hermaphroditism in children
Introduction
Introduction to pediatric hermaphroditism Sexual malformation, also known as amphipathic, includes a variety of developmental malformations of the internal and external reproductive organs and secondary sexual characteristics caused by chromosomal abnormalities, gonadal dysplasia and endocrine disorders. Hermaphroditism or ambiguousgenitalia is the result of abnormal sexual differentiation. It refers to the phenotypic sex in an indeterminate interstitial state or the contradiction between phenotypic sex and gonad sex or genetic gender. It is divided into gonad and external reproduction from pathological point of view. Abnormal differentiation. basic knowledge The proportion of sickness: 0.00001% Susceptible people: children Mode of infection: non-infectious Complications: small penis cryptorchidism
Cause
Causes of pediatric hermaphroditism
Chromosome aberration (15%):
In the process of embryonic development, if some factors cause chromosome aberrations and affect the secretion of sex hormones, both sexes can occur. (1) True hermaphroditism: gonads, genitals and sexual characteristics have the characteristics of male and female, that is, the gonad is the ovary and testis, or the egg testis, the chromosome is 46, XX accounts for about 50%, 46, XY and chimerism Types each account for 25%. (2) False hermaphroditism: the gonads and the external genitalia are opposite sex. 1 male sex and hermaphroditism: the gonads and chromosomes are male and the genitals are female. 2 female pseudohermaphroditism: the gonads and chromosomes are female, and the genitals are male.
Gonadal dysplasia (20%):
Gonadal development depends on the sex chromosome, the sex chromosome is XY, the gonad develops into the testis, the XX develops into the ovary, the fetal ovary has no hormone synthesis, and the fetal testicle secretes the Mülle suppressor (MIF) in the embryo about 60 days, inhibiting The ipsilateral Müllerian tube develops; after 70 days, it secretes testosterone, which makes the ipsilateral non-tubular development into epididymis, vas deferens and seminal vesicles. After testosterone acts as a dihydrotestosterone by 5 reductase, it promotes the original external genitalia to males. Development, if the above factors and hormones are not produced in the body, both internal and external genitalia develop into a female type.
Sexual deformity:
1. The true amphoteric malformation gland can be a single ovary or testis, or both in the same gonad (egg test), or one side of the ovary or testis, and the other side is the egg testis. According to the above principle, the chromosome should contain Y, but in fact can not be all detected, can not be explained by missing the investigation, so the reason is unknown.
2. False hermaphroditism
(1) Male and female gender deformity: belongs to testicular degeneration syndrome, which may have different clinical manifestations due to different periods of degeneration.
1XY simple gonadal dysplasia: the early testicular embryos are not developed, and no MIF and testosterone are secreted. Therefore, the external genitalia is completely female.
2 testicular feminization (also known as androgen insensitivity syndrome): due to the lack of dihydrotestosterone receptor in the original external genitalia, does not respond to androgen in the body, resulting in external genital development of women; due to testosterone secretion of MIF, Mullerian tube degradation When there is no female internal genitalia, the genital tract lacks 5 reductase, it can also cause this disease, belonging to familial autosomal recessive genetic disease.
3 Insufficient synthesis of androgen: 17 hydroxylase deficiency, testosterone, dehydroepiandrosterone and androstenedione are blocked, internal and external genitalia develop into female type, and testicular dysplasia also secretes MIF.
17,20 carbon chain enzyme deficiency and 17-hydroxysteroid dehydrogenase deficiency, both affect androgen synthesis and male pseudohermaphroditism.
(2) Female sex and hermaphroditism:
1 congenital adrenal hyperplasia (adrenal syndrome): excessive androgen causes masculinity in girls, seen in 21 and 11 hydroxylase deficiency.
2 The disease of androgen increased during pregnancy or the use of androgenic drugs, such as norethisterone.
Prevention
Prevention of sexual deformity in children
The causes of congenital diseases are very complex, including infection during pregnancy, advanced birth, close relatives, radiation, chemicals, autoimmunity, genetic material abnormalities, etc., preventive eugenics measures:
1. Prohibit close relatives from getting married.
2. Premarital examination to discover genetic diseases or other diseases that should not be married.
3. The detection of the carrier is determined by group census, family survey and pedigree analysis, laboratory examination and other means to determine whether it is a genetic disease, and determine the genetic mode.
4. Genetic counseling.
5. Prenatal diagnosis of prenatal diagnosis or intrauterine diagnosis is an important measure of preventive eugenics.
The prenatal diagnostic techniques used are:
1 amniocytes culture and related biochemical examination (amniotic puncturing time is 16 to 20 weeks of pregnancy is appropriate);
2 pregnant women blood and amniotic fluid alpha fetoprotein determination;
3 ultrasound imaging (applicable in about 4 months of pregnancy);
4X line examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities;
5 Determination of sex chromatin in villus cells (40 to 70 days of conception), predicting fetal gender to help diagnose X-linked genetic diseases;
6 application gene linkage analysis;
7 fetal mirror examination.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Childhood malformation complications Complications small penis cryptorchidism
Can be combined with hypertension, hypokalemia, sodium loss and so on. Can be complicated by dysplasia, such as small penis, hypospadias, cryptorchidism, permanent urogenital sinus (blind end vagina), no uterus, no menstruation, can affect fertility. The gonads can malignant.
1. The serum potassium concentration is lower than 3.5 mmol/L (3.5 mEq/L, and the normal human serum potassium concentration ranges from 3.5 to 5.5 mmol/L) is called hypokalemia. In hypokalemia, the total potassium content of the body does not necessarily decrease, as is the case when extracellular potassium is transferred to the cells. However, in most cases, patients with hypokalemia are also associated with a reduction in total potassium (potassium deficiency).
2. Small penis (micropenis) means that the appearance of the penis is normal, the ratio of length to diameter is normal, but the length of the penis is less than 2.5 standard deviations above the average length of the normal penis.
3. The urethral ectopic opening in the ventral side of the urethra, called hypospadias, the hypospadias opening can occur anywhere from the perineum to the penis head. The distal end of the external urethra, the urethra and surrounding tissues are underdeveloped, and the formation of a fiber cord involves the penis, causing the penis to bend to the ventral side. Congenital penile curvature is not all of the hypospadias, but the hypospadias have different degrees of penile curvature.
4. Cryptorchidism refers to one or both testes failing to descend from the lumbar retroperitoneum to the ipsilateral scrotum in accordance with the normal development process, also known as testicular insufficiency.
Symptom
Symptoms of juvenile malformation in children Common symptoms Sexual malformation Testicular microgonadal dysplasia Precocious nodules Male hypokalemia No menstrual cramps No armpit hypertension
True hermaphroditism
(1) At birth: The external genitalia are not easily recognized as male or female, and most have a penis.
(2) During puberty development: the characteristics of both sexes are gradually revealed, such as breast development, penis growth, and even menstruation.
(3) Genital: The external genitalia is bisexual. If there is a penis, the scrotum is divided into two sides like the labia majora. There may be testicles or egg testes in the scrotum. There is a vagina. The genitalia on the side of the testicle is the epididymis, spermatic cord, and ovary. On one side there are the cervix, the uterus and the fallopian tubes, and the uterus may be poorly developed.
2. pseudo precocious puberty
(1) XY simple gonadal dysplasia:
1 Pre-puberty: a phenotype for a completely normal girl.
2 puberty: body length, female sexuality is not developed, no menstrual cramps.
3 Others: The internal and external genitalia are young girls. If the gonads are malignant, the pelvic cavity has masses and even ascites.
(2) Testicular feminization:
1 pre-puberty: normal female, or basically female with a large clitoris.
2 After puberty: female sexual characteristics appear, but no mane (or less) and pubic hair (or a small amount), no menstrual cramps.
3 testicles: in the groin or labia majora or accessible nodules, as small as soy beans, as large as normal testes.
4 no uterus and fallopian tubes: short vagina, no uterus and fallopian tubes.
(3) Insufficient synthesis of androgen:
117 hydroxylase deficiency: normal female phenotype at birth, no female sexual characteristics after puberty, no uterus, no menstruation, may have hypertension, hypokalemia, such as partial deficiency of 17 hydroxylase, clinical symptoms Not typical.
217,20 carbon chain enzyme deficiency: only affects androgen synthesis, vulva conditions with the degree of lack of complete female until dysplastic men, no uterus, no menstruation, breast dysplasia.
Deficiency of 317-hydroxysteroid dehydrogenase: testosterone and estradiol synthesis are blocked, so the vulva is a female or stunted male, breast development after puberty, enlarged clitoris, male hair distribution, no uterus, no menstruation.
(4) Female sex and hermaphroditism: the female genitalia at birth, or different degrees of masculinization, the height of children is greater than that of children of the same age, the bone age is greater than the age, and symptoms of heterosexual precocity can occur, and menstrual thinning after puberty, Or accompanied by sodium loss and hypertension, the internal genitalia is female.
Examine
Examination of pediatric hermaphroditism
1. Chromosome karyotype examination of peripheral blood and / or gonads, skin karyotype check:
(1) True amphoteric malformation: karyotype is 46, XX; 46, XY or 46, XX/46, XY and other chimeric types.
(2) Male and female amphoteric deformity: the chromosome is 46, XY.
(3) Female sex and hermaphroditism: chromosome 46, XX.
2. Endocrine examination
(1) blood estradiol, testosterone: puberty development significance, XY simple gonadal dysplasia, E2 and testosterone are low, testicular feminization, both are elevated, but E2 is lower than normal women, androgen Insufficient synthesis, both are low, and true and false hermaphroditism, both are high, up to the normal range, 21 and 11 hydroxylase deficiency, testosterone increased, estrogen is lower than normal women.
(2) 24h urine 17-ketosteroid: increased androgen, increased displacement.
(3) Blood cortisol: may be reduced in the absence of 21-hydroxylase.
Do B-ultrasound to understand the uterus, attachments, vagina, prostate, testicles, etc.
Diagnosis
Diagnosis and diagnosis of pediatric hermaphroditism
diagnosis
According to the symptoms and laboratory tests can be diagnosed, after birth, if there is doubt about the sex of children, sexual chromatin, sex chromosomes and urine 17-ketone, urine 17-hydroxysteroid test, if the test results and sexual characteristics are inconsistent Attention should be paid to it, and further examination should be carried out, if necessary, exploratory laparotomy to determine gender.
Differential diagnosis
Sexual malformations should pay attention to the identification of true hermaphroditism and pseudohermaphroditism. The pseudohermaphroditism should be identified when male pseudohermaphroditism or female pseudohermaphroditism is deformed. It can be confirmed by laboratory test results.
The hermaphroditism can be divided into true hermaphroditism and pseudohermaphroditism. The true hermaphroditism is the presence of ovarian and testicular tissues in the body. The karyotype can be normal male, female or chimeric. The reproductive duct and external genitalia are often Sexual deformity. The true amphoteric malformation gland must be intact, that is, the testicles must have a normal structure, with signs of seminiferous tubules, interstitial cells, and germ cells; the ovaries must have various follicles and have egg cell growth, as for only the ovaries or The residual tissue of the testes does not belong to the true hermaphroditism.
There are 3 types of true hermaphroditism:
1. One side is the ovary and the other side is the testicle, which is called unilateral true hermaphroditism. This type accounts for 40%.
2. Both sides are ovarian testis (that is, both ovarian tissue and testicular tissue in one gonad), and there is fibrous tissue between ovarian tissue and testicular tissue, called bilateral true hermaphroditism, which accounts for 20%. %.
3. One side is the egg test, the other side is the ovary or testis, this type is 40%.
False sex deformities can be divided into "male male and female malformations" and "female pseudo-sexual deformities".
Female pseudohermaphroditism
"Female pseudohermaphroditism" means that the gonad in the patient's body is the ovary, but the genital area resembles the male genitalia. For example, the clitoris is especially fat for the elephant boy's penis, the labia majora is connected to the left and right, and some of the ovaries are excessively lowered and fall into the labia majora and resemble the scrotum, but there are no testicles. It has a throat and a long beard. Such malformed patients, after birth, because their external genitalia are male characteristics, are easily used by parents as a boy to raise education, and people around them are mistaken for men.
Male pseudohermaphroditism
The "male pseudohermaphroditism" refers to the genital gland in the patient's body, but the external genitalia is like a female vulva. A man with such a deformity has a penis atrophy, like a female clitoris, a hypospadias, like a woman's vaginal opening, a scrotum separate, shaped like a woman's labia majora. Most of the testicles are hidden pills, hidden in the abdominal cavity, groin or the scrotum resembling the female labia majora. People with such malformations, because of the feminine characteristics of the external genitalia, are born to be easily used as parents to raise education. Some patients have testicular dysplasia. After puberty, male characteristics are still not obvious, while some patients can get an erection after adulthood, and can have sexual intercourse and ejaculation, and even have fertility.
