The vulva is immature without pubic hair

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. 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.

Cause

The reason why the vulva is naive and has no pubic hair:

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.

an examination

Related inspection

Gynecological routine examination of genital gynecological routine examination

The vulva is diagnosed as a naive type without pubic hair:

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 in a naive type without pubic hair:

Klinefelter syndrome is also a sex chromosome abnormality, showing X multi-body Y monomer, the more X chromosome, the more serious the lesion. The most common type is 47,XXY, and there are several chimeric types such as XY/XXY, XY/XXX, XY/XXYW. Because the extra X chromosome gene mainly determines the seminiferous tubule distortion of the testis, it is also known as the seminiferous tubule development disorder. The patient's performance is hairy, pubic hair is scarce or absent, and the penis and testicles are small. Infertile, less refined, can be accompanied by male breast development, poor mental and other symptoms.

XX male syndrome: The patient's sex chromosome is XX type. However, the gender is male, but a small fraction of the Y chromosome is transferred to the X chromosome or is a concealed chimera. Clinical manifestations of short stature, secondary sexual dysplasia, small penis, testis, azoospermia and infertility.

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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