Do dwarfs have normal intelligence? Will their fertility and life span be affected?

Author: Wu Xueyan, Chief Physician, Peking Union Medical College Hospital

Deputy Director of the Gonadal Group of the Endocrinology Branch of the Chinese Medical Association

Reviewer: Wang Jiawei, Chief Physician, Beijing Tongren Hospital, Capital Medical University

In our daily life, we see many dwarfs. Dwarf is a figurative name. In fact, they are suffering from a disease called pituitary stalk interruption syndrome.

Many people are curious about whether they have normal intellectual development besides being short? Can they get married and have children? Can they still be treated after they become adults? Will their life span be affected? Let's talk about this topic.

1. Do patients with pituitary stalk interruption syndrome have normal intellectual development?

Pituitary stalk interruption syndrome is caused by the pituitary stalk being forcibly pulled apart, making the hypothalamus and pituitary gland unable to connect, resulting in hypofunction of the thyroid, adrenal glands, and gonads, and a lack of growth hormone, antidiuretic hormone, sex hormones, thyroid hormones, adrenal cortex hormones, etc. required by the human body, which will affect growth and sexual development.

However, the intelligence of most patients with pituitary stalk interruption syndrome is normal. They are very smart and quirky, and there is no problem with their intellectual development. However, due to their delayed physical development, as they grow older, they gradually distance themselves from normal people, and they will have low self-esteem, which may affect their studies and interpersonal relationships due to psychological effects. In addition, their bodies are often fragile and they are prone to colds, which will also affect their studies.

Figure 1 Original copyright image, no permission to reprint

Many people are curious. Pituitary stalk interruption syndrome can also affect the thyroid gland and cause hypothyroidism, so why is intelligence not affected?

The pathogenesis of pituitary stalk interruption syndrome and dwarfism, also known as congenital hypothyroidism, is different. Congenital hypothyroidism is often immune and will produce a kind of mucin that adsorbs to nerve fibers and affects intellectual development, but pituitary stalk interruption syndrome does not produce this substance, so there is no problem with their intelligence.

2. Can patients with pituitary stalk interruption syndrome have children?

Many people believe that patients with pituitary stalk interruption syndrome, who are very small and have undeveloped secondary sexual characteristics, have no spring in life.

In fact, this is not the case. These deficiencies can be completely changed through treatment, which is endocrine replacement therapy, or supplementary therapy. What is lacking is supplemented. For example, supplementing growth hormone to promote growth; supplementing sex hormones to imitate normal puberty. In this way, they can experience a complete life course of growth, development and reproduction like normal people.

Generally speaking, he is first supplemented with life-sustaining hormones, such as glucocorticoids and thyroid hormones, and then supplemented with growth hormones to allow him to grow and reach a normal body size. Sex hormone supplementation begins when a normal child begins sexual development. After the secondary sexual characteristics develop and the child develops to the point where he is capable of getting married, the growth of sperm or eggs is promoted after marriage, and reproduction can be completed.

Figure 2 Original copyright image, no permission to reprint

So, are the children born to patients with pituitary stalk interruption syndrome normal? According to our observations over the past 10 years, there are 20 to 30 cases of pituitary stalk interruption syndrome patients who have given birth, and we have not found any abnormalities for the time being. Because the vast majority of patients with pituitary stalk interruption syndrome have malposition of the fetus, dystocia, and mechanical traction on the pituitary stalk at birth that causes damage. Although the disease can be considered innate, it occurs at the moment of birth and is not congenital, that is, it does not involve genetic problems, so it will not be inherited, and the children born are basically normal.

3. Will the life expectancy of patients with pituitary stalk interruption syndrome be affected?

If patients with pituitary stalk interruption syndrome are not treated, their life expectancy will be affected.

First, if adrenal cortex function is low, without treatment, normal life may be fine, or slightly problematic, but barely manageable. But a sudden blow, such as running a marathon, undergoing surgery, or catching a cold or fever, will make it impossible, just like a tired horse suddenly collapses from exhaustion, which is life-threatening. When a normal person encounters stress, they will secrete a large amount of adrenal cortex hormones, which is ten, a hundred, or even several hundred times the usual amount, to cope with it, and there will be no problem.

Therefore, physiological supplementation of hormones is needed on a regular basis. When you have a cold or fever, you can increase the dosage of glucocorticoids to simulate this physiological process and your life will not be affected. Therefore, if you take the medicine on time and receive standardized treatment, your life expectancy can be exactly the same as that of a normal person.

Figure 3 Original copyright image, no permission to reprint

4. Can patients with pituitary stalk interruption syndrome be treated if they are already in their 20s?

Patients with pituitary stalk interruption syndrome require lifelong hormone replacement therapy.

For example, a male patient may be 20 years old, but is only about 1.3 meters tall, has no male secondary sexual characteristics, still has a childish voice, and has no beard or Adam's apple. Such patients often have not yet closed their epiphyses. As long as the epiphyseal line has not closed, growth hormone can be supplemented to promote growth.

By supplementing with growth hormone, most patients will gradually grow taller, even exceeding their genetic height. In the process of achieving a satisfactory height, timely addition of gonadal hormones can restore lost youth and promote the development of secondary sexual characteristics, such as changes in voice and beard growth. When getting married and considering having children, you can switch to fertility-promoting treatment, which can fully achieve the ability to have normal fertility.

Therefore, through reasonable treatment, patients with pituitary stalk interruption syndrome can achieve a perfect turnaround from growth to development and then to fertility.

Therefore, patients with pituitary stalk interruption syndrome must build up confidence, detect and treat the disease early, take medication on time, and have regular check-ups. They can live, work, get married, and have children like normal people, and their lifespan will not be affected.