Female Pseudohermaphroditism

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What is Female Pseudohermaphroditism

Female pseudohermaphroditism karyotype was 46, XX, gonads ovarian reproductive tract for Mullerian structures, but its vulva varying degrees of virilization. Etiology and type of the disease is much less than male pseudohermaphroditism. The main cause of the fetus by excess endogenous and exogenous androgen. Another androgen contact time also have an important impact on the male piece of. After 12 weeks, vulva, clitoral enlargement, compared to the earlier contact would cause hypospadias.

Symptoms of Female Pseudohermaphroditism

Clinical manifestations:

Congenital adrenal hyperplasia:

Accounted for 90% of the 21α-hydroxylase, born often can be a certain degree of masculine, such as clitoral hypertrophy, labial fusion of different levels of the vaginal opening to the urethra. Sometimes, clitoral enlargement such as penis, plus urethral opening at the bottom, easy fault diagnosis of hypospadias and cryptorchidism. Also reported the vulva was complete male performance. Increases with age, more and more obvious virilization of female pseudohermaphroditism performance earlier onset of pubic and armpit hair, the voice was male tone, acne appears osteophiphysis earlier, the physical male performance. If the error raised male adult sexual life, but infertility; terms of female dependency, Breasts not menstruate.

Typical expression of 11β-hydroxylase deficiency is high blood pressure, no salt loss symptoms. Masculine in all patients, and their performance and 21 - hydroxylase deficiency is similar, or even worse.

3β-alcohol dehydrogenase enzyme deficiency can cause female pseudohermaphroditism, male pseudohermaphroditism, two of the same reason pseudohermaphroditism clinical manifestations, similarity to some extent. Women masculine milder performance clitoris mild hypertrophy, sometimes check no genital virilization can occur in adolescence and adulthood, hairy, irregular menstruation and polycystic ovary. It usually occurs salt loss crisis (or adrenal crisis).

Women, for women, genital virilization karyotype should be highly suspected congenital adrenal hyperplasia, accompanied by loss of salt crisis, it should be a high degree of suspicion of the disease.

Mullerian agenesis:

Female pseudohermaphroditism patients vulva is normal, female body, breasts, armpits feminine, double uterine malformations, tubal developmental somewhat less normal ovary; well as other malformations, such as 34% of patients with renal malformations, 12% associated with skeletal deformities ; There is often accompanied by Klipple-Feil syndrome.

What Causes Female Pseudohermaphroditism


Congenital adrenal hyperplasia: it is the cause of female pseudohermaphroditism most common factor, the total is an autosomal recessive familial disease, the cause of female pseudohermaphroditism is a hydrogenation can produce abnormal adrenal steroids pine lack in turn cause the secretion of adrenocorticotropic hormone (ACTH), corresponding prompted adrenal hyperplasia and intermediate metabolites excessive accumulation of disease. Disease because synthetic barriers and lack of several key enzymes, leading to symptoms, signs and abnormal laboratory tests, such as lack of mineralocorticoid or too much, the involvement of women masculine or sexually naive involvement incomplete masculine men (male pseudohermaphroditism) performance.

The aromatase lack: it is the cause of the CYP19 gene mutation. Embryonic enzyme deficiency leads to female pseudohermaphroditism. It is reported 2 cases of 46, XX babies born clitoral hypertrophy and after labial fusion. One example, estrogen is very low in the maternal blood and urine, the blood androgen levels are high. Other patients found unexplained masculine beginning until the age of 14, learned that the aromatase enzyme deficiency, she has more obvious masculine gonadotropin and androgen levels in the blood, high and low levels of estrogen.

Mother of androgen and progesterone: the following two points:

(1) the influence of drugs: the mother during pregnancy to prevent miscarriage progesterone complex, especially the first three months of pregnancy, while the androgenic effects of this drug will cause children masculine, masculine far less congenital adrenal hyperplasia. This masculine often self-limiting and gradually disappear after birth.

(2) endogenous factors: by the mother during pregnancy, the cause of female pseudohermaphroditism tumors derived from the secretion of production of androgen (such as adrenal tumors, ovarian tumors, male cell tumors, etc.), the emergence of the masculine phenomenon. The baby Changbiaoxianwei to different degrees of hypertrophy of the clitoris, labia fusion. Similarly, masculine also mentioned earlier is self-limiting.

4 Mullerian agenesis: it mainly for vaginal congenital missing, the disease can be found in the autosomal translocation of chromosomes 12q and 14q. The incidence rate of 1/5000 to 1/20000, is second only to the reasons of the gonadal dysgenesis cause primary amenorrhea, the patient's karyotype 46, XX. Many patients and found that the disease precisely because of puberty amenorrhea.

Tests and Diagnosis for Female Pseudohermaphroditism

Diagnostic tests:

1. Congenital adrenal hyperplasia

1) hormone level test: 21 - hydroxylase laboratory tests can be found in the blood of 17 - hydroxyprogesterone increased, blood cortisol levels are usually lower in salt loss crisis patients. However, in some cases, 17 - hydroxyprogesterone not like the typical disease is so high, and sometimes even normal female pseudohermaphroditism diagnosis can be used the intravenous injection 0.25mgACTH (provocation test) can be measured after 60 minutes to a more significant increase in value. Amniotic fluid of 17 - hydroxyprogesterone and androstenedione test applies to prenatal testing.

11β-hydroxylase deficiency patients, Blood 11 - deoxy corticosterone and 11 - deoxy cortisol significantly increased, another blood renin activity and aldosterone is suppressed.

3β-alcohol dehydrogenase deficient patients blood 17 - hydroxy pregnenolone ketone significantly elevated, and △ the pigsty alcohol (pregnenolone .17 - hydroxy pregnenolone ketone, the deoxy male Sterone) and A4 class steroid (progesterone, 17 - hydroxyprogesterone, androstenedione) ratio in the blood and urine with a clear diagnosis.

2) Other testing methods: As mentioned before, the use of molecular DNA technology is a sign of the development of science and technology. Cause a variety of diseases associated mutations understanding this application become possible combination hormone level test and Hl. A gene can make more rapid, accurate diagnosis. DNA analysis of chorionic villus cells, can also be used for prenatal diagnosis of congenital adrenal hyperplasia.

Mullerian agenesis:

Genital examination revealed vaginal agenesis, CT, B ultrasound, intravenous pyelography examination can be found associated with deformity.

Differential diagnosis:

Congenital adrenal hyperplasia: When the suspected patients with congenital adrenal hyperplasia due to masculine masculine adrenocortical tumors can also cause, then, must be excluded. Laboratory and auxiliary female pseudohermaphroditism check will be the main means. Use hydrocortisone can quickly reduce the blood of patients with congenital adrenal deoxy DHEA ketosteroid urinary 17 - ketosteroid and other elevated steroid levels, adrenal cortical tumor will not happen. CT, B ultrasound and magnetic resonance laboratory tests to exclude congenital adrenal hyperplasia, would be very useful to the diagnosis of the corresponding adrenal tumors.

Male pseudohermaphroditism 3β-alcohol dehydrogenase deficiency caused malformations easily and female pseudohermaphroditism mixed. The karyotype check will be very critical, and can do some angiography clear whether the Mullerian structures to identify.

Treatments of Female Pseudohermaphroditism


Congenital adrenal hyperplasia:

The treatment of the basic principle is to supplement the lack of cortisol, suppression of ACTH secretion, thereby inhibiting adrenal hypertrophy, and reduce excessive androgen secretion and accumulation reduce masculine characteristics. Salts lost crisis may be appropriate to increase the dose, plus electrolyte and saline. Surgical correction of the external genitalia, raising gender, female pseudohermaphroditism treatment.

Hormone therapy is key, because it can make a part of the male and female patients the ability to obtain fertility. Patients with glucocorticoid deficiency, with the amount of the corresponding hormone can prevent cortisol caused by the lack of after-effects, stop quickly masculine to prevent premature body growth and epiphyseal fusion, alleviate the symptoms of high blood pressure, to change menstrual loss withered female secondary sexual characteristics of normal development. Has been reported on prenatal risk factors and have confirmed that the 21 - hydroxylase deficiency in children given dexamethasone treatment, appropriate to add the appropriate hormone. To monitor the level of 17 - hydroxyprogesterone, androstenedione and other process with hormone. Glucocorticoid treatment for more than 50 years of history, but the best medication mode still not been able to determine, the treatment of female pseudohermaphroditism such as a day with several time whether morning or evening dose bigger. Now, some people try to adrenalectomy plus glucocorticoid and mineralocorticoid treatment of 21 - hydroxylase deficiency and 11β-hydroxylase patient.

Aromatase deficiency: Some scholars believe that given a small dose of estradiol for the treatment before puberty involvement of women, estrogen levels, according to the corresponding age.

3 Mullerian agenesis: the main treatment options for vaginal reconstruction and redevelopment regular vaginal dilatation.