Klaynfelter's syndrome

Description:

This chromosomal pathology happens quite often: it occurs on average 1:850 male newborns and at 1-2,8% of patients with an oligophrenia, is more often at superficial intellectual decrease. Among the men having infertility infertility, more, than more than 10% have additional X-chromosome. The age of parents at the child's birth with Klaynfelter's disease is increased by average: it is equal 35,5 years at fathers.

Symptoms of the Syndrome of Klaynfelter:

Outward of newborns with a syndrome usual. Changes, as a rule, begin to be shown clinically at prepubertatny and pubertal age.
Adult men have high growth, eunuchoid a constitution (long legs, a short waist, rather wide basin, an adiposity on female type), tendency to obesity, a gynecomastia. As the symptom, specific to a disease, which is not found at other forms of a hypogonadism distinguish rather short hands, their scope no more than on 2-3 cm exceeds growth while at other options of insufficiency of hormonal activity of gonads this distinction makes not less than 4 cm. This symptom comes to light in the dopubertatny period. Axillary pilosis is expressed insufficiently, on a pubis pilosis on female type, vegetation on a face insignificant or is absent. Often occurs at patients various dysplastic signs: the flattened nape, a hypertelorism, the epikant acting superciliary arches, the high sky, the wrong growth of teeth, the grown lobes, a clinodactyly of little fingers of brushes. Muscles are developed poorly, shoulders narrow, the thorax is flattened. The penis of the normal sizes or is reduced, testicles are considerably reduced, density of testicles is considerably increased, painless.
Mental retardation is noted at 25-50% of patients. Intellectual insufficiency is expressed unsharply, generally it is boundary mental retardation and moronity of various degree. Asthenic manifestations and lines of mental infantility are inherent to patients: instability of attention, increased fatigue, decrease in working capacity, the increased suggestibility, etc. Klaynfeltera is characteristic a certain dissociation between an underdevelopment of intelligence and immaturity of the emotional and strong-willed sphere of a syndrome.

Diagnosis:

The cross fold, distal arrangement of a triradius, increase in frequency of arches on fingers quite often occur among dermatoglifichesky signs.
The research of sperm reveals mature forms of spermatozoa only seldom or never. As a rule, it is found oligo-or an azoospermism. Find a hyperplasia of cells of Leydiga, hyalinization of seed cords in punctate of a small egg. Level of follicle-stimulating hormone is considerably increased.
Kariologichesky finds are various: in most cases  the classical karyotype 47, HHU is found; also karyotypes 48, HHHU meet; 49, HHHHU, and also various forms of a mozaytsizm: 47, HHU/46, HU; 47, HHU/46, XX; 47, HHU/46, HU/46, XX.
At three excess X-chromosomes (49, HHHHU) the symptom complex so differs from a classical syndrome of Klaynfelter that some clinical physicians allocate it in a separate syndrome-tetrasomiyu of X. At this syndrome low body weight at the birth is noted (on average 2600). The oval face, a hypertelorism, the slanting size of eyes, an epikant, squint is characteristic of appearance, the ridge of the nose is a little flattened, pressed, and the tip of a nose is hitched up. The mouth big, is accurately outlined, sometimes approaches triangular shape. Auricles are big, underdeveloped, are located below usual. The neck is short, wide. From a musculoskeletal system reveal difficulty of bending in elbow joints, restriction of supination, a clinodactyly of 5 fingers of a brush, is frequent a hip neck curvature with its valgus situation, a sandalevidny crack. The hypogonadism is sharply expressed, at a biopsy find the same changes, as at patients with a karyotype 47,HHU. Mental retardation at a tetrasomiya of HU meets in all cases and corresponds to deep moronity or a deficiency of intellect.

Treatment of the Syndrome of Klaynfelter:

Treatment of a syndrome of Klaynfelter, mainly hormonal, it is more preferable to begin from 10-12 years, therapy by drugs of male sex hormones improves a physical state. Usually appoint 1% or 5% Testosteroni propionas solutions on 0,5-1 ml intramusculary 2-3 times a week or sustanon-250 on 0,5-1 ml once a month, also 5-10 mg of methyltestosterone sublingual 2-3 times a day. However at the same time it is necessary to remember that hormonal treatment raises a sexual inclination. The expressed gynecomastia treat in the surgical way. At superficial intellectual decrease apply psychostimulants and neurometabolic drugs. For stimulation of growth of hair in the person use the pulverizing and ointments containing androgens. The risk of the repeated birth of the child with a syndrome Klaynfelter does not exceed 1% if a karyotype of parents normal.