[Source: Newsroom]
Ms. Su (pseudonym)
, who has just entered her forties in Shenzhen, Guangdong, has a 15-year-old daughter Duoduo (pseudonym)
Mother and daughter are like "best friends"
traveling together Shopping, eating delicious food, gossiping
...
However, this summer
a cruel reality gave them a hard blow
Since Duoduo has not had her period, Ms. Su recently took her to the hospital for examination, but The diagnosis came as a surprise: the sweet and adorable daughter turned out to be a boy.
The endocrinology team of Shenzhen Nanshan District People's Hospital (hereinafter referred to as "Nanshan Hospital") diagnosed the child with a rare chromosomal recessive genetic disease, namely 17α-hydroxylase deficiency, due to androgen deficiency. Sexual reversal occurred.
The 15-year-old daughter has not had her period
A search revealed that she has a male body
The 15-year-old Duoduo is tall, sweet-looking, obedient and sensible, and has excellent academic performance. She is the darling of the family.
However, in the past two years, Ms. Su noticed that Duoduo had never had her period and her breasts showed no signs of growth. "Both my husband and I are developing normally, and our Duoduo is usually well-nourished, so there should be no problem with her development." Ms. Su was puzzled.
So, she took Duoduo to Nanshan Hospital for a check-up. The gynecological color ultrasound showed "no uterus and ovary development"; the chromosome test result was 46, xy.
This is a normal male chromosome
. The normal female chromosome should be
"46, xx", right?
Could it be that the lab results are wrong?
After repeated confirmation by doctors, Duoduo's chromosomes are indeed "46, xy". This means that Duoduo is chromosomally a boy.
"How is this possible? For more than ten years, Duoduo has been a girl. Her personality, appearance and external genitalia are all girl's characteristics." This result gave her mother a hard blow and it was hard to accept.
After a doctor's examination, it was discovered that Duoduo did have testicles hidden in the groin, and her external genitalia appeared to be female.
The body lacks an enzyme
A multidisciplinary team worked together to diagnose and treat
After examination, the doctor found that
Duoduo lacked a special enzyme in the body
- 17α-hydroxylase
The doctor introduced that 17α-hydroxylase The lack of sex hormone synthesis will lead to androgen deficiency.
The Endocrinology Department of Nanshan Hospital immediately took the lead in setting up a multidisciplinary diagnosis and treatment team covering gynecology, urology, psychiatry, and radiology to formulate a systematic and complete treatment plan for Duoduo, including the suppression and replacement of the hormone , and the treatment of cryptorchidism. Excision, psychological construction and later external genital shaping, etc.
Currently, Duoduo has undergone bilateral cryptorchidectomy surgery and is recovering well after the operation. With regular follow-up visits in the future, her various indicators can be adjusted to within the normal range.
Abnormal sexual development in children is found
Timely diagnosis and treatment is required
17α-hydroxylase deficiency is a rare autosomal recessive genetic disease. Most of the time, each parent has a chromosome containing a pathogenic mutation and does not develop the disease itself. , when both parents pass this chromosome to their offspring, the offspring will be sick. This is also the reason why Duoduo's parents are not sick, but she is sick.
Doctors remind
Children or adolescents with difficult-to-identify gender of external genitalia or other abnormalities of sexual development need to be promptly identified and properly diagnosed and treated.
end
Source | News Square Comprehensive Shenzhen Nanshan District People's Hospital
-
-
-
-
-
-
-
-
-
-