Adolescence being “frozen”

At the outpatient clinic, a young man got up accompanied by his parents. When he entered the clinic, the young man was very polite, but as soon as he spoke, I noticed an abnormality: Although the registration system showed the age of 20, his voice still looked like a primary school student who had not changed his voice. The young man has a fair face, no beard is visible on his lips, and he doesn’t even have stubble.

Let’s call the young man Xiao Ming for the time being. With Xiao Ming’s self-report and the supplements from his parents on the side, his growth history was revealed: before junior high school, he was no exception compared with children of the same age, but when the boys around gradually entered puberty, the voice changed and the beard grew. With a long beard, he didn’t move at all. He said that his puberty seemed to be “frozen”. Since I haven’t changed my voice after entering junior high school, I have been kept in the choir by the teacher.

But these phenomena have not attracted enough attention from parents. They feel that their children are just more civilized. It would be nice to go out to practice after college, but Xiao Ming himself also has doubts in his heart. From unclear adolescence to college. In the northern campus bathhouse, everyone saw each other sincerely. From the strange eyes of others, Xiao Ming also noticed the huge difference between himself and his peers: underneath him is white and pure, underneath others is dark.

This time, he finally plucked up the courage to come to see a doctor. After the doctor performed physical examination for Xiao Ming, he found that his penis was small. The key is that the volume of each side of the testicles was only 2 ml (10-15 ml for adult males). When I asked him if he smelled abnormal, he said that he hadn’t smelled any obvious smell since he was a child, and he didn’t feel uncomfortable going to the toilet. Then arranged for him to take blood to check the pituitary gonadal axis hormones, follicle stimulating hormone (FSH) 0.4 million international units/ml (mIU/ml), luteinizing hormone (LH) 0.5 million international units/ml (mIU/ml) ), testosterone (T) 0.4 ng/ml (ng/ml), a typical hypogonadotropic hypogonadism. As expected, there is no sperm in the semen check routine. He was given a thin layer MR of the pituitary gland + conventional MR (MRI) of the head. The pituitary gland was not abnormal, but it suggested that the olfactory tract was hypoplastic. The karyotype of peripheral blood chromosomes is normal (46, XY).

Combining all the above clinical manifestations, laboratory examinations and imaging studies, this is a typical Kalman syndrome patient.

Xiao Ming’s mother cried at that time, saying that the child was also tall and never thought that there would be something wrong with it. While comforting her, I explained to her: In patients with Kalman syndrome, the lesion is in the hypothalamus, and the gonadotropin releasing hormone secretion disorder causes the pituitary gland to fail to secrete enough gonadotropin, which further causes the gonads to fail to develop and secrete enough sex hormones. Insufficient secretion of sex hormones will hinder the development of male secondary sexual characteristics. However, it is precisely because of insufficient secretion of sex hormones, which delays the fusion of the epiphyses, so the height is slender. This is why many parents of Kalman syndrome patients ignore the condition. After all, parents see that their children are not short and think everything is fine.

Kalman syndrome is a disease that requires life-long intervention and treatment. After comforting their family, I formulated a treatment plan for Xiaoming: before the completion of childbirth, gonadotropin injections were given to restore secondary sexual characteristics and promote sperm production. After giving birth, it can be changed to oral exogenous androgen replacement therapy.