Baby girl from Nigeria gets treated for rare disorder at city

A 15-month-old girl from Nigeria suffering from a rare genetic condition which was cause of much pain and agony for herself and her family now has doctors at a city hospital to thank for returning the smile to her face.
Oranye Chimweokwu Sayne, the baby girl from Nigeria, had a rare genetic condition which saw her clitoris growing at an alarming rate within 15 months of birth.
The clitoris was enlarged and was progressively increasing in size with every passing month. Worried and anxious after the initial treatment of her daughter failed to yield results, Sayne's mother Chisom Oranye decided to fly her to India for consultation.

Sayne's clitoris had by the time grown to an alarming penile shape, her appetite had decreased and her weight had dropped to 6-kg (the weight of a five-month-old baby).
On August 13, they arrived at Max Super Speciality Hospital, Shalimar Bagh, where she met Dr Vaishakhi Rustagi, consultant, Paediatric Endocrinology.
After going through Sayne's case, Rustagi diagnosed her condition as congenital adrenal hyperplasia.

"Clitoromegaly is an abnormal enlargement of the clitoris which is in most cases congenital. In the human body, the adrenal gland above the kidney helps in maintaining glucose and blood pressure and controls hormones.
"When one of the enzymes, 21-Hydroxylase, that helps in the control of hormones, is deficient in a newborn's body, it creates a blockage in the production of cortisol (which helps in maintaining glucose) and aldosterone (which helps in maintaining blood pressure).

"The deficiency of 21-Hydroxylase enzyme also results in a startling increase of testosterone in the child's body. If the child is a girl, it leads to an abnormal enlargement of the clitoris which, if not diagnosed in time, can also grow into a penis," explained Rustagi.
As the abnormal growth of a clitoris into a penis is the only physical symptom in a female child, the condition often goes amiss in boys and results in the death of the male child in most of the cases.
According to Rustagi, the deficiency of 21-hydroxylase is seen in one in 2575-6813 cases in India and, as the condition is genetic, the chances of the gene being passed on in consanguine relationships (marriage between two blood relatives of the same blood) are higher.

Rustagi immediately put Sayne on hormonal medication to control her glucose, which was being produced at a minimal rate, and her low blood pressure was brought to normal. Within 10 days, her weight increased by 500-gm and her appetite returned.
As her clitoris had grown by 3-cm to an almost penal shape, Sayne was scheduled for a vaginoplasty on August 26. During the surgery, normal female genitals were formed and the enlarged clitoris was brought back to its normal size maintaining its function.
Today, Sayne's weight has increased to 7.2-kg and she is no longer in pain. She is a healthy and bonny child who is back to her cheerful self and will be flying back to her country soon.