A mother was left in utter disbelief after doctors could not tell her for three months whether her baby was a boy or a girl.
Aolani Argyle appeared to have female genitals, and doctors later confirmed that she was a girl. However, when she was born doctors had said that they weren't sure of the baby's sex and needed to conduct tests.
After three months, doctors finally confirmed that Aolani was in fact a girl.
Emma Sohrabian, Aolani mother, said that she was "mortified" when doctors didn't know her child's sex.
"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," Emma said, according to the Daily Mail. "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."
Emma said that doctors explained that Aolani was showing signs of a rare genetic condition called Congenital Adrenal Hyperplasia that affects just one in 15,000 births.
There is currently no cure for Congenital Adrenal Hyperplasia, a disease that can be deadly because patients with the condition don't have the enzyme needed to produce the hormones cortisol and aldosterone. In the absence of cortisol and aldosterone, the body produces more male sex hormone androgen, which can cause enlarged genitals, leading doctors to question Aolani's sex.
Aolani, who is now 14 months old, was born 15 weeks too early. During her pregnancy her mother had suffered placenta previa, a condition where the placenta grows in the lowest part of the womb and doctors had to perform an emergency C-section.
During the birth, the newborn's heart had stopped beating and Aolani had to be resuscitated. Aolani was born weighing only 2 pounds and she spent the first three months of her life in intensive care.
"I thought she had got through the worst then they dropped this big bombshell," Emma said. "I had already been through enough without having this chucked at me as well."
Emma said that she had never heard of the condition, and she said she was terrified when doctors explained the danger her baby was in.
"I didn't know what to do or think," she said.
She had to wait three anxious months before tests showed that Aolani was a girl and she was later allowed to take her daughter home. However, Emma is still waiting for the doctors to tell her whether her daughter has Congenital Adrenal Hyperplasia.
If Aolani does indeed have Congenital Adrenal Hyperplasia, doctors can provide her with treatment to manage the condition.
Aolani may also have surgery in the future to help correct the abnormal appearance of her genitals.
"They didn't go into too much detail about it. It's quite personal for her so it's something for her to decide when she's older," Emma said, according to the Daily Mail.
"Before Aolani, I'd suffered a miscarriage 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," she said. "All I want is for her to be a happy, healthy baby."
Published by Medicaldaily.com