Kenyan teenage girl finds out she’s genetically male

She has begun hormone replacement therapy at MP Shah Hospital in Nairobi.

by JOHN MUCHANGI

Health04 April 2025 - 13:30

In Summary

For many such girls, one of the saddest thing about their condition is knowing they may never go through many of the rites of passage to become a woman – periods, big boobs, cramps.

As the years of high school slipped by, Jane* watched with anxiety as her friends blossomed into women, one by one –and she did not.

Her body remained defiant. She only grew taller than her friends but did not develop any breasts and did not menstruate.

Her parents insisted that she was just a late bloomer.

By the time she joined university at 19 years, the breasts had slightly formed but the nipples and areolas (the area around the nipples) were not raised. No menstruation yet.

Jane (real name changed to protect identity), who was accompanied by her mother, visited the MP Shah Hospital in Nairobi in January last year seeking answers.

The rest of her body – including her voice, physique and external genitalia – is perfectly that of a woman.

She underwent more than ten tests that revealed that although she is physically a woman, she has been genetically male all her life.

Dr Christian Omoaghe, an endocrinologist who attended to Jane, explains how someone can be physically female but genetically male.

The condition is known as Swyer syndrome and occurs in approximately one in 80,000 people.

He said girls with Swyer Syndrome usually go undiagnosed until they fail to hit puberty.

For many such girls, the saddest thing about their condition is knowing they may never go through many of the rites of passage to become a woman – periods, big boobs, cramps.

The full interview with Dr Omoaghe is published here.

“In society we have men and we have women. But in medicine, we have three types of sex. We have the chromosomal sex, the biological (physical) sex, and the gender,” he explained.

Jane has chromosomal sex that is different from her biological sex.

Humans have 23 pairs of chromosomes, with one pair being the sex chromosomes, designated as X and Y.

Dr Omoaghe explained that in most cases, females inherit two X chromosomes, one from each parent, resulting in the XX combination.

On the other hand, males inherit one X chromosome from their mother and one Y chromosome from their father, resulting in the XY combination.

It is the Y chromosome that triggers the development of testes and male reproductive organs, making someone a boy.

“But sometimes there may be clashes where a child has XY, but he is born [physically] a girl,” he explains.

“She should have been a male, but was born with female genitals, like this particular client. I would say ‘she’, because in terms of gender now, she is now 19.”

Chromosomes are visible through a microscope, where they appear as threads inside the cell.

“So Swyer Syndrome is one of those conditions where the Y chromosome is there, but for reasons we call mutations, something destroys its ability to cause the body to create testes and other male organs. So by default the body becomes female. So the child develops as a female,” he explained.

To put it simply, if a girl with Swyer syndrome were to perish in a fire and their body was burned beyond recognition, DNA tests would show it was a boy.

This syndrome is properly known as “46, XY Complete Gonadal Dysgenesis”. Many Kenyans would know it by the older term intersex, which is an umbrella word for disorders of sex development.

Unfortunately, for many women with Swyer syndrome, they do not develop the full female characteristics. For example, they have no ovaries.

Jane’s case, which has been documented in the Wiley Clinical Case Reports journal with her and her family's consent, shows she has a little womb, a vagina, but no ovaries.

“Her external genitalia appeared normal, although the vaginal length was not determined because her mother declined consent,” the case report shows.

Jane and her family have been counselled and told what to expect.

Dr Omoaghe suggests how her condition may have occurred.

She has three siblings and no one in the family history has this condition.

“Her pedigree suggested that the mutation was a de novo mutation, although genetic studies of her parents and siblings would be valuable in confirming the genetic basis of her condition,” he wrote in the paper titled “46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kenya.”

This means her condition is likely not inherited from either parent, but rather arose spontaneously during the formation of sperm or egg cells, or in the fertilised egg itself.

In the interview with Star, the endocrinologist explained the use of contraception during pregnancy could also trigger such a mutation.

Dr Omoaghe explained there is an opportunity to trigger menstruation for Jane and also for her to carry pregnancy through a donated egg.

However, surgery to remove the underdeveloped gonads is recommended because there is a high risk they could become cancerous.

She has been counselled on this, but had not consented to the surgery by the time her case was published in December last year.

Jane has since started oestrogen replacement treatment.

“She was started on a combined contraceptive pill (Femiplan) which contains 0.03 mg of ethinylestradiol and 0.15 mg of levonorgestrel and experienced withdrawal bleeding in the third cycle,” her doctor said.