The nine months are up, the labour over, the baby born. The excited new parents ask whether it’s a boy or girl.
The medics and midwives don’t answer. They’re hesitant, confused. They can’t tell.
This baby has ambiguous genitalia — neither typically male nor typically female.
Crumlin Children’s Hospital sees two or three new DSD (disorders of sexual development) cases each year, where baby isn’t immediately identifiable as boy or girl.
Doctors and midwives in the delivery room are under pressure, says paediatric endocrinologist Dr Colm Costigan.
“There’s great temptation to guess at the infant’s sex but we teach them not to hazard a guess. Ambiguity means you don’t know. You have to delay assigning gender until you know the details.”
This means tests — and waiting for results. Ultrasound gives an immediate picture of baby’s internal reproductive structures. A blood test assesses hormones and is back within 48 hours.
A chromosome test indicates whether the child is genetically female (XX) or male (XY) — results may take five days.
Not surprisingly, parents are extremely stressed.
“First thing they’re asked after the baby’s born is whether it’s a boy or girl,” says Dr Costigan, adding that parents are advised to keep news of the ambiguity quiet.
“We recommend they keep it as close in family as possible, not to broadcast it widely, to delay saying anything, just ‘there’s a minor abnormality and we have to go to Crumlin to get it sorted’.”
At this early stage, parents will already have had it explained to them that “for some reason, there’s delay in the development towards male or female — we want to work out what that delay is, why there’s this ambiguity”.
DSD (also referred to as intersex) is an umbrella term for about 40 different conditions, where a person is born with reproductive or sexual anatomy that isn’t typically male or female.
For example, among myriad intersex variations, a baby could be chromosomally female but genitally appear to be male — or chromosomally male, with male genitals, but have ovaries instead of testes.
It’s believed 1.78% of the population have an intersex variation. Only a small percentage of these again, are born with ambiguous genitalia.
Realisation that someone isn’t typically male or female can emerge at different life stages.
Perhaps in adolescence when the body doesn’t develop in the expected way, or when first intimate with a sexual partner. Or someone’s trying to conceive and investigations reveal no womb — and testes instead of ovaries.
In Crumlin, the most commonly seen DSD-causing ambiguous genitalia at birth is congenital adrenal hyperplasia — genetic females exposed to high levels of androgens (male hormones from the adrenal gland), in the womb.
Depending on exposure levels, the child’s clitoris could be slightly or very enlarged. A blood test, specific to the condition, is done immediately.
“If it’s mild, we try not to do much in the way of surgery,” says Dr Costigan.
“These children need cortisone therapy for life. Once cortisone treatment begins, there’s improvement in the appearance [of female genitals]. The child is reassessed after a few months to see if surgery’s needed to reduce clitoris size.”
The child is monitored every three months through childhood because of the cortisone therapy.
Prior to onset of menstruation, “there might be need for vaginal surgery to increase size of [vaginal] opening”.
Crumlin’s DSD team comprises paediatric endocrinologists, clinical psychologist, expert radiologist, paediatric urologist, and clinical geneticists. Because of the “difficult decisions” needed, the team meets for peer review every three months.
Professor Peter Hindmarsh of Great Ormond Street Hospital attends the meeting. Where a DSD is severe and surgery is mooted, the case is brought before the peer-review meeting, “to make sure we’re reaching the right decision”.
Parents attend too — “they’re usually very accepting of the decision made in the best interests of the child”.
For more complicated rare surgeries, “we send children abroad,” says Costigan.
Surgery — generally to make genitals compatible with chromosomal sex — happens less today than 10-15 years ago, he adds.
“People are more careful about doing surgeries because of the possible effect on subsequent sensitivities and nerve supplies. People are becoming more circumspect. That’s a good thing.
“As time goes on and people with DSD grow up, we realise the consequences of radical surgery. Results from some of the earlier surgeries weren’t as good as hoped.”
Mid-20th century advances in surgical techniques and hormone treatments made it possible to eradicate external evidence of intersexuality — to ‘make’ someone either male or female, says Dr Tanya Ní Mhuirthile, director of DCU’s Socio-Legal Research Centre.
The most prolific advocate for this was US-based Dr John Money, specialist in psychology of sex at the Gender Identity Clinic of Johns Hopkins Hospital in Baltimore.
Other countries followed this example — doing routine gender assignment surgery on intersexed infants.
Ní Mhuirthile says their reconstruction as either male or female helped ‘disappear’ intersex from the social consciousness. The majority were assigned female on the basis it’s easier to cut away tissue than graft new tissue.
Intersex activists see an analogy between female genital mutilation (cutting for social/cultural reasons) and some gender assignment surgeries, she says.
“They say cutting is for the same reasons — that these surgeries are rarely medically necessary to safeguard a child’s physical health.”
She has spoken with a handful of Irish people with intersex variations — some had ‘corrective’ surgeries.
“Once the first surgery happens, you have to keep going back. Outcomes can be poor. Scar tissue doesn’t grow at the same rate. People’s intimate lives are negatively impacted because of pain. People feel freakish.
“If treated in a teaching hospital, every junior doctor is trotted past. There are awful stories of people subjected to this medical parade.”
Parents often have to administer post-surgery care, says Ní Mhuirthile.
“If you enlarge the vagina, [it must be kept] open through dilation. Or the penis may need regular stretching, which a child wouldn’t be able to do.”
Last year, the European Union Agency for Fundamental Rights (FRA) found intersex people “experience fundamental rights violations ranging from discrimination to medical intervention without their consent”.
In at least 21 member states, medical intervention is conducted on children to impose a sex on them at a young age.
In eight member states, legal representatives can give consent; in 18, parental consent is required.
The report advises member states should “avoid non-consensual ‘sex-normalising’ medical treatments for intersex people”.
The UN repeatedly sanctions countries where children with intersex variations undergo surgical/medical interventions, because children aren’t consenting to these interventions.
The UN Committee on the Rights of the Child sanctioned Ireland this year — because, says Ní Mhuirthile, “Ireland can’t clarify whether/how the State protects bodies of children with an intersex variation.
“It’s not just surgeries. Giving hormones can irreversibly impact the child.”
Nobody — parents or doctors — sets out to hurt the child.
“Everybody’s trying to do their absolute best for the child. But just because we think something’s best doesn’t mean it is. A doctor might say: ‘There’s something [wrong] but we can do something to fix it.”
"Nobody likes hearing there’s something wrong with their child even if the ‘wrongness’ is entirely benign. We don’t want our children to be bullied — our instinct is to ease their path in life.”
The tragedy is that in trying to save the child trauma, trauma’s exactly what can ensue.
Births in Ireland must be registered within three months — a child’s sex must be recorded. Late registration — up to a year — is permitted only with registrar’s consent.
These timelines put huge pressure on parents to consent to interventions, which, with more time, they mightn’t have done, says Ní Mhuirthile.
Also “nudging them towards a decision” reflects how everything’s broken down on gender grounds in Ireland.
“From the school you attend to whether you play hurling or camogie, our innate assumption that everybody’s either male or female is so inherent we don’t question it,” says Ní Mhuirthile.
TENI (Transgender Equality Ireland Network) communications manager Gordon Grehan says intersex is one of Ireland’s last taboos.
“There’s this silence. We don’t talk about it. We don’t hear about it. There’s little awareness intersex people exist.”
He says it must be extremely difficult for parents unable to answer the “boy or girl” question.
“There’s no support around what to do. There’s no peer support group.”
While TENI advocates on behalf of intersex people, it’s not in itself an advocacy organisation for intersex.
“It’s a struggle to find intersex people to be advocates.”
When TENI organised a talk about intersex issues, they invited a speaker from IntersexUK to speak here. The silence, says Grehan, must mean many intersex people feel isolated.
Contributing to the silence, he believes, is scant understanding about how to talk about intersex.
“There’s much debate about what words to use, whether it’s a medical or identity issue.”
Other factors help keep it under the radar. Grehan has met Irish people who describe being subjected to medical intervention throughout childhood, a feeling of needing to be ‘fixed’.
“The monitoring to see whether they were developing, whether things were ‘normal’ — it’s all very traumatic, not something they want to talk about.”
Others don’t realise they’re intersex — they have internal structures they’re unaware of (ovaries, testes) or very subtle intersex variations.
Yet others had medical intervention when young and their gender identity matches their assigned gender.
“They see it as medical history and don’t identify as intersex.”
Some want to protect parents, who “can feel shame if they feel they made a decision they shouldn’t have. [Intersex] children may feel an obligation not to make parents feel bad.”
In Crumlin, parents are advised to answer their child’s questions in an age-appropriate way.
“If parents accept and understand the situation, they’re able to answer the child’s questions. If not, if they discourage or back away from the questions, it can all be a big shock at the end,” says Dr Costigan.
Clinical psychologist Dr Lisa Brinkmann, who specialises in sex- and gender-related concerns, says it’s always been difficult for Irish society to talk about sex and gender.
“Think of the standard rural Irish family 20 years ago — if a small child looked or behaved slightly differently, or at puberty things didn’t develop as expected. It would have been a huge taboo.”
Intersex patients who seek her out for counselling are adults whose intersex variation wasn’t realised until puberty. Some describe how menstruation didn’t arrive — a GP appointment was made followed by gynaecological referral and ultrasound.
They were “given a fancy name” — perhaps gonadal dysgenesis — to explain the absent periods.
“The girl mightn’t question it much. Fourteen years ago, the internet wasn’t as available.”
Brinkmann says it’s only beginning to be realised “that we’ve overlooked intersex people. Ireland hasn’t yet got clearly written standards of care for intersex.”
She was recently invited to inform an LGBTI steering group in the south-east with little knowledge of the ‘I’. Following Brinkmann’s visit, a national study to identify incidence of intersex was proposed.
A HSE spokesperson confirmed that the steering group “surveyed public health nurses in the south-east, as they’re the group who see all newborn babies in the course of their work — no child/person with intersex/DSD was identified.
“A decision was made to write to Crumlin Children’s Hospital to enquire about prevalence of intersex/DSD and services available to this group.”
The spokesperson confirmed there are currently no plans to do a national study. Ní Mhuirthile emphasises the need for such a study.
“We need to know how the medical community is treating intersex people. How are they being registered at births? Are they applying for gender recognition? Are they out? Do they feel they need to hide it? What supports are there for people with intersex variations and their families?”
In essence, we need to know what happens medically, legally and socially for people with intersex conditions in Ireland.
DSD/intersex can be distinguished in different ways: by underlying karyotype (chromosome set) — whether genetically male or female; by whether condition shows immediately at birth; or by whether it doesn’t become apparent until puberty.
Here are the five most common DSD/intersex conditions
Embryo at conception has XX chromosome. Due to enzyme-deficiency in mum, baby is exposed to higher levels of androgens (male hormone). At birth, baby is genetic female but genitalia are masculinised.
Degree depends on how much exposure to male hormones — some children with CAH won’t appear on the radar, while others are so severe they’re classed male at birth.
Embryo has XY chromosome, is genetic male. Due to receptor deficiency, body can’t make use of testosterone. Baby doesn’t develop in typical male way in the uterus and, at birth, looks typically female with vagina and clitoris. Nobody suspects baby’s genetically male.
Questions aren’t asked until puberty when expected development (eg periods) doesn’t happen. With partial AIS, some receptors fail to respond but others do. At birth, this child presents with ambiguous genitalia.
Child is genetically male (XY), testosterone is produced, but at birth baby looks like a girl with vagina and clitoris.
At puberty, dihydrotestosterone is produced: Child starts developing as male: Clitoris starts to grow as penis, voice drops, male pattern hair growth. These children mainly identify as male when puberty happens.
baby is XY – condition is to do with a chromosomal abnormality. No sex development happens in the embryo. (Until week seven of gestation, all babies look the same until, under influence of certain androgens, male development begins). Baby remains in female ‘default’.
At birth, they appear female. Those with the pure type of this condition don’t develop at all at puberty. They are usually tall, slim and look quite androgynous. Those with the mixed type of the condition may have ambiguous genitalia at birth.
This is the rarest of all five. Ovarian and testicular tissues may be present or XX and XY cells in the body. Clinical psychologist Dr Lisa Brinkmann had a patient in Germany, whose entire left body had XX chromosomes, while the right side had XY.
“She had a breast on one side, one hand was significantly larger than the other.”