary for the gonads to develop into testes.

The testes produce testosterone which signals the development of the Wolffian duct from which the typical male genitalia develop. In the absence of a Y-chromosome, a different process ensues: the gonads develop into ovaries and the typical female phenotype develops with fallopian tubes, a uterusְ, and a vagina.

Remember Vera, the other girl with the dragon tattoo, I told you about–the young woman who, as a teenager, etched on her right shoulder a dragon in her own image with an angry fire breathing out of his nostrils and a missing tail? Yes, the same Vera who presented at age 31 asking the doctor for help. “I never got a menstrual period,” she told the doctor, and “when I was a teenager, the doctor told me that I don’t have a uterus, and that I will never be able to have children.” Vera was looking for an explanation for her condition, perhaps even a solution. Her doctor translated her quest into a simple question: what has gone awry in Vera’s process of sexual differentiation? they asked.

Encountered with any complex medical riddle, doctors go into a ‘differential diagnosis mode.’ They ask themselves what the causes for the condition are, and then, by way of elimination, or deduction, they arrive at the most likely explanation.

Vera’s condition could have been the result of a defect in the synthesis of testosterone. The body produces testosterone in a rather complex process. Any defect in the enzymes participating in testosterone production could lead to a lack of testosterone and altered sexual differentiation. But Vera’s testosterone levels were high.

Vera’s condition could have been the result of a defect in the development of her Müllerian duct (the structure that develop into the fallopian tubes, uterus, cervix and the upper part of the vagina). But patients with that condition–called the Mayer-Rokitansky-Kuster-Hauser Syndrome–do have ovaries, and when they hit puberty their breasts develop, and hair grows in their pubic area and in their armpits. Vera did not have normal ovaries (a surgery her doctors performed to remove Vera’s gonads, revealed testes instead). And she lacked pubic hair.

The doctors considered other diagnoses, but only one diagnosis could explain Vera’s condition. It is called Androgen (or testosterone) Insensitivity Syndrome. Normally, testosterone would be produced in the gonads and released into the blood stream. It would then attach to a specific receptor (an androgen receptor) in the cells in its target tissues and “tell” the cells what they should “do”, and how they should “behave.”

Patients, like Vera, with Androgen Insensitivity Syndrome have an X-chromosome and a Y-chromosome like a normal man would have. Their gonads are producing testosterone like in a normal man. But due to a mutation in the gene that encodes for the receptor for testosterone, the message that would normally be delivered by testosterone does not translate into a proper response. The Wollfian duct doesn’t develop, and patients end up having female-appearing external genitalia but no uterus.

The news hit Vera hard. Her initial response was to never tell her husband. But then, once several days had passed, the truth became a burden she could no longer carry alone. She called Chuck, her husband, to the living room. “I have something to tell you,” she said, and then continued her story. Chuck listened. He saw the pain in Vera’s eyes. He told her he accepted her the way she is, and that no matter what her chromosomes say, she is as much of a woman as she had always been.

Through an in-vitro fertilization (using an egg from an egg-donor) and a surrogate carrier (a woman who carried and delivered the baby), Vera and Chuck had a baby girl.

A year later, Vera returned to “Ink — Tattoos for Life.” The man who etched the dragon tattoo on her right shoulder was no longer working there. “Can you add a tail to my dragon?” She asked the woman at the front desk. She felt whole as a woman, and she wanted her dragon tattoo to reflect just that.

Editor’s note: Dr. Shahar Madjar is a urologist working in several locations in the Upper Peninsula. Contact him at smadjar@yahoo.com or at DrMadjar.com.