Turner syndrome is the most common of the sex chromosome abnormalities in women. Women are supposed to have two X chromosomes, but one of them is completely or partially missing in this rare disease. The most common symptom is short stature; the average adult female with Turner syndrome is 143 centimeters tall.

The condition affects about 1 in 1,500 to 2,500 girls. As the disease is usually associated with ovarian dysgenesis, patients show symptoms such as amenorrhea, delayed puberty, and infertility, in addition to short stature.

Women with Turner syndrome have a high rate of miscarriages, stillbirths, and congenital disabilities, even when they conceive naturally. Frequent otitis media, kidney malformations, and stenosis (narrowing) of the aorta are also common. The diagnosis is made by analyzing the chromosomes in the blood to identify numerical and structural abnormalities in the sex chromosomes.

Common treatments are growth hormone injection and female hormone therapy.

First, growth hormone is administered to treat short stature, but its effectiveness depends on the individual's condition and when the treatment is started. In particular, growth hormone treatment before puberty is more effective. Therefore, it is recommended to start growth hormone therapy as early as possible in the life of a patient with Turner syndrome if they have growth failure.

In chromosomally confirmed cases of Turner syndrome, growth hormone treatment from the age of 2 until growth becomes complete is covered by insurance. However, even if growth is incomplete, it is 100 percent out-of-pocket payment if their height exceeds 153 centimeters.

In patients with Turner syndrome who do not develop natural puberty, treatment with female sex hormones is used to induce secondary sexual characteristics and menarche. At the age of 12 or 13, estrogen synthetics are administered. Once breast development is achieved, progesterone is added to induce menstruation to prevent abnormal proliferation of the endometrium due to the effects of estrogen.

"Early diagnosis is crucial for preventing comorbidities associated with Turner syndrome, timely administration of growth hormone, and induction of puberty," said Professor Kang Eun-gu of the Department of Pediatrics at Korea University Ansan Hospital.

"In particular, the risk of developing thyroid disease and diabetes due to hormonal problems is also high, so continuous management and treatment through regular consultation with a specialist is essential, Professor Kang added.