The letters CAH stand for Congenital Adrenal Hyperplasia, which is a condition of the adrenal glands. Congenital means born with it, but where are the adrenal glands? And what is cortical hyperplasia? Above: The adrenal glands, as the name implies, are the glands above the kidneys, one on each side, triangular on the right and half-moon on the left. Then why are the hypothalamus and pituitary gland specifically marked on the diagram? Because in physiology this is a very important axis of association, the hypothalamus is on top, when it feels the adrenal glands are lazy, it sends CRH (adrenocorticotropic hormone releasing hormone); the pituitary gland is the middle cadre, after receiving the release of instructions and constantly send ACTH (adrenocorticotropic hormone); the adrenal glands are the grassroots cadres, multi-faceted, all the work has to do, when doing a good job will naturally feedback to the superiors The adrenal glands have to grow three heads and six arms because of their limited capacity and frequent urging from superiors. Above: We mainly talk about the adrenal glands, 80% of the outside is the cortex, 20% of the inside is the medulla. Each has its own secretion, but today we will only talk about the cortex, which secretes three main types of hormones: glucocorticoids, salt corticoids and sex hormones. The main representative hormones in this order are: cortisol, aldosterone and androgens. Cortisol mainly regulates blood sugar levels, increases body fat and helps the body cope with stress. Aldosterone simply helps the body to “retain sodium and water”. Under normal circumstances, the amount of sex hormones secreted from the adrenal glands is minimal. But during CAH, it is different. Let’s take a look at a diagram (below) of the production process of adrenocorticotropic hormone, the material is cholesterol, and each step requires the participation of a certain enzyme. Well, the problem is complex and beyond my intelligence. I can only briefly describe congenital adrenocortical hyperplasia using the most common 21 hydroxylase deficiency as an example. It is an inherited disease, so it is not yet possible to cure it, but only to take medication for life to maintain a relatively normal hormonal state in the body. Look at the way it is inherited: Above (source: The lancet): A: Children of a CAH patient and a normal person, 100% are carriers (no disease). B: Children of a CAH patient and a carrier, 50% of CAH patients, 50% of carriers. Above: Children of two carriers, 25% normal, 50% carriers, 25% CAH patients. So families with CAH patients need to pay more attention. Odds are just odds. I once met a mother whose all three children (one daughter and two sons) were unfortunately all CAH patients. Above: Due to the 21 hydroxylase deficiency, some of the passages in the process are hung with signs that this road is not accessible, but of course the vast majority are not absolutely not accessible, but the highway is stuck as a country road. Cortisol deficiency, the body stress capacity is low. Insufficient aldosterone, the body can’t retain water and salt (salt loss). In children with CAH, let’s not focus on the abnormal external genitalia, but make sure to pay attention to the stress capacity and salt loss of these children after birth. These problems can even endanger the child’s life. Problems with salt loss occur mainly from 1-6 weeks after birth and are rare after 6 weeks. It seems that the body still automatically establishes other pathways to compensate for the aldosterone deficiency. It is also important to pay special attention to children with CAH at the time of surgical trauma and to actively promote the patient’s stress capacity. The problem is also that the lack of cortisol production always makes the leaders (hypothalamus and pituitary) think that the adrenals are slacking off, so they give more instructions (ACTH elevation) to make the adrenals work, and the adrenals then have to grow (proliferate) to try to make a little more cortisol out of them. Look at the chart above again: the smoothest path is to produce dihydrotestosterone. The result of the adrenal glands working hard is to compensate for some cortisol and aldosterone, and dihydrotestosterone increases the most. As I mentioned earlier in the Talking About Sexual Development section, dihydrotestosterone is an important hormone that guides the development of fetal external genital structures toward the male route. there is an excess of dihydrotestosterone at CAH, which can contribute to vulvar masculinization, girls looking like boys, and boys being more masculine, but none of this is good. Parents should not be too happy about a boy who is masculine at an age when he should not be masculine, but must take him to a pediatric endocrinologist for a hormone check. I have seen some parents who are secretly happy to see their children’s penis enlargement, but only realize that there is a problem when they see that their children are growing hair when they are a few years old. The main treatment is to supplement cortisol (please consult a pediatric endocrinologist for various clever drug arrangements) to help the adrenal glands maintain a good level of hormones, on the one hand to meet the body’s need for cortisol, and on the other hand to make the higher-ups (hypothalamus and pituitary gland) feel that the adrenal glands are working well, so they will not release more ACTH to force the adrenal glands, and the adrenal glands can easily be lazy, so there is no need to continue The adrenal glands will relax and will not need to continue to wield their three heads and six arms, and the amount of androgens produced will be effectively reduced. This treatment is lifelong and stopping the medication will only bring back the symptoms. Treatment of CAH in boys is usually done in pediatric endocrinology (lifelong treatment) and generally does not require pediatric surgical involvement. For girls, in addition to pediatric endocrinology (lifelong treatment) treatment, pediatric surgery involvement is required. That is why the following is the focus of my talk today. Surgical treatment of CAH The diagnostic process of CAH is still complicated. As a simple-minded surgeon, I have a very simple and effective way to deal with these complex problems. That is: leave the complex diagnostic and hormonal treatment problems to the pediatric endocrinologists. As a surgeon, you only figure out how to do a good job of vulvoplasty. Let’s look at two pictures to visualize it (see the next two pictures): Two more pictures to feel the more serious step of masculinization: (see the next picture) Well, one more with more serious masculinization: (the next picture) CAH causes androgen excess, starting from the fetal period, with the greatest effect on the external genitalia: mainly the clitoris is enlarged, sometimes accompanied by a closed urethra (for example, like a penis), the labia can fuse and become scrotal-like, and the vaginal opening can be partially or completely closed. The appearance at birth can vary greatly. Some males who appear to be cryptorchid, however, have XX chromosomes, the gonads are ovaries, and the uterus and fallopian tubes are usually intact. Because these CAH girls do not have testes, there is no müllerian duct inhibiting substance, so it does not affect their internal female duct formation (fallopian tubes, uterus, and also the upper part of the vagina. But the lower part of the vagina is formed by the urogenital sinuses, so there is still a high probability that the lower part of the vagina can be problematic. Perhaps with a pediatric endocrinologist, the severity of CAH lies in the ease of hormonal control. But in my case, as a pediatric surgeon, the severity of CAH depends only on whether the vagina and urethra are separated and how high or low they are located. （In many girls with CAH, the vagina and urethra converge to form a urogenital sinus malformation. The one on the left side of the picture above: the convergence is high and more severe, while the one on the right side has a low convergence and is sub-severe. The least severe one is the one in which the opening of the vagina and urethra are easily seen to exist separately in the perineum. Here again, CAH is treated with lifelong medication and is treated mainly in the pediatric internal division. All of the children with CAH that I have seen have been referred by the pediatric endocrinology department, and I rely on the pediatric endocrinology department for some hormone medication guidance before and after surgery. All the surgeons can do is to make the vulva more female-like. The surgical repair has to be made according to each patient’s own anatomy, so that the surgical plan is individualized. The timing of the surgery is chosen. There has been controversy in the past, but currently, there is general agreement to perform surgery at a young age rather than delaying it until puberty. Reconstruction is usually started between the ages of 6 months and 3 years. One-stage reconstructive surgery is recommended at an early age because when girls have a normal-looking vulva, they are able to undergo more natural psychological and sexual development. The surgical treatment for girls with CAH is a three-step process of clitoroplasty, labial reconstruction and vaginoplasty. At one time, clitoridectomy was a recommended procedure, but it is no longer favored. The reason for the initial recommendation was that an enlarged clitoris can cause painful erections and prevent sex from being done when a woman is sexually aroused. However, clitoridectomy interferes with a woman’s sexual perception, appearance and development and should be discarded. Some advocate reducing the clitoral head, while others advocate leaving it intact, but both make sure to preserve the neurovascular bundle of the clitoris and remove some of the cavernous tissue of the clitoral body. This leaves the patient with unimpaired clitoral sensation, painless sexual arousal, a vigorous and sensitized clitoris, and proper erectile function during sexual arousal. In addition to cosmetic considerations, functional considerations must also be taken into account. The skin of the clitoris must be preserved as much as possible for reconstruction of the labia minora. In patients with a low vaginal opening, the use of a flap vaginoplasty technique can be an effective solution to the problem of vaginal opening exposure. If the vaginal opening is between high and low, the entire urogenital sinus needs to be freed. In the case of a high vagina, the procedure will be very complicated and difficult. After vaginoplasty, postoperative vaginal dilatation should not be performed on children before their first menstrual period. If the vaginal opening is narrow, treatment should be postponed until puberty and later ages when the vagina needs to be used. In most cases, it is up to the doctor to guide the patient to dilate on her own to resolve the stenosis. In rare cases, surgery is needed to loosen scar tissue or reconstruct the vagina.