Form Of Dysgenesis Research Articles

Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is recorded more often than other forms of XY-dysgenesis of gonads. Based on these results of the one female, the diagnosis of Swiera syndrome (complete genital dysgenesis: impaired sexual development) was suspected.

Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is recorded more often than other forms of XY-dysgenesis of gonads. Based on these results of the one female, the diagnosis of Swiera syndrome (complete genital dysgenesis: impaired sexual development) was suspected.

Показатели соматического статуса у больных с врожденной гидроцефалией

The paper studies the state of somatic status in 57 patients with General and internal congenital hydrocephalus in children from 3 months to 3 years. In addition to computerized tomography, magnetic resonance imaging, electroencephalogram, ultrasound investigation in different groups of patients studied, the intensity of psychosomatic condition, in particular depending on the stage, severity and form of dysgenesis (mono– and poly dysgenesis). The main neurological syndromes of the disease with disorders of nervous innervation, cardiovascular system, mental development. Depending on the severity of the pathology, the effectiveness of the developed treatment approaches has been established. The possibility of recovering psychosomatic status from the progredience of the course of the disease has been clarified.. The study of the immediate and in some patients with catamnesis showed that as a result of treatment, mental development was most fulfilled in patients with moderately active congenital hydrocephalus, among whom the proportion of patients with a normal level of intellectual development was about two thirds (p<0.01) due to a significant reduction in the number of children with mental retardation (p<0.01). Among patients with severe active congenital hydrocephalus, there was a significant decrease in the number of patients with mental retardation (p<0.01) and an increase in the number of children with intellectual disabilities (p<0.01), due to the maturation of patients and the expansion in the process of complex treatment and dynamic observation of opportunities to clarify the degree of mental insufficiency, rather than progredience of the disease.

Indications for the surgical intervention in endocrine disorders of the ovaries

Endocrine disturbances of the ovaries with indication for surgery are rare. They require close cooperation between paediatric endocrinologist and paediatric surgeon. Clarification is mainly based on endocrinological findings and ultrasound examination of the ovaries. The following disturbances are discussed: Central (genuine and peripheral or pseudo-) precocious puberty, hormonally active ovarian tumours and cysts, the various forms of dysgenesis of the gonads, especially tumour-prone mixed gonadal dysgenesis with XO/XV karyotype, the syndromes of polycystic ovaries, and girls who grew up as boys with male external genitals.