Natalie’s son was born with XY chromosomes, an underdeveloped uterus, a half-formed ‘streak’ ovary (with a fallopian tube) on one side and an ovotestis (made up of both ovarian and testicular tissue) on the other. He also had hypospadias, where the opening that is usually at the tip of the penis is found on the underside. It’s a common DSD affecting between 1 in 200 and 1 in 300 boys.

With an overload of scientific information but a lack of helpful psychological support, Natalie’s main concern was whether she would bond with her baby. “Sex and gender isn’t important until there isn’t one,” she says. But when her child was born “blue and floppy”, Natalie knew straight away that it didn’t matter at all. “I just wanted him to breathe – and he breathed, and it was fine.”

The ability of doctors to diagnose DSDs and perform genetic testing is advancing rapidly, but the emotional management of the conditions hasn’t received the same focus or investment. Natalie faced avoidable problems. Despite all the information on her child’s condition in her medical notes, which she reminded various health professionals to read, they struggled to find ways to talk about her baby. Even the hospital’s birth database wouldn’t accept an entry unless the child was assigned female or male – which hadn’t yet been done for Natalie’s baby.

After several consultations, a geneticist explained to Natalie all the reasons that they were aware of for the ambiguity that the sonographer had found and some of the possible conditions the baby could have. “We were left a bit bewildered about that because obviously they were all of the things that could happen to our baby, not what would actually happen to our baby.”

“It was a textbook pregnancy to start with,” Natalie explains. Seven months into their third pregnancy, she and her husband decided to find out the sex of the baby. “We went for the scan, very excited, and I could see – having had lots of previous scans – that the sonographer could see the baby’s genital area. What I couldn’t work out was what she was looking at.”

“I think the medical side of things is phenomenal, but the emotional, psychological side of things is rubbish,” says Natalie*, a mother of a child with a DSD in England. Even at the larger, specialist hospital Natalie went to, she felt that she did not receive anywhere near the level of support needed when she and her husband had a baby with a DSD.

The Chicago consensus, while perhaps a list of good intentions, does not seem to have percolated down to frontline care in many cases. The lack of psychological support for parents of children with DSDs is particularly stark when considered alongside the recommendations outlined in the 10-year-old consensus document.

In this audio piece, three men talk about living with a condition that affects how the penis looks and works.

At eight days old, Oscar* was assigned male. Natalie was told that his reproductive tissues would never be capable of producing an egg or carrying a fetus, and at nine months they were removed as they were said to pose a high risk of causing cancer.

It’s very hard to have someone repeatedly telling you that there’s something wrong with your child

Oscar, now two years old, is partway down a long road of surgeries. The operations he’s had so far haven’t all been straightforward. He suffered sepsis after one and also has bladder problems unconnected to his DSD, which will mean further surgery in the future. But the operations Oscar has had, and will have in the near future, are all medically necessary, Natalie says. She’s not interested in cosmetic procedures to make him appear more typically masculine.

Debbie* and Jack’s* child was just a few hours old when a doctor walked around the curtain of the bay and asked for the unofficial birth certificate back. Debbie had been given the token soon after giving birth. “She said, ‘We don’t know if the baby is a boy or a girl,’” Debbie remembers. “It was pretty blunt, to say the least.”

Like Natalie, Debbie found the way medical professionals spoke to her about her child – let alone the lack of active support – very hard to deal with. “Constantly in the early days we were met with the terms ‘abnormality’ and ‘birth defect’, and it’s very hard to have someone repeatedly telling you that there’s something wrong with your child, that they’re somehow not normal, not perfect.”

Over the next few days, doctors examined Freddie* for various DSDs, including congenital adrenal hyperplasia (CAH), a genetic condition that affects boys and girls in equal numbers.

CAH is a condition in which the body can’t produce certain steroid hormones, such as cortisol, which can cause a build up of androgens – sex hormones that give rise to typically male physical characteristics. Children with CAH who have XX (typically female) sex chromosomes can develop ambiguous genitalia, such as an enlarged clitoris that resembles a penis. Children affected can also have abnormal salt levels in the blood, which can be life-threatening.

Debbie and Jack left the hospital when Freddie was four days old. Although they had the birth certificate back, they were advised not to register Freddie’s birth until they had some more concrete answers.

Initially a team of specialists at a children’s hospital seemed much more able to talk to Debbie and Jack openly. After a very brief look at Freddie the surgeon said that nothing needed to be done immediately as the child wasn’t at any immediate risk. Then the endocrinologist shared some initial test results. Freddie had XY – typically male – chromosomes, but they needed to wait for the full tests to come back to know more.

“It was very difficult obviously, at that point, for him to tell us anything. He just told us what we needed to do for various tests,” Debbie says. “We didn’t know whether he could produce testosterone, we didn’t know whether he would react to testosterone. There was a lot of uncertainty.”

The tentative results edged Debbie and Jack closer to the information they wanted, but they still had to live with big gaps in their knowledge. They still don’t have a firm diagnosis. Debbie asked whether any counselling or support groups were available, with no luck. “Nothing was ever offered, and when I asked, they couldn’t point me in the right direction.”

Medical professionals have a responsibility to talk to patients about both sides of the story, Callens says, to provide all the medical information available while being open about things that just aren’t yet known or understood. This is especially important in the long term. Having – or not having – this kind of information can shape how a parent forms a relationship with their child. It may play a part in making decisions about how to bring up the child. “I think the medical community sometimes does a little too little listening,” she says.