Congenital Hypoplastic Testes

　　The formation of congenital hypogonadism may be due to the non-separation of sex chromosomes during the maturation division of the oocyte, forming an egg containing two X chromosomes. If this egg combines with a Y sperm, it forms a 47, XXY fertilized egg. If the spermatogenic cells do not separate during the first maturation division in the process of maturation, they form XY sperm, which can also form a 47, XXY fertilized egg when combined with an X egg. It is generally believed that most 47, XXY are caused by the non-separation of sex chromosomes during the maturation division of the egg..

　　So far, there are more than 30 kinds of karyotypes found in this disease. The vast majority of patients have a karyotype of 47, XXY, accounting for 80% of all cases. About 15% of patients have two or more cell line chimeras, of which the more common ones are 46, XY/47, XXY (accounting for about 7%) and 46, XY/48, XXXY chimeras, with the former's clinical manifestations being less typical than 47, XXY. Another 1% of patients have a karyotype of 46, XX/47, XXY, but the phenotype is no different from that of typical congenital hypogonadism patients. Some patients with typical clinical manifestations have a karyotype of 46, XX. The explanation for this strange phenomenon is that the patient was a chimeric 46, XX/47, XXY in the embryonic development, but the XXY cell line later disappeared, or it was extremely small and not detected.

　　Congenital hypogonadism patients have a sex chromosome of 47, XXY, which is one more X chromosome than normal males. Generally, the more X chromosomes, the more severe the intellectual disability, and it is often accompanied by some trunk deformities such as cleft palate, cryptorchidism, and torticollis. At the same time, it needs to be differentiated from trisomy 21 syndrome. The main manifestations of this disease are special facial features, such as saddle nose, narrow eye fissures, and widened interocular distance. The palm prints are often transverse palm prints, and the little finger lacks one phalanx. Due to the malformed, abnormal, or absent sperm in patients, infertility and sterility may occur concurrently.

　　Patients with congenital hypogonadism show no abnormalities in childhood, and abnormalities usually appear during puberty or adulthood. Patients have a tall stature, long limbs, fair skin, sparse pubic hair and whiskers, and often no axillary hair, presenting a castrate-like body type. About half of the patients have breast enlargement on both sides, the external genitalia often appear normal male, but the penis is shorter than normal males, and the testes are significantly reduced, usually less than 3cm, hard in texture, poor sexual function, and no sperm in the seminal fluid. Patients often seek treatment due to infertility or low sexual function, and intellectual development is normal or slightly low.

　　The chromosomal abnormalities of congenital hypogonadism are more common in pregnant women of advanced age, and can be referred to for the relevant preventive measures for hereditary diseases:

　　1. Prohibit marriage between close relatives and avoid late pregnancy.

　　2. Pre-marital examination to detect hereditary diseases or other diseases that should not be married.

　　3. The detection of carriers is determined through means such as mass surveys, family studies, pedigrees, and laboratory tests to determine whether there is a hereditary disease and to determine the mode of inheritance, etc.

　　4. Genetic counseling: Help couples at risk of having children with hereditary diseases to make scientific plans for childbearing in accordance with the provisions of family planning.

　　5. Prenatal diagnosis: It is an important measure of preventive eugenics.

　　Patients with congenital hypogonadism show no abnormalities in childhood, and abnormalities usually appear during puberty or adulthood. The clinical examination of this disease is usually as follows.

　　1. Determination of serum testosterone (T): Most cases show a decrease. According to statistics, 79% of patients with the '47,XXY' type show a decrease, 33% of patients with the '46,XY/47,XXY' type show a decrease, and almost all patients with the '48,XXXY', '49,XXXYY', and '49,XXXXY' types show a decrease. Generally, the decrease is mild, and severe decreases are rare.

　　2. Determination of serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH): The level of serum FSH is increased in all cases, without overlap with normal people. The level of serum LH is increased in 75% of patients with the '47,XXY' type, 33% of patients with the '46,XY/47,XXY' type, and the majority of patients with the '48,XXXY', '49,XXXYY', and '49,XXXXY' types.

　　3. Determination of serum estradiol (E2): Most cases show an increase, and the increase is more obvious in patients with gynecomastia.

　　4. Determination of serum androgen-binding protein (ABP): Most cases show varying degrees of increase.

　　5. Human chorionic gonadotropin (HCG) test: The serum T response to HCG stimulation is reduced or normal, most of which are reduced to varying degrees.

　　6. Gonadotropin-releasing hormone (GnRH) test: The serum LH and FSH response to GnRH stimulation is often hyperreactive.

　　7. Sex chromosome examination: Oral mucosal scraping examination, the chromatin (Barr body) is positive for those with 2 or more X chromosomes.

　　8. Semen examination: Most patients with this disease have no sperm or few sperm, but a few patients with the

　　9. Chromosome examination: Generally, peripheral blood lymphocytes are used for karyotype analysis.

　　10. Testicular biopsy: The typical histological feature is hyaline degeneration of the seminiferous tubules, absence or significant reduction of spermatogenic cells, Leydig cell hyperplasia, which can present as pseudoadenomatous or nodular hyperplasia.

　　Men with congenital incomplete testicular development should eat more sea cucumber, which is rich in nutrition, benefits the kidneys, and strengthens vitality. Regular consumption is often effective for men with few or no sperm. The method is to take 100 grams of sea cucumber to make soup, add seasonings to the soup, and eat the sea cucumber with the soup. Patients can also stew yam and lily. The method is to take 250 grams of fresh yam without skin, 25 grams of lily, and simmer in water until the lily is soft, add 10 grams of rock sugar, and eat it cold in 3 doses. This recipe is especially suitable for men with few sperm and belong to clear deficiency. Patients can also eat the adrenal glands, including the penis and testicles, of sheep, dogs, and cows, which can be braised or boiled.

　　Long-term supplementation of male hormones for patients with congenital incomplete testicular development to improve secondary sexual characteristics, but the efficacy is not ideal. Generally, testosterone propionate (testosterone propionate) or methyltestosterone (methyltestosterone) tablets are used sublingually. It is more convenient to use long-acting testosterone such as testosterone enanthate or cypionate, and it can also be considered to give chorionic gonadotropin at the same time. The drug can only help with masculinization, but it cannot change female-type breasts, so for those with breast hypertrophy, the breast glandular and fatty tissue can be removed.