For a long time, the little Li child has been the pride of his parents, the little one at birth on the head of the tiger is very cute, grow faster than other children, always taller, strength is also particularly strong, at the age of two years old can carry a bucket of water. But recently they are not happy, the little guy is almost 7 years old, the height of two years ago to 120 cm, but recently seems to have not grown much, see from the class sitting in the last row of the position gradually moved to the middle, and found that his “penis” has become thick as adults, there are black hair around the growth out. When he went to the hospital for a checkup, the doctor said he had precocious puberty and congenital adrenal hyperplasia. It is also said that both parents inherited it together to him, which makes the couple more depressed. The little Xue girl is 20 years old, very good-looking, tall, 174 cm, slender limbs, see her people think she can be a very good model, and recently more and more young men to pursue her. However, the girl has her own private suffering, in fact, 5 years ago, she often feel dizzy, limb weakness, powerful when walking can not walk, several times walking suddenly can not walk to squat on the ground. When she went to the hospital for a physical examination, the doctor said she had high blood pressure, and her blood electrolytes were also disturbed, with low potassium ions, so she had to take antihypertensive medication and eat more fruit. What is even more embarrassing is that she has not had her period yet and her breasts are flat. Looking around at the increasingly plump bodies of her good friends, she cannot help but feel ashamed of herself and feel sad. When she went to the hospital for a checkup, the doctor told her that she had congenital adrenal hyperplasia, and what made her faint was that the chromosome test showed 46XY, and the doctor also felt a mass at the root of her left and right thighs. She never thought how she would become a “male” overnight. Xiao Li and Xiao Xue had a gonadal disease called “congenital adrenocortical hyperplasia”. In fact, the gonadal clinic of the Department of Endocrinology of Ruijin Hospital often encounters young boys and girls who come to the clinic with this and that condition. These “differences” become more and more obvious as they get older, and they are troubled by the question, “Why am I different from others? is a question they often ask. In the human body, the control of puberty is regulated by the “hypothalamus-pituitary-gonadal” axis. The pituitary gland is equivalent to the general manager, accepting the deployment of the chairman of the hypothalamus, and then making plans to assign tasks to the next level, which is the gonads, the testes for men and the ovaries for women; the gonads are responsible for secreting sex hormones; the sex hormones then act on various parts of the body to make them behave as male or female characteristics, such as beard and muscle mass for men, breast enlargement and skin refinement for women, etc. The sex hormones then act on various parts of the body to make them appear as male or female characteristics, such as beard and muscle enlargement in men, breast enlargement and delicate skin in women, etc. The secretion of sex hormones also feeds back to the chairman of the hypothalamus and the general manager of the pituitary gland, who decide the amount of sex hormones to be secreted next according to the production. All the “orders” are sent and conveyed in the form of hormone secretion, which is regulated by the amount of secretion. Any abnormalities in the function of this axis caused by congenital diseases, genetic mutations, hereditary factors, trauma, surgery, infections, tumors, malnutrition or excess, lifestyle and occupation can cause gonadal diseases, including precocious puberty, sexual infantilism and abnormal sexual differentiation. For most people, gender is an indisputable fact, and “male or female” is a deep-rooted concept in the whole society. Whether as a teenager, an adult, or in old age, gender is a distinctive mark that remains with the child until death. However, in the real world, there is a group of people who are “different” and whose physique, body shape, or external genitalia are a bit different from those of normal men or women. For these people, it is important not to simply distinguish between male and female, but to be alert to the possibility of gonad-related diseases. In medicine, gender can be divided into physical gender and psychological gender. The psychological gender is formed later in life, around the age of three in early childhood, as a result of a person’s perception of self. Abnormalities of psychological gender may or may not be accompanied by abnormalities of physiological gender and are mainly due to psychoneurological disorders caused by the inversion of self-perception. Physiological gender is congenital and can be divided into three types: chromosomal gender, gonadal gender, and phenotypic gender. Under normal circumstances, the three are consistent, and the commonly referred to sex is the phenotypic sex, that is, the sex of the external genitalia. Physiological sex is accomplished through sexual differentiation. Sexual differentiation is when an individual develops into a male or female, with either male or female sex. There are four stages of sexual differentiation: differentiation of chromosomal sex, differentiation of gonadal sex, differentiation of phenotypic sex, and pubertal development. The first three stages are continuous and irreversible processes, which are completed at the early stage of embryonic development starting from the fertilized egg and are the most important periods of sexual differentiation. The first three stages are continuous and irreversible processes. If abnormalities occur during the process of sexual differentiation, resulting in discrepancies between chromosomal sex, gonadal sex and phenotypic sex, or if puberty occurs too early or too late, or even if it does not occur, gonadal diseases can occur. Some gonadal diseases can be detected at an early stage, such as the more obvious external genital malformations: clitoral hypertrophy, cryptorchidism, penile shortening, etc., which can be brought to the attention of parents at the birth of the affected child and be promptly diagnosed and treated. However, due to the special nature of gonadal diseases, many patients are no different from normal people in the early stage, and only slowly show some distinctive symptoms as they grow and develop. For example, patients with hypospadias of the penis due to androgen deficiency caused by various reasons during the 8 to 14 weeks of external genitalia formation period of embryonic development will have symptoms of urinary bifurcation and must not urinate in a squatting position like women; diseases caused by abnormal chromosome division Diseases caused by chromosomal abnormalities: Turner syndrome (chromosome 45XO) may be characterized by short stature, through-handedness, mental retardation, low hairline, webbed neck, amenorrhea, etc.; Kollanfeldt syndrome (chromosome 47XXY) may be characterized by mental retardation, growth retardation, male breast development, etc.; hypothalamic-pituitary gonadotropin deficiency may be characterized by high and thin stature like eunuchs, thin voice, pubic hair and axillary hair. Girls with congenital adrenocortical hyperplasia-21α hydroxylase deficiency may show rapid growth at the age of 3 to 4 years, significantly higher than their peers, and have great strength and muscularity, like “Little Hercules”. “Patients with 5-alpha reductase deficiency have a female appearance before puberty due to the lack of dihydrotestosterone, but after puberty, they will become boys due to the secretion of large amounts of testosterone; patients with XX male syndrome have a completely normal male appearance, but the abnormality is not found until the chromosomal examination in adulthood due to sterility and azoospermia; there are also some gonadal disorders such as congenital adrenalism. Some gonadal diseases such as congenital adrenocortical hyperplasia-17α hydroxylase deficiency may be first diagnosed due to hypertension, fatigue, and hypokalemia rather than gonadal causes. On the other hand, although the gonads are a matter of “heirloom”, they are a matter of privacy, and patients have to face enormous pressure from society. The “titles” of “intersex” and “intersex” also come one after another. Some patients have the desire to seek medical treatment, but they are too apprehensive to go to the hospital, or even to the so-called “private hospital” to receive the wrong treatment, resulting in endless suffering. Even if some patients go to surgery to have plastic surgery for external genital deformities, hormone replacement therapy after plastic surgery is very important. In conclusion, the incidence of gonadal diseases in the population is not very high, but the etiology is complex, difficult to detect and ignore in the early stage, difficult to diagnose and treat, and very easy to miss and misdiagnose. The early detection and treatment of gonadal diseases has a great impact on the prognosis. Patients who are treated in time can obtain normal male or female signs and have a normal sex life, and even get married and have children. The actual fact is that you can find a lot of people who are not able to get a good deal on a lot of things. Once there is an abnormality, do not avoid the disease, and do not seek medical advice, so as not to delay the disease.