05/11/2012 10:56 GMT | Updated 22/05/2015 06:12 BST

Mum Told Her Newborn Baby Girl Might Be A Boy (But Docs Couldn't Be Sure For Three Months)

It's an, er! Mum told her newborn baby girl might be a boy (though docs couldn't be sure for three months) Caters

When Emma Sohrabian was told she'd given birth to a baby girl, she couldn't wait to tell family and friends. But then, to her total disbelief, the doctors changed their minds.

In fact, they weren't actually sure whether Emma's new baby was a girl OR a boy. And even worse, they said they wouldn't know for certain for another three months.

Emma, 35, from Oxford, said: "I didn't understand what they were talking about. I was also mortified - I'd told everyone I'd had a baby girl and I'd registered her birth when she was a few days old.

"At my 20 week scan I asked to find out the sex so I knew I was having a girl. I had everything for her. It was all pink and girlie - even her room."

Doctors explained Aolani was showing signs of having a rare genetic condition called Congenital Adrenal Hyperplasia, which affects just one in 15,000 births. It can be life-threatening because sufferers don't have the enzyme needed to make the hormones cortisol and aldosterone.

Without these hormones, the body produces more androgen, a type of male sex hormone. This can cause enlarged genitals, which is what led doctors to question Aolani's sex.

Dr Fiona Ryan, a consultant in Paediatric Endocrinology and Diabetes at John Radcliffe Hospital, Oxford, where Aolani was born, explained: "Congenital adrenal hyperplasia is caused by a genetic mutation, usually inherited from both parents.

"Individuals with CAH are deficient in a hormone called cortisol and lack of this hormone can be life threatening, especially during illness or after an accident.

"In the most common form of CAH androgen hormones are produced in excess and this can cause ambiguous genitalia at birth and difficulty in knowing if a baby is a boy or a girl."

Aolani, who is now 14 months old, was born 15 weeks prematurely. Her mum suffered placenta previa during her pregnancy, a complication where the placenta grows in the lowest part of the womb, and doctors had to perform an emergency Caeserean section.

During the birth, Aolani's heart stopped beating and she had to be resuscitated. Her mother also lost 14 pints of blood and needed several transfusions.

Aolani, who weighed just 2lb when she was born, spent the first three months of her life in intensive care.

Emma said: "I thought she had got through the worst then they dropped this big bombshell.

"I had already been through enough without having this chucked at me as well. I'd never heard of this condition but they told me both parents had to be carriers.

"When they explained how dangerous it could be, I was terrified. I didn't know what to do or think."

She faced an anxious wait before tests showed Aolani was a girl and she was later allowed to take her home.

However, she is still waiting for the results to find out if her daughter has congenital adrenal hyperplasia - a rare genetic condition that causes enlarged genitals.

If Aolani does, she can be given treatment to help manage the condition. She could also have surgery to help correct the abnormal appearance of her genitals.

Emma said: "It's quite personal for her so it's something for her to decide when she's older.

"Before Aolani, I'd suffered a misscarriage so having her is a gift.

"Even if Aolani was a boy she would have been perfect to me. She's my beautiful little girl. It just took me by surprise.

"All I want is for her to be a happy, healthy baby."