What are the symptoms of Kirschner's syndrome?

summary

Klinefelter's syndrome is a congenital disease caused by chromosomal abnormalities. The karyotype of normal male is 46, XY and that of female is 46, XX. If the male chromosome karyotype x increased, it will cause the disease, the most common is 47, XXY. The incidence rate of this disease is l% 2%, which is 1/1000 proportion of boys born. What are the symptoms of Kirschner's syndrome?

What are the symptoms of Kirschner's syndrome?

The development of the first sexual sign is delayed for 1-2 years, even undeveloped, the vulva is poorly developed, and the penis is shorter than normal, mostly less than 3cm; The testicle is small and hard, the volume is only 1 / 3 of the normal person or the length is less than 2cm. Small testicle is the most typical manifestation of Klinefelter's syndrome. Patients with low or loss of sexual desire, sexual dysfunction, or even no sexual intercourse ability. The majority of patients with penile erection, but also ejaculation, but the semen of azoospermia or a very small amount of sperm, also known as azoospermia, 97% of patients due to azoospermia and infertility. Severe cases were accompanied by cryptorchidism and hypospadias.

The development of secondary sexual characteristics is different, but the development of body hair is poor, pubic hair and beard are rare or absent, and axillary hair is often absent. The larynx is small or absent, with a sharp or feminine voice. The skin is white and tender, subcutaneous fat is rich, some male patients with breast hyperplasia, nearly half of the patients with breast hypertrophy, showing the characteristics of feminization. The hips are wide and female. The bones are thin, and the limbs are relatively long, so they are tall. The growth of the lower limbs is faster than that of the upper limbs and trunk. The distance from the pubic bone to the sole of the lower body is longer than that of the upper body, that is, the lower body is longer than the upper body, and the finger distance is less than the height. The abnormal bone proportion is not caused by androgen deficiency alone, because the finger distance of androgen deficiency is greater than height. Due to the increase of androgen conversion into estrogen in testis, the secretion of follicle stimulating hormone (FSH) is increased, and the ratio of estrogen and androgen in blood is out of balance, resulting in various feminized traits.

Patients are often accompanied by mild thyroid dysfunction, some may be accompanied by obesity, diabetes, etc. One quarter of the patients had mental retardation. The incidence rate of breast cancer is 20 times that of normal men. Personality and behavior are abnormal. In daily life, they are often raised by men. Adult patients are prone to thromboembolism, diabetes and cardiovascular complications due to long-term lack of androgen, muscle volume reduction, muscle tension reduction, slow or dyskinesia, bone mineral density reduction, osteoporosis. In terms of language understanding and management function, it is manifested as cognitive deficiency, speech expression difficulty, attention deficiency, poor learning ability, dyslexia or dyslexia.

matters needing attention

Testosterone propionate 50 mg, intramuscular injection, twice a week, or methyltestosterone 5 mg, three times a day, can promote the development of male secondary sexual characteristics, promote sexual desire, maintain normal sexual function. For mild cases with moderate testicular development age, hCG 2000 units can be injected intramuscularly once every 2 days to promote testicular development, but the effect is not ideal. At the present stage of treatment, all patients are given testosterone supplement therapy, in order to promote the masculinity of patients, improve their mental state, enhance sexual function, and improve the quality of life of patients.