Blind pouch vagina
Introduction
Introduction The blind pocket vagina is one of the symptoms of testicular feminization. The term testicular feminization is first advocated by Morris to express a group of hereditary sexes for males, testes, no Müllerian tubes and noisy organs. The genitourinary sinus differentiates into a completely female type, with normal breast development during puberty and vaginal hair loss or scarcity.
Cause
Cause
(1) Causes of the disease
In the 1970s, studies of patients with genital skin fibroblasts found that fibroblasts have androgen resistance that cannot bind to androgens, and later studies have shown that some patients have the ability to bind androgen to genital skin, fibroblast serum and nucleus. Normal, but androgen-receptor conjugates are unstable: the rate of dissociation increases the affinity of the receptor's up-regulation defect to bind to the ligand, reducing the short nuclear retention time of the ligand and the instability of conditions such as temperature.
(two) pathogenesis
The AR gene is located at Xq11~12, encoding 910-919, and the amino acid has 8 exons. Exon 1 is related to the transcriptional function of the gene at the N-terminus, and each of the descriptors 2 and 3 encodes a zinc finger. A highly conserved DNA binding region that binds to the heat shock protein and hormone response element (the transcriptional enhancer nucleotide series) that binds to the receptor and binds to the ligand, and activates the transcription process. Exon 4 contains 1 hinge region. The nuclear localization signal is that the receptor-ligand complex is immobilized in the nucleus, and the necessary exons 5-8 are the androgen binding region. The binding site with high affinity for androgen binds to androgen and causes receptor allosteric acid. Dimerization of nuclear localization and activation of transcription.
The general rule is that the clinical manifestation of the patient is related to the severity of the AR defect. The receptor is completely incapable of binding to androgen, and there is almost no masculine expression. The receptor has partial binding ability and may be partially masculine. The AR gene mutation occurs most frequently. Proton 5-7 arginine only accounts for 4% of all amino acid residues in the receptor, while arginine mutations account for 40% of all mutations, 774831840 and 855 4 arginine residues and 866 proline Residues are the sites with the highest probability of mutation. AR gene mutations cause receptor binding, loss or reduction of androgen capacity or receptor-ligand, complex instability, and easy dissociation under the influence of temperature or other environmental factors. The final result is that androgen does not play a normal physiological role in the target tissue.
Examine
an examination
Related inspection
Male examination of male genital development
Post-pubertal patients have a female phenotype, good breast development, lack or sparse pubic hair and pubic hair, testicular mass in the inguinal canal, primary amenorrhea, blind vaginal and no uterus and other typical clinical manifestations and karyotype 46, XY can determine the diagnosis of testicular feminization. Similarly, prepubertal girls or female infants, chromosome karyotype 46, XY, may touch the testicular mass or the inguinal hernia in the labia majora.
Plasma LH and testosterone levels are elevated, but can be normal during infancy. Pre-pubertal patients sometimes require an HCG stimulation test to reveal elevated testosterone levels.
Laboratory examination: characteristic changes in plasma hormone profiles: increased levels of LH and testosterone. The FSH level is normal or slightly elevated. DHT levels are generally lower than normal. Pre-pubertal patients may choose to have an HCG stimulation test.
Other auxiliary examinations: Regular B-ultrasound, monitoring testicular and breast development. Chromosome gene check.
Diagnosis
Differential diagnosis
No whisker hair and pubic hair: Infertility or sexual dysfunction is the main reason for patients to see a doctor, the two sides of the testicles are small, breast hypertrophy on both sides is a typical condition. X small body positive, karyotype is 47, XXY can definitely diagnose.
Hair is scarce: hair is scarce, that is, hair, eyelashes, eyebrows, pubic hair and mane are rare, fragile and dull, and easy to fall off. Can be divided into systemic or local causes, if it is a systemic disease, it is generally reduced hair, mostly caused by endocrine dysfunction, such as anterior pituitary hypofunction, hypothyroidism, parathyroid function Caused by hypotension and sexual dysfunction. The recovery period of some severe infectious diseases and some chronic diseases (such as nephritis, cirrhosis and malnutrition) can also cause hair thinness; those who are undergoing chemical drugs and radiation therapy can cause temporary hair loss, but after stopping the drug , you can gradually recover. Local skin lesions cause hair thinning or alopecia, more common in head lice, radiation dermatitis, leprosy, pyoderma and exfoliative dermatitis.
The hair is thinner: the diseased area is limited by subcutaneous fat and connective tissue atrophy, skin atrophy and wrinkles, often accompanied by hair loss, pigmentation, leukoplakia, telangiectasia, increased sweat secretion or reduced salivary secretion, sacral frontal bone, etc. Normal skin has a clear dividing line.
Post-pubertal patients have a female phenotype, good breast development, lack or sparse pubic hair and pubic hair, testicular mass in the inguinal canal, primary amenorrhea, blind vaginal and no uterus and other typical clinical manifestations and karyotype 46, XY can determine the diagnosis of testicular feminization. Similarly, prepubertal girls or female infants, chromosome karyotype 46, XY, large yin chun may touch the testicular mass or inguinal hernia also suggest this disease.
Plasma LH and testosterone levels are elevated, but can be normal during infancy. Pre-pubertal patients sometimes require an HCG stimulation test to reveal elevated testosterone levels.
Laboratory tests: characteristic changes in plasma hormone profiles, increased levels of LH and testosterone. The FSH level is normal or slightly elevated. DHT levels are generally lower than normal. Pre-pubertal patients may choose to have an HCG stimulation test.
Other auxiliary examinations: Regular B-ultrasound, monitoring testicular and breast development. Chromosome gene check.
