Is there any way to treat miniature people? Can they get married and have children?

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

Patients with pituitary stalk interruption syndrome have a very vivid name, called "dwarfs". Speaking of dwarfs, everyone may be familiar with them.

Pituitary stalk interruption syndrome is caused by the pituitary stalk connecting the hypothalamus and pituitary gland being pulled apart. Most of the time, it is caused by malposition of the fetus, dystocia, and mechanical traction during birth that damages the pituitary stalk.

After the pituitary stalk is pulled and torn, the signal from the hypothalamus cannot be transmitted to the pituitary gland, resulting in hypofunction of the pituitary gland, thyroid gland, adrenal gland, and gonads, and a lack of growth hormone, antidiuretic hormone, sex hormone, thyroid hormone, adrenal cortex hormone, etc., which will affect physical development. Although an adult, he is very short and has no secondary sexual characteristics, so he looks like a child.

Figure 1 Original copyright image, no permission to reprint

So, can Pituitary Stalk Interruption Syndrome be treated? Can people get married and have children like normal people?

1. How to treat pituitary stalk interruption syndrome?

After confirming the diagnosis of pituitary stalk interruption syndrome, the functions of the anterior and posterior pituitary glands should be comprehensively evaluated to find out which hormones are lacking and the degree of hormone deficiency. Then hormone replacement therapy should be started, which means supplementing what is lacking. Hormone replacement therapy mainly supplements growth hormone, thyroid hormone, adrenal glucocorticoid, gonadal hormone, and antidiuretic hormone to see if there is any deficiency and supplement according to the degree of deficiency.

The order of hormone supplementation is very important. Glucocorticoids should be supplemented first because they are very important for maintaining life and health. If glucocorticoids are not supplemented, hypotension, hypoglycemia, electrolyte imbalance, and even coma will occur. This situation is called adrenal crisis and is life-threatening. While supplementing glucocorticoids, other hormones should be supplemented, such as growth hormone, thyroid hormone, sex hormone, etc. At the same time, attention should also be paid to the mutual influence between hormones.

At present, an artificial intelligence hypothalamic hormone pump has been developed clinically. The hormones secreted by the hypothalamus are loaded into the pump, and the hormones are transported when the human body needs them. It is controlled by a computer to simulate the physiological process of the hypothalamus of a normal person. It has begun to be used clinically and has achieved very good results.

Well, some people are curious and ask if a broken pituitary stalk can be repaired through surgery?

Unfortunately, the nerves cannot be reconnected at present, and it is not possible to repair the interrupted pituitary stalk like building a bridge.

2. Do patients with pituitary stalk interruption syndrome need to use growth hormone for life?

A normal person is about 50cm tall when they are born, grows to about 75cm at one year old, and 85cm at two years old. This has a lot to do with growth hormone. After puberty, the epiphysis closes and the height can no longer grow, and the height in this lifetime is "ceilinged".

After reaching adult lifelong height, can growth hormone be completely "retired or laid off"? Clinical studies have found that growth hormone is a hormone that is needed throughout life, but the amount required at different times is different, and its role is also different. During the growing teenage years, a relatively large dose is required, mainly to promote long bone growth; after adulthood, the amount required is less, but it is of great significance to the metabolism of substances in the body.

If you stop taking growth hormone after you have finished growing, you will have trouble. We have found that patients with hypopituitarism and growth hormone deficiency who stop taking growth hormone in adulthood when they do not need to grow in height will develop fatty liver, and over time will develop cirrhosis, followed by lung failure and hepatopulmonary syndrome. These symptoms may be miraculously relieved by timely supplementation of appropriate amounts of growth hormone.

Therefore, growth hormone needs to be replaced lifelong, but the amount required in the later stages will be very small, acting as a "lubricant" and can be maintained in small doses.

3. How to treat patients with pituitary stalk interruption syndrome who want to have children?

From growth to development, and then to childbirth, this is the course of life. Therefore, in clinical practice, we first supplement life-sustaining hormones, such as glucocorticoids and thyroid hormones; after they are supplemented, on this basis, we promote body growth, that is, grow taller; when the body reaches a suitable size and normal children begin sexual development, we start to supplement sex hormones to promote the development of secondary sexual characteristics; when the body develops to the point where it is capable of getting married, we promote the development of sperm or eggs after marriage, and childbirth can be completed. If you are an adult when you come for treatment and your growth and development have lagged behind, you must first solve the problem of growth, grow taller first, and then promote childbirth after you grow to a good state.

So, how long does it take for secondary sexual characteristics to develop after supplementing sex hormones?

Under normal circumstances, for example, for girls, it may take 2-3 years from breast development to menstruation. It also takes 1-3 years for boys to grow beards, change their voices, and become fertile.

After supplementing sex hormones for one month, two months, and three months, there will be changes every month. For boys, the voice will change, and for girls, the breasts will begin to develop. However, it takes about 2-3 years to fully develop into a mature man or woman, which is the same as the development process of normal people.

2-3 years of sexual development is just the establishment of sexual characteristics. It does not mean that there is no need to supplement sex hormones after the sexual characteristics are developed. Lifelong replacement treatment is needed, otherwise it will affect health. Different methods of sex hormone supplementation can be selected according to different age stages. It mainly depends on the purpose and needs of this stage to adjust the medication plan.

4. How often should patients with pituitary stalk interruption syndrome be checked during treatment?

It is a lifelong disease. When you first start treatment, it is often a case of multiple hormone deficiencies. Sometimes you are unsure and have to give a basic dose and then slowly adjust it. At first it may take about a month, or even a week or two, before you ask the patient to come back for a follow-up check-up and adjust the medication to a more harmonious and stable state.

After the condition stabilizes, you should come back for a checkup every three months. If the condition is particularly stable, you can have a checkup every six months or so, because with changes in physiological conditions, weather, and environment, you may need to make some adjustments.

During the process of hormone supplementation, phenomena such as bowed legs, excessive height, increased urination, and weight gain may occur. What is going on?

5. Why do patients with pituitary stalk interruption syndrome develop bowed legs or excessive height during treatment?

Bowed legs may be caused by insufficient calcium. In fact, it is not due to insufficient calcium, but mainly because calcium is not absorbed and utilized by the human body. How to promote calcium absorption? Just supplement vitamin D. After supplementation, the phenomenon of bowed legs will be alleviated.

If a child grows too fast and too tall, it means that the dosage of growth hormone given is too high. If the child grows too fast and does not have enough calcium, the bones will not be strong enough and the legs will become bent.

To avoid growing too tall, you can control it artificially. Do not over-supplement growth hormone, and keep up with the supplementation of sex hormones. Because sex hormones can promote the development of secondary sexual characteristics and promote the closure of epiphysis. If sex hormones are supplemented too late, the epiphysis will not close, and you will continue to grow.

6. Why do patients with pituitary stalk interruption syndrome experience increased urination after using hormones?

After taking growth hormone, thyroid hormone and adrenal glucocorticoid, after one or two months, the patient will say that he feels much better after taking these medicines, but there is a side effect, which is that he urinates more often. He used to not get up at night, but now he gets up more often.

In fact, it is not a side effect because the truth is revealed. The patient already had potential diabetes insipidus, but it had not manifested itself. This was because the hormone secretion of the anterior pituitary was low, which masked the low antidiuretic hormone secretion of the posterior pituitary. Now that other hormones are supplemented, diabetes insipidus will manifest itself.

Many patients are also afraid that long-term use of glucocorticoids will make them fat, but the amount of hormones supplemented by the endocrine system is a physiological replacement dose, just like eating, just eat until you are full and comfortable. Don’t skip meals because you are afraid of getting fat, and don’t stop taking glucocorticoids because you are afraid of getting fat. Otherwise, it will affect your quality of life at best and endanger your life at worst.

Therefore, for patients with pituitary stalk interruption syndrome, it is necessary to supplement hormones on time and in the right amount, and have regular check-ups. Don't worry about the so-called side effects. With reasonable hormone supplementation, you can live, work, get married and have children like normal people.