Shereshevsky – Turner’s syndrome (gonadal dysgenesis) –
a disease caused by abnormal sex chromosomes, following
The result is a sharp disruption of the development of the gonads in the early
The syndrome is relatively rare (1 case per 3000 born girls).
Historical data. In the first s and n d r o m o p and with a and NN. A. Shereshaskov
in 1 9 2 5 g., and l and sh and zh and n and h and tel’n about about a d d e e – T ernerom (1 9 3 8).
Etiology. Nondisjunction of sex chromosomes in the process
meiosis in parents.
Pathogenesis. The basis of the disease is the anomaly of the genital
chromosomes which in turn leads to congenital anomalies
sexual differentiation, and often to various somatic
anomalies. Instead of the inherent female body XX
Of sex chromosomes, most often there is only one X chromosome.
This is due to the loss of the second sex chromosome.
in the process of meiosis. This causes incomplete chromosomes.
ny set (45X karyotype). However, in this disease can
There are various variants of mosaicism: 45X / 46XX; 45X / 46XY;
45Х / 47ХХХ and others. Congenital absence of the sex glands in the pub
Tat period causes hypogenitalism. Related harak
terrible symptoms (growth retardation, congenital heart defects,
kidney malformations, etc.) depend on gene pathology
autosome Pathological anatomy. Gonads are absent, instead
there are only connective tissue cords. The uterus is hypoplastic
on. Various inborn defects of internal are found
© pify-new (double ureters, occlusion of the renal arteries, coarsenal
th t u and i aorta, etc.).
Shereshevsky — Turner’s syndrome in a patient of 16 years
with 45 X chromosomal complex: growth retardation, absence
secondary sexual characteristics, wide skin folds
the edges of the neck, low border hair growth.
growth delay proportional. Stunting
usually begins in the first years of the child’s life, however
it becomes most pronounced during puberty
of Often there is a shortening of the lower jaw. Ear plugs
shells are low. Low on back of neck.
border hair growth. I am usually short. There are often
skin folds going from the head to the shoulders, which gives pain
Mu kind of sphinx. Chest wide. Often marked
skeletal abnormalities: depression in the sternum region, shortening
IV and V metacarpal bones, moderate bone age lag
from passport, not exceeding usually 3 years, high solid
palate, moderate osteoporosis, etc.
Often marked malformations of internal organs:
non-invasion of the interventricular septum and arterial
(botallova) duct, pulmonary stenosis, aortic isthmus
etc. Due to the occlusion of the renal arteries, it often develops
400 is arterial hypertension. In some cases, there are defects
kidney development (double pelvis, hypoplasia or horseshoe
naya kidney, etc. ). Often there are birth defects of the body
vision (ptosis, color blindness, strabismus, etc.). Secondary sex
signs are absent or mild (poor body hair)
pubic and armpit, lack of mammary glands, amenorrhea).
Hypoplasia of the labia majora and labia, uterus,
narrow vagina. Ovaries are not defined. If you have pain
primordia of testicular tissue (chromosome complex 45X / 46XY)
there are virilization features (clitoral hypertrophy, hirsutism,
hypertrichosis, etc. ). Sometimes there is a slight decrease.