1, newborn screening
Disk diffusion method using dry blood drops by ELSA, fluorescence immunoassay screening 17-OHP can be 21-OHD.
2, prenatal diagnosis
(1) 21-OHD: 9-11 weeks gestation chorionic biopsy taken DNA analysis of fetal cells, amniotic fluid testing pregnant 16-20 weeks pregnant to take calcitriol ,17-OHP, etc., because most of the risk of atypical 21-OHD child after birth, 17-OHP levels were not significantly increased, hence this type of genetic testing is the only children suffering from early diagnosis.
(2) 11β-OHD: DOC and the main measurement of amniotic fluid taken for gene analysis of chorionic diagnosis.
August 10, 2011
Prevention of congenital adrenal hyperplasia
Congenital adrenal hyperplasia and hormonal drugs
The treatment of congenital adrenal hyperplasia as early as possible after diagnosis to determine the application of hydrocortisone or prednisone are the loose, one can substitute its own lack of adrenal cortical hormone synthesis, and inhibit the pituitary release of adrenocorticotropic hormone, thus inhibiting the adrenal excessive production of male hormones and stop masculine development.
If used properly, patients can maintain normal growth and life.
The beginning of a larger dose should be 1 to 2 weeks after the displacement to be urine steroids have been controlled to a satisfactory level, can be reduced to physiological doses of: 7.5 the general adolescent oral prednisone 10 mg dose based on urinary steroid excretion in the 17 ketones amount of misalignment.
The amount of twice daily oral administration, the last one to be taken in the evening.
Should insist on lifelong medication.
In stress situations, the need to increase the amount of hormones to maintain twice, in case of severe stress conditions or the occurrence of acute adrenal hypofunction crisis, the steroid dose or even the need to increase 5 to 10 times, and the use of water-soluble hydrocortisone infusion and sodium chloride.
Reproductive function in women with menstruation are often scarce or amenorrhea, and it is often due to poor social adjustment affect reproductive function, but most of the orthopedic surgical, drug and psychological treatment to pregnancy and childbirth, 80% of the simple virilizing and 60% severe loss of salt type is fertile, and only 13% of non-classical type have fertility problems.
The males are rarely fertility problems.
Congenital adrenal hyperplasia Application of cortisone acetate dose table
| Age |
Initial dose im(mg/d),po(mg/d) |
Maintenance dose im(mg/3d),po(mg/d) |
Stress doses (mg/d) |
Fludrocortisone (mg/d) |
Before treatment 17KS/d |
After treatment 17KS/d |
| <2 | 25 , 37.5～50 | 25~37.5,12.5 | 25 | 0.1 | 2～8 | 0.5～1.5 |
| 2～6 | 50 , 75～100 | 50～75, 25 | 50 | 0.1 | 8～20 | 2～4 |
| 6～12 | 75 , 100～150 | 75, 25～37.5 | 50～100 | 0.1 | 20～40 | 4～8 |
| >12 | 100, 150～175 | 75~100 ,37.5～50 | 100～150 | 0.1 | 30～60 | 8～15 |
Treatment congenital adrenal hyperplasia in children
1. Glucocorticoid P450c21 deficiency CAH patients, once diagnosed, should immediately be given corticosteroids, such as hydrocortisone (HC) or cortisone acetate treatment.Especially newborns, should be bigger to begin treatment doses, enough to suppress ACTH secretion.Children are generally oral dose 10 ~ 20mg / (m2d), slightly larger than the physiological requirements, the total usually 2 to 3 times, as early as 1 / 2, afternoon and evening of the 1 / 4.CAH patients generally require higher doses of glucocorticoids to suppress ACTH and androgen levels, in order to achieve better therapeutic effect, the adrenal cortex remained at a low response state, the control is not satisfactory for a period of time are required to give high doses of HC [20 ~ 25mg / (m2d)] in order to achieve an appropriate degree of adrenal atrophy, later given the dose needed to maintain close to physiological.Glucocorticoid dose rate should still be based on height, bone maturation ,17-OHP, androstenedione, testosterone, cortisol and other indicators of a comprehensive analysis to adjust.
If the patient has entered to adulthood (> 16 years), the epiphysis is closed at this time, at bedtime to give a 0.25 ~ 0.5mg of dexamethasone to suppress ACTH secretion the next morning.Under stress, glucocorticoid dose should be increased to 2 to 3 times the original dose to avoid adrenal insufficiency crisis.Glucocorticoid dose rate should still be based on height, bone maturation ,17-OHP, androstenedione, testosterone, cortisol and other indicators of a comprehensive analysis to adjust.
If the patient has entered to adulthood (> 16 years), the epiphysis is closed at this time, at bedtime to give a 0.25 ~ 0.5mg of dexamethasone to suppress ACTH secretion the next morning.Under stress, glucocorticoid dose should be increased to 2 to 3 times the original dose to avoid adrenal insufficiency crisis.
In glucocorticoid treatment, while giving mineralocorticoid hormones (such as 9α-FHC), can significantly improve the state of salt loss, and help to improve clinical symptoms and signs of other, reducing the dose of glucocorticoid, Cushing’s face and to avoid growth retardation.Salt loss in newborns and infants of poor tolerance, a larger dose of 9α-FHC 0.15 ~ 0.3mg / d, and sometimes take a day adding 1 ~ 2g dietary salt;Small dose of children age 0.05 ~ 0.15mg / d.
(2) treatment of acute adrenal failure
(A) to correct dehydration: mild to moderate dehydration in the first 2h of intravenous infusion of 5% to 10% glucose saline 20 ~ 40ml/kg.
(B) to correct hyponatremia: sodium supplement amount (mmol / L) = (135 a measured value) 0.6 body weight, 8 ~ 12h to give the early half of the total, more than half the amount into the amount of maintenance supplies;
Available 9α-FHC 0.05 ~ 0.1mg / d orally;For mild hyponatremia, <2 years old can be taken orally NaCl 0.1 ~ 0.2g/kg,> 2-year-old from the food intake of salt, without additional salt.
(C) to correct severe hyperkalemia: 0.5g/kg of glucose plus insulin 0.3U/kg by intravenous infusion.
(D) added HC 100 ~ 200mg / (m2d) or a cortisone acetate 125 ~ 250mg / (m2d), orally 3 times, 1 week after the reduction, reduced to 3 to 4 weeks after the maintenance dose.
3. Newborns rehydration salt-loss program
(1) intramuscular injection of deoxycorticosterone (DOCA), 1 ~ 3mg / d, 2 ~ 3 times to give.
(2) the total daily fluid intake of 200 ~ 300ml/kg, half the amount of the infusion.
(3) the daily volume of intravenous normal saline 100 ~ 300ml.
(4) 5% sodium bicarbonate intravenous daily intake of about 30ml.
(5) into the amount of intravenous hydrocortisone daily 20 ~ 40mg.
(6) In addition to hyperkalemia by intravenous infusion of 5% sodium bicarbonate, 10% calcium gluconate, the weight plus intravenous infusion of insulin for every 1 unit with 2 ~ 4g of glucose.
(7) change clothes in stable condition after hydrocortisone, and add clothing salt, sodium bicarbonate.
4 Surgical treatment
21-OHD to different degrees, resulting in female patients with varying degrees of masculine genitalia, the light just after birth, a slight hypertrophy of the clitoris, with the normal development of the vulva is obscured, no surgery;Such as clitoral enlargement has affected the sex determination, then as soon as possible within the 2-year-old clitoris plastic surgery.Some children also have different degrees of integration of the labia, vaginal stenosis, it is often required later in puberty, when necessary, shaping the premarital vaginal dilatation.
5. Sex hormones
20, 22 carbon chain enzyme defects, 3β hydroxysteroid dehydrogenase deficiency and 17α-hydroxylase deficiency who should be added to the hormones puberty.
6. Adjuvant therapy
As the growth too fast, often accompanied by rickets, should supplement calcium and vitamin D.After taking the hormone-type blood pressure high blood pressure to normal, but potassium chloride should be added service.Infection should be added to the amount of hormones, and actively prevent the spread of infection control.
7. Antenatal treatment
21-hydroxylase deficiency, maternal in 3 to 10 weeks pregnant oral dexamethasone 0.5mg, 2 or 3 times a day, the maximum amount of 20μg (kgd), to prevent genital malformations baby until birth.Maternal medication response: weight gain, hyperglycemia, Cushing’s disease face and skin purple lines, etc., and post-restore.
8. Infection control
If the infection when used in the treatment of the same powerful broad-spectrum antibiotics.
Treatment congenital adrenal hyperplasia
Early diagnosis is absolutely necessary.Reasonable treatment of glucocorticoid, which every night 11 oral dexamethasone 0.5 ~ 1.5mg correct deficiencies, inhibition of ACTH secretion.The low salt syndrome in patients with severe fludrocortisone helps maintain blood pressure and weight, can be 0.05 ~ 0.3mg, according to the severity and age size.
Developed after surgery to the vagina and urethra can be separated from the vaginal opening in the perineum and to the normal position, such as the clitoris often erection, removal of the clitoris could be considered.Careful to give birth after estrogen or drug regulation can pseudohermaphroditism female patients to maintain the appearance and improve their mental state.
(A) treatment
1. Glucocorticoid replacement therapy
(1) General: All classic 21 – hydroxylase deficiency patients and symptomatic patients with non-classical glucocorticoid treatment, the hypothalamus and pituitary CRH and ACTH secretion is suppressed too much blood in abnormal levels of elevated adrenal sex hormones can be reduced.In children, the recommended use of hydrocortisone (ie, cortisol itself), dose of 10 ~ 20mg / (m2d), 2 / d or 3 / d to take.These doses exceed physiological levels of cortisol secretion in cortisol secretion in children and adolescents about the physiological level 6 ~ 7mg / (m2d).Although mildly elevated cortisol secretion in newborn is normal [7 ~ 9mg / (m2d)], CAH infants usually give the minimum dose 6mg / (m2d), 3 / d.Of 21 – hydroxylase deficiency that children must give super-physiological doses of corticosteroids, so that it is sufficient to suppress adrenal androgen, reduce the incidence of adrenal hypofunction possibilities.
Short half-life of hydrocortisone, can reduce the growth inhibition and other types of hormonal side effects, long duration of action of these hormones and drugs and strong, such as prednisone, dexamethasone.On the other hand, the short duration of action of corticosteroids once a day application can not effectively control the secretion of adrenal cortex hormones.
Cortisone acetate is not a 21 – hydroxylase deficiency drug of choice.Cortisone acetate, hydrocortisone bioavailability is 80%, but the effectiveness of hydrocortisone in 2 / 3.In addition, because the cortisone can be converted to play a biologically active cortisol, 11β-hydroxysteroid dehydrogenase reductase activity decreased further reduce the efficacy.
Older adolescents and adults with a minimum dose of prednisone (eg, 5 ~ 7.5mg / d, 2 doses) or dexamethasone (a total of 0.25 ~ 0.5mg, 1 / d, or 2 / d doses) .Must be carefully monitored for signs of iatrogenic Cushing syndrome, such as rapid weight gain, high blood pressure, skin, purple lines and bone loss.Testicular adrenal rest of the male CAH patients need higher doses of dexamethasone inhibition of ACTH.
By monitoring 17-OHP and androstenedione levels to determine the treatment effect (ie, inhibition of adrenal hormones).
Before puberty in the female and male patients, testosterone can also serve as a useful indicator.Because there are side effects of excessive treatment, should not be completely suppressed endogenous adrenal steroid hormone secretion.17-0HP the control of the best in the 1 ~ 10ng/ml, testosterone levels with the same age and same sex rather.Hormone measurement time and the time to be fixed medication, preferably in the physiological peak ACTH appeared at 8 am, or before taking the next level of cortisol in the blood at the bottom.
Children must be checked each year relative to X-ray bone age, careful monitoring of the growth of a straight line.Although the indicators to be monitored carefully, and good patient compliance, most retrospective studies have shown that the final adult height below the height of the expected height based on the parents, but also lower than normal average height.
In addition, for the loss of salt type CAH patients must also accept the mineralocorticoid hormone replacement therapy, some patients in the diet can increase the salt intake (1 ~ 3g / d).Most patients 0.1mg / d fluorine corticosterone.Infants and toddlers children sometimes need 0.1 ~ 0.2mg / times, 2 / d.Rely mainly on the determination of blood renin activity to regulate the dosage and salt intake.
(2) the treatment of patients with non-classical indications: non-classic 21 – hydroxylase deficiency patients with androgen excess if the signs and symptoms they should accept the glucocorticoid treatment.
Of precocious puberty in children give small doses of corticosteroids.
Young female patients with non-classical case of hirsutism, oligomenorrhea or amenorrhea, acne, should also be treated with glucocorticoids.
Infertility should also receive glucocorticoid replacement therapy, because the pregnancy hormone disorder is a major obstacle to treatment is easy to conceive.Glucocorticoids inhibit the secretion of adrenal androgen excess after the clinical symptoms of androgen excess can be gradually improved.Glucocorticoid therapy alone is difficult to alleviate hirsutism, as it has been difficult to eliminate the formation of hair follicles.As an adjunct, can be recommended to these patients beauty treatment of hirsutism.Male non-classic 21 – hydroxylase deficiency patients receiving glucocorticoid treatment, spermatogenesis and fertility has improved.Glucocorticoid therapy alone is difficult to alleviate hirsutism, as it has been difficult to eliminate the formation of hair follicles.As an adjunct, can be recommended to these patients beauty treatment of hirsutism.Male non-classic 21 – hydroxylase deficiency patients receiving glucocorticoid treatment, spermatogenesis and fertility has improved.Have increased non-classical testosterone male patients should also receive corticosteroids.
The symptoms have eased the nonclassical 21 – hydroxylase deficiency patients, or have had a reproductive age female non-classical patients can consider terminating the glucocorticoid treatment.
(3) Stress dose: When the adrenal crisis, adrenal crisis treatment with 0.9% saline to maintain blood volume (at least 20ml/kg intravenous injection).
After acute expansion with 0.9% saline and intravenous dextran to maintain a small amount of speed at twice the rate of maintenance dose.No clear diagnosis, before treatment in glucocorticoid blood specimens specimens androgen ,17-OHP, ACTH and cortisol.Hydrocortisone treatment of first choice, intravenous, hydrocortisone has mineralocorticoid activity.The initial dose of neonatal 25mg, children, 50mg, adolescence 75 ~ 100mg.After the initial loading dose, must be stopped to give 50 ~ 100mg / (m2d), divided into six times.
Stress doses of hydrocortisone in the case of 40 ~ 100mg / (m2d).
Can be given orally every 8 hours, or intravenous every 6 hours.
Decide according to stress dose, route of administration and delivery times.Febrile illness to any dose should be increased (up to 24h after the fever).Maintenance dose of the dose is usually 3 to 5 times.In more severe stress or oral efficacy will be affected should be parenteral glucocorticoids.In these cases, higher doses of 75mg / (m2d).In the pre-operative dose of hydrocortisone should be increased.Give the usual preoperative dose at 3 to 5 times the induction of anesthesia before surgery in order to give intravenous hydrocortisone load.Given dose and the induction of adrenal crisis when the initial dose used is similar to: Neonatal 25mg, children 75mg, adolescents and adults 75 ~ 100mg.Stress protection to last 24 ~ 72h, according to the type of surgery and recovery conditions.Gradually tapered to maintenance dose.
Nonclassical 21 – hydroxylase deficiency does not require surgery, give patients doses of hydrocortisone stress, unless previously accepted for long-term glucocorticoid treatment resulted in iatrogenic adrenal insufficiency.
2. Treatment and treatment of problems in the past 50 years with the introduction of glucocorticoid and mineralocorticoid replacement therapy and the control of LHRH agonist LHRH-dependent precocious puberty, CAH patient’s quality of life can be improved significantly.Despite much progress, at present, treatment can not make many CAH children have normal growth and development, adult treatment of CAH may be iatrogenic Cushing’s syndrome, can not fully control hyperandrogenism and infertility.Even if patient compliance is very good, these problems are not resolved.
In the 21 – hydroxylase deficiency treatment, the application of physiological doses of hydrocortisone can CAH patients with normal levels of plasma ACTH.Exogenous hydrocortisone (2 / d or 3 / d) can not accurately simulate the secretion of ACTH and cortisol pulse between pulses the timeliness of close relationships.CAH patients also often central glucocorticoid feedback inhibition of the sensitivity decreased.Glucocorticoid sensitivity decreased further glucocorticoid treatment decreased the central role, while peripheral glucocorticoid sensitivity can be maintained, so there side effects such as growth inhibition.
Even if the CAH patients can resume normal ACTH secretion, androgen synthesis, but not back to normal, because the synthesis of adrenal hormones in 21 – hydroxylase after blocking access points into the androgen steroid intermediates should be more than normal.CAH in order to prevent endogenous adrenal androgen hypersecretion, cholesterol side chain cleavage rate must be reduced to normal levels the following, in order to avoid the 17 – hydroxyprogesterone excessive accumulation, and the diversion into the androgen pathway.For the role of negative feedback inhibition by cholesterol side chain cleavage rate to normal levels the following, must apply more than physiological doses of glucocorticoids.Traditional treatment is difficult in the high cortisol between hyperinsulinemia and hyperandrogenism balance.Patients receiving treatment are often the performance of glucocorticoid excess, such as obesity, decreased growth rate or other clinical features of Cushing’s syndrome.Hyperandrogenism signs and symptoms include: women masculine, male and female and male precocious adult final height will appear shorter.Another complication in children central precocious puberty, CAH diagnosis was delayed, and adrenal androgen secretion in patients more vulnerable to poor treatment of precocious puberty, adrenal androgen secretion which makes the problem much more complex.
CAH patients with adult height is often lower than normal, probably because high cortisol hyperlipidemia (iatrogenic), or hyperandrogenism hyperlipidemia through high estrogen indirect impact on the growth axis, or the combined effect of these two reasons.Retrospective studies have shown that final height of patients treated is relatively independent of the adrenal androgen levels in the degree of control.In theory, with the closest physiological doses of hydrocortisone treatment of adrenal androgen levels in patients with skeletal maturation and the worst speed control, therefore, closed early because bone final height will fall.However, other glucocorticoid excess also inhibit growth.Constantly adjust the dose, depending on the individual to find the best balance is the art of medicine.A prospective randomized controlled crossover trial showed that: hydrocortisone 15mg / (m2d) treated patients than 25mg / (m2d) treated patients the possibility of inhibition of small bones.
Once the growth and development of complete female CAH patients continue to face hirsutism, amenorrhea, and infertility problems.Classic CAH girls, age of menarche delays common, such as ovarian dysfunction in PCOS.Androgen may directly impede or affect the follicle stimulating the hypothalamus – pituitary – gonadal axis;However, the CAH girls, irregular menstruation, ovulation and infertility is not always the treatment of hyperandrogenism is not caused.Female CAH adrenal progesterone secretion, adrenal sources of estrogen levels increase.CAH girls may be due to ovarian dysfunction of the hypothalamus, pituitary or ovarian level exception.
Because the treatment of CAH patients more difficult, there are many of the above problems, therefore, is currently working to explore some new treatment methods.New treatment goal is to make children’s access to CAH normal growth and development, adult CAH maximize the quality of life.For example, because the estrogen, androgen is bone rather than mature and early epiphyseal closure reasons, to reduce estrogen production can prevent or improve a certain degree of short stature.Some scholars studying the use of aromatase inhibitors (blocking the androgen into estrogen) and androgen antagonists (reduce the degree of masculinity) to aid in the treatment of 21 – hydroxylase deficiency.These drugs can reduce the dosage of corticosteroids, rather than the degree makes a woman masculine, or the further development of accelerated skeletal maturation, and achieved initial results.
Adrenalectomy is another highly controversial method of treatment.Some experts suggest that masculine and serious loss of salt-type (activity for the O allele genotype) female patients underwent genital reconstruction surgery (within 1 year of age) for adrenalectomy.This approach is based on the life of women in the later time must be treated to suppress by adrenal gland, adrenal gland surgery can cure.Give after adrenalectomy and hydrocortisone replacement doses of aldosterone treatment than with the inhibition of adrenal glucocorticoid simpler.In addition, some types of CAH in the elevated number of precursor substances can cause sodium retention, making treatment more difficult, especially when the adrenal crisis.Objection is that recent studies have shown that cancer patients, some of the adrenal androgens are beneficial to women.Therefore, since adrenalectomy and adrenal androgen deprived of all women are not entirely favorable, should continue to explore other treatment methods.
CAH is the latest gene therapy treatments.Number of research experiments in animal models is currently the treatment.
3 genitalia reconstructive surgery before the treatment of all genital malformations purpose is to enable patients with normal sexual function and fertility.Therefore, 46, XX CAH children are usually simple masculine by women dependent, 46, XY male child maintenance by.The initial surgical approach in the early stages of life to improve the appearance of external genitalia (clitoris hypertrophy is the standard), at a later date (usually in adolescence) is more suitable to genital intercourse.Some patients are satisfied with the results of surgery, these patients increased the proportion of male sexual orientation.Improved surgical techniques are recommended: 1 year of age in a one-time full reconstruction, and to avoid damage to sensitive clitoris Organization (Yindi Cheng-shaped surgery).Because patients receiving this surgery is still very young, not yet fully evaluate these new surgical treatment outcomes.
Now for the CAH patient treatment goals in reproductive capacity, while considering the best psychological treatment outcomes.Doctors should be provided to the patient’s family detailed information for each treatment, so that family members make the final decision.In addition, some scholars have suggested the decision in the neonatal period, but not gender dependent surgery until the child is big enough to determine his (her) sexual orientation.Now there is not enough evidence to determine whether this approach will result in psychological trauma, or surgery than traditional methods due to trauma.
(B) the prognosis
1. Adrenal crisis is the only threat to life, can occur in untreated loss of salt-type baby.
2. The growth of androgen treatment due to increased secretion of excessive growth, bone maturation in advance, so early epiphyseal closure, the body can lead to short, non-volatile salt sportsman sick child easy to short delay in diagnosis caused the body, excessive use of corticosteroids , often lead to short stature.
3. Affect sexual development and reproductive effects caused by sexual development and reproduction mainly caused by inappropriate treatment.The symptoms if early appropriate treatment, the prognosis is still good, can have normal growth and fertility.
Congenital adrenal hyperplasia can cause mental decline
One from Denmark Johannsen and other case-control studies have shown that people with congenital adrenal hyperplasia (CAH) of women often show cognitive impairment.
The study of 35 patients with 17 to 51-year-old female CAH patients for the study group to 35 age and education matched control group of healthy women, using a simplified Wechsler Adult Intelligence Scale evaluated.
The results showed that, CAH group’s IQ (IQ) was significantly lower than the control group, both overall IQ (84.5 pairs 99.1, P <0.001), or verbal IQ (86.6 pairs 97.3, P <0.001) or behavioral IQ (85.7 pairs of 101.3, P <0.001);
In CAH patients, the loss of salt-type subgroup of patients with overall IQ and verbal IQ was significantly lower than the simple virilizing sub-group of patients [respectively, 81.2 pairs of 92.8 (P = 0.04) and 84.7 pairs of 95.5 (P = 0.05)], conduct IQ was significantly lower than the subgroup of patients with late-onset CAH (81.5 pairs 96.2, P = 0.02).
CONCLUSIONS: In the CAH patients, especially the loss of salt-type CAH patients can be observed a significant cognitive impairment.
These phenomena may be caused by onset of hyponatremia after birth, lack of application of hormone replacement therapy or prenatal adrenal androgen hypersecretion, and CAH due to the potential impact of social and psychological factors.
Chronic adrenal insufficiency symptoms complex
Attention may be many years before.
Occasionally in some cases, due to infection, trauma, surgery and other stress induced adrenal crisis, was the clinical findings.
Second, the pigmentation
Third, the weak
Fourth, the gastrointestinal symptoms
Fifth, cardiovascular symptoms
Sixth, low blood sugar
Seven psychiatric symptoms
Eight, adrenal crisis
Nine other
Of anesthetics, sedatives are very sensitive to small doses can cause drowsiness or coma.
Hypogonadism, such as impotence wilt, menstrual disorders.
Ten, the performance of the primary disease such as tuberculosis, a variety of autoimmune diseases and a variety of glandular dysfunction syndrome symptoms.
Congenital adrenal hyperplasia-related inspection
Adrenocorticotropic hormone
Urine conventional
Blood biochemical examination six
Renin activity
Carbon dioxide
Standard bicarbonate (SB)
Serum aldosterone (ALD, ALS)
Dexamethasone suppression test
August 9, 2011
Attention,Congenital adrenal hyperplasia treatment of newborn ?
1, newborn screening
Disk diffusion method using dry blood drops by ELSA, fluorescence immunoassay screening 17-OHP can be 21-OHD.
Mainly refers to the newborn screening and diagnosis of 21-OHD.Purpose is to prevent life-threatening adrenal crisis and the resulting brain damage or death, prevention of female genitalia in children as masculine gender to determine the error cause, prevention of excessive androgen caused after the short stature, mental, physical development, etc. barriers, so that before the appearance of clinical symptoms in children with early treatment.CAH newborn screening is every baby born in the 3 to 5 days after birth, blood on the heel, drop in on special filter paper, by using a variety of detection methods, such as enzyme-linked immunosorbent assay (ELISA), fluorescence immunoassay determination of filter paper blood film such as 17-OHP concentrations for early diagnosis.Normal infants born after 17-OHP can be> 90nmol / L, 12 ~ 24h to normal after.17-OHP levels and birth weight have a certain relationship, the normal full-term children 17-OHP levels in 30nmol / L or less, low birth weight (1500 ~ 2700g) for 40nmol / L, very low birth weight (<1500g) is 50nmol / L after birth, the newborn heart and lung diseases such as consolidation of some 17-OHT also increased, for these reasons can lead to false-positive rate and the recall rate increased.General screening 17-OHP> 500nmol / L typical CAH, 150 ~ 200nmol / L can be found in all types of CAH or false positive.17-OHP screening positive cut-off point should develop according to laboratory methods, and through long-term observation, lessons to be adjusted.Positive cases require close follow-up, by measuring plasma cortisol, testosterone, DHEA, DHA, and 17-OHP levels in order to confirm the diagnosis.
2, prenatal diagnosis
(1) 21-OHD: 9-11 weeks gestation chorionic biopsy taken DNA analysis of fetal cells, amniotic fluid testing pregnant 16-20 weeks pregnant to take calcitriol ,17-OHP, etc., because most of the risk of atypical 21-OHD child after birth, 17-OHP levels were not significantly increased, hence this type of genetic testing is the only children suffering from early diagnosis.
(2) 11β-OHD: DOC and the main measurement of amniotic fluid taken for gene analysis of chorionic diagnosis.
First of CAH patients and parents should be carried out by 21-hydroxylase gene analysis.
Pregnancy when the mother again at 4 to 5 weeks pregnant, oral dexamethasone 20μg / (m2d) (generally 1 ~ 1.5mg / d), 9 to 11 weeks gestation, the chorionic (CVS) biopsy done chromosome detection, DNA analysis of the CYP21B gene, such as the above results suggest that the fetus is male, heterozygous and normal fetuses, dexamethasone treatment can be interrupted.
Prompt detection of fetal amniotic fluid of women homozygous for the possibility of children is large, then the dexamethasone treatment to birth date.