Super female

Introduction Super-estrus syndrome is a disease of a sex chromosome abnormality. There are three or more X chromosomes in the patient's nucleus (two in normal women). The patient's appearance is female, with normal menstruation and fertility, except for affecting intelligence, there may be no other abnormalities. Super-estrogen syndrome is also known as super-x syndrome. The normal female karyotype is 46, XX, and the majority of the karyotype of this syndrome is 47, XXX, and there are also a few divisions of 48, xxxX, 49, XXxXX; some people with normal cell type or 45, xO chimerism . Mothers born to such children tend to be older.

Cause

Most patients generally develop normally, but their intelligence is low, and the more X chromosomes, the more severe the mental retardation. The external genitalia is the same as normal women, and the gonads are dysplastic, but most of the ovaries may have normal follicles, and some have small uterus. About 20% of puberty has different degrees of amenorrhea or irregular menstruation, and some people do not go through early. Only a few have fertility, and most have low fertility or no fertility.

an examination

Super-estrogen syndrome is also known as super-x syndrome. The normal female karyotype is 46, XX, and the majority of the karyotype of this syndrome is 47, XXX, and there are also a few divisions of 48, xxxX, 49, XXxXX; some people with normal cell type or 45, xO chimerism . Mothers born to such children tend to be older, but their parents' chromosomes do not change abnormally.

Differential diagnosis

The differential diagnosis of super female:

1. Klinefelter syndrome (Klinefelter syndrome)

Also known as congenital testicular hypoplasia or primary small testicular disease. The patient's sex chromosome is XXY, which is an X chromosome more than normal males, which is often referred to as XXY syndrome.

The incidence of Klinefelter syndrome is quite high, reaching 1.2% in male newborns. According to Caucasian data, the prevalence of men weighing 180 cm is 1/60, which is 1 in 100 in mental patients or criminal institutions, and about 1 in 20 in infertility. The clinical manifestation is that the testes are small and hard, and the seminiferous tubules are atrophic and have a glassy change. Because of the absence of sperm, 97% of patients are infertile. The second sexual characteristics of male patients are poorly developed, with feminine manifestations, such as no beard, less body hair, pubic hair distribution such as female, penile glans, etc., about 25% of patients have breasts. The patient is tall. The limbs are long, some patients (about 1/4) have mental retardation, and some patients have mental disorders and a tendency to suffer from schizophrenia. Laboratory tests showed an increase in estrogen and an increase in 19-progesterone, and hormonal imbalance may be associated with feminization of the patient.

The karyotype of most patients is 47,XXY. Approximately 15% of patients are chimeras of two or more cell lines, of which 46, XY/47, XXY; 46, XY/48, XXXY are common. The extra X is the result of the X chromosome not being separated due to parental meiosis.

Treatment with testosterone can achieve certain effects, which can promote the psychological state of patients with secondary sexual characteristics and sexually transmitted diseases.

2.XYY syndrome

The incidence rate in male infants is 1:900. XYY male phenotype is normal, the patient is tall, often more than 180cm, occasionally visible cryptorchidism, testicular hypoplasia and fine process disorders and fertility decline, hypospadias, etc., but most men can have children. XYY individuals are prone to excitement, easy to feel unsatisfied desires, tired of learning, self-restraint, and prone to aggressive behavior. The XYY karyotype is the result of the Y chromosome not separating when the second meiosis occurs during the father's sperm formation.

3.Turner syndrome

Also known as 45, X or 45, XO syndrome, female congenital gonadal dysplasia or congenital ovarian hypoplasia syndrome. The incidence rate in newborn girls is about 0.2-0.4, but the incidence of Turner syndrome in spontaneous abortion embryos can be as high as 7.5%. The patient's phenotype is female, short stature, normal intelligence, but often lower than Its compatriots are triangular in shape, often with ptosis and internal suture. The maxillary is narrow, the lower jaw is small and retracted, and the sinus is shark-like. The hairline of the neck is very low and can be extended to the shoulder. About 50% of patients have neck, that is, excess wing skin, shoulder width, chest width as shield, poor development of nipple and mammary gland, wide nipple width, elbow eversion in this disease is very typical, fourth, fifth The metacarpal bone is short and inward, and often has 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.

In addition to the typical 45, X (about 55%) of the karyotype of Turner syndrome, there are various karyotypes of chimeric and structural abnormalities. The most common are chimeric types 46, XX/45, X and 46, X, i (Xq). In general, the chimeric type has a milder clinical manifestation, while the chimeric type with the Y chromosome can exhibit masculine characteristics. The short stature and other Turner symptoms are mainly determined by the X short arm monomorphism, but the ovarian development Incompleteness and infertility are more related to long arm monosomy.

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.

Except for a small number of patients who died of neonatal death due to severe malformations, they generally survived and were only detected during puberty. Its mental retardation is also mild, and the application of hormones before the age of 14 can promote the development of secondary sexual characteristics and reproductive organs, menstrual cramps, psychological changes, but can not promote the growth of high, individual patients can give birth.

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