Vulva childish

Introduction The vulva is naive and has no pubic hair. It is common in patients with Turner syndrome, also known as congenital ovarian hypoplasia syndrome, which is the only known sex chromosome disease. Congenital ovarian hypoplasia, for women lacking an X chromosome caused by short stature, primary amenorrhea, neck sacral, elbow valgus and other abnormalities. The incidence of this type is low, accounting for 0.64% of female intellectual defects. Its clinical features are female appearance, short body, second characteristic dysplasia, lack of ovaries, and no fertility. Some patients have mild mental retardation. Some patients are accompanied by congenital malformations such as heart, kidney and bone.

Cause

Reasons for vulva childishness:

The pathogenesis of Turner syndrome is non-segregation during the formation of amphiphilic gametes, with approximately 75% of chromosome loss occurring in the father and about 10% of the loss occurring in the early cleavage of the zygote. Due to insufficient estrogen and no egg cells, the patient's female organ is poorly developed and primary amenorrhea. Lens opacity generally accounts for 33.3%, mainly small turbidity. The patient's eyes were highly myopic, the lens was completely gray-white and turbid, and type I diabetes was more common.

an examination

Related inspection

Vulvar gynecological routine examination gynecological examination

Vulvar naive diagnosis:

Turner syndrome is a rare sex chromosome abnormality syndrome. The incidence of the disease is 1/3000, and there are many types of karyotypes, of which 45X is the most common. Due to insufficient estrogen and no egg cells, the patient's female organ is poorly developed and primary amenorrhea. Lens opacity generally accounts for 33.3%, mainly small turbidity. The patient's eyes were highly myopic, the lens was completely gray-white and turbid, and type I diabetes was more common. In the primary hospital, due to neglecting a thorough examination of the whole body, it was misdiagnosed as a cataract.

The patient's phenotype is female, short stature, normal intelligence, but often lower than his compatriots, the face is triangular, often with ptosis and internal suture, etc., the maxillary narrow, the lower jaw is small and retracted, the mouth is down and shark The mouth of the neck, the hairline of the neck is very low, can extend to the shoulders, about 50% of patients have a neck, that is, excess wing-like skin, shoulder width, chest width as a shield, poor development of nipples and breasts, two nipples The width and elbow valgus are very typical in this disease. The fourth and fifth metacarpals are short and inward, and often have nail dysplasia. Lymphatic swelling in the instep of infancy is very special.

Abnormalities in the genitourinary system are mainly poor ovarian development (somatogonous glands), no follicular formation, uterine hypoplasia, often due to primary amenorrhea. Patients with low ovarian function have few pubic hairs, no hair, and the external genitalia are naive. In addition, approximately 1/2 of patients have aortic stenosis and horseshoe kidney deformity.

Differential diagnosis

Differential diagnosis of vulva and childishness:

The serum estradiol level was low, and follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased. The sex chromatin test was negative. The diagnosis must be done for chromosome examination, and its karyotype has the following types:

1 haplotype: 45, X0, is the most common type, with typical symptoms.

2 chimeric type: 45, X0/46, XX, if 46, XX cells are the main, the symptoms are mostly light, about 20% may have puberty development, menstrual cramps, some may have fertility, but its spontaneous abortion rate and The rate of stillbirth is high, and the risk of chromosomal aberrations in the offspring is also high.

3X chromosome structural aberration type: one X chromosome long arm and or short arm deletion, such as 46, Xdel (Xq) or 46, Xdel (Xp), and X and other chromosomes, such as 46, Xi (Xq) or 46, Xi ( Xp).

Turner syndrome is a rare sex chromosome abnormality syndrome. The incidence of the disease is 1/3000, and there are many types of karyotypes, of which 45X is the most common. Due to insufficient estrogen and no egg cells, the patient's female organ is poorly developed and primary amenorrhea. Lens opacity generally accounts for 33.3%, mainly small turbidity. The patient's eyes were highly myopic, the lens was completely gray-white and turbid, and type I diabetes was more common. In the primary hospital, due to neglecting a thorough examination of the whole body, it was misdiagnosed as a cataract.

The patient's phenotype is female, short stature, normal intelligence, but often lower than his compatriots, the face is triangular, often with ptosis and internal suture, etc., the maxillary narrow, the lower jaw is small and retracted, the mouth is down and shark The mouth of the neck, the hairline of the neck is very low, can extend to the shoulders, about 50% of patients have a neck, that is, excess wing-like skin, shoulder width, chest width as a shield, poor development of nipples and breasts, two nipples The width and elbow valgus are very typical in this disease. The fourth and fifth metacarpals are short and inward, and often have nail dysplasia. Lymphatic swelling in the instep of infancy is very special.

Abnormalities in the genitourinary system are mainly poor ovarian development (somatogonous glands), no follicular formation, uterine hypoplasia, often due to primary amenorrhea. Patients with low ovarian function have few pubic hairs, no hair, and the external genitalia are naive. In addition, approximately 1/2 of patients have aortic stenosis and horseshoe kidney deformity.

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