Diagnosis of sexual dysfunction

The main principle of diagnostic research in the congenital pathology of sexual development is to elucidate the anatomical and functional state of all links that make up the concept of sex.

Inspection of the genitals. When a child is born in the definition of sex, the doctor is guided by the structure of the external genitalia ("obstetric floor"). With gonad agenesis and the full form of testicular feminization, the structure of the external genitalia is always feminine, so the issue of electing a female civic gender is decided unequivocally, despite the genetic and gonadal sex, which in the latter case will be masculine. In the syndrome of testicular feminization, the diagnosis in a number of cases can be established at the age of adulthood in the presence of testicles in "large lips" or inguinal hernias. Palpation of extra-abdominal testicles allows to determine their size, consistency, and suggest the possibility of tumor changes.

With abdominal cryptorchidism in boys and severe forms of congenital dysfunction of the adrenal cortex in children with a female genetic and gonadal sex, the structure of the penis may be normal, which often leads to an erroneous evaluation of the newborn girl as a boy with cryptorchidism. With Klinefelter's syndrome, the structure of the external genitalia at birth is normal male, which does not allow diagnosis on the basis of a routine examination. The intersex structure of the external genitalia in a newborn requires a more in-depth examination to establish the form of pathology and the choice of sex. Probing the vagina (urogenital sinus) allows to detect the absence or sharp shortening of it in the syndrome of testicular feminization and incomplete masculinization. Probing of the vagina is necessary in all cases of primary amenorrhea to exclude its aplasia. Rectal finger examination allows to establish the presence and size of the uterus, which is determined during agenesis and dysgenesis of gonads, as well as congenital adrenal cortex dysfunction in girls and absent in case of incomplete masculinization and testicular feminization. Ultrasound examination allows you to clarify the status of the uterus and gonads.

Somatic examination includes the identification of characteristic signs of the development of the skeleton, the muscular system, fatty tissue. Already at birth, the examination reveals the characteristic signs of the Shereshevsky-Turner syndrome (small growth, pterygopal edema of the neck, shortening of the IV-V metacarpal and metatarsal bones, edema (lymphostasis) of the extremities, etc.).

Tallness in the pubertal period with the formation of eunuchoid proportions of the skeleton is one of the signs of hypogonadism. On the contrary, with the early saturation of the child's body inadequately with a large number of sex hormones, the characteristic structure of the skeleton is formed: the shortening of the tubular bones of the limbs creates the impression of "chondrodystrophic" proportions. A similar structure of the skeleton is characteristic of congenital dysfunction of the adrenal cortex. In the pubertal period, the character of the development of secondary sexual characteristics acquires special significance. The early manifestation of male sexual characteristics with an undetermined structure of the external genitalia confirms the diagnosis of congenital dysfunction of the adrenal cortex in a girl. Absence of sexual pilosis and menstruation with the timely development of mammary glands and female features of the figure is characteristic of the testicular feminization syndrome. The inadequacy of genital traction with false male hermaphroditism testifies to the degree of inadequacy of androgenic function of testicles (or tissue insensitivity to androgens). The development of mammary glands in a boy is frequent in Klinefelter's syndrome. It should be remembered that some forms of congenital pathology of sexual development are accompanied by characteristic malformations of internal organs. Thus, in the syndrome of testicular feminization, there are abnormalities in the development of the kidneys and ureters, in the Shereshevsky-Turner syndrome - congenital heart and vascular malformations, kidneys.

The absence of gonads in agenesis or their insufficiency in dysgenesis already from pubertal, according to the principle of "feedback", causes activation of the hypothalamic-pituitary system, which often leads to the development of hypothalamic pathology similar to "castration syndrome" (vegetative-vascular dystonia, metabolic disorders, trophic ). Therefore, such patients require systematic observation of fluctuations in blood pressure, body weight, signs of the appearance of dystrophic "striae" on the skin. If necessary, an electroencephalographic study is administered. Normalization of the condition of the hypothalamic-pituitary system is an indirect indicator of compensation for the deficiency of sex hormones.

Genetic examination is necessary, and in the neonatal period - one of the main methods of diagnosis. The introduction into practice of the determination of sex chromatin (HRP) for all newborns will allow to diagnose diseases such as Klinefelter's syndrome, pure gonadal agenesis with masculine genetic floor, testicular feminization syndrome, Shereshevsky-Turner syndrome at birth, allow to differentiate congenital dysfunction of the adrenal cortex and idiopathic intrauterine virilization external genitalia in girls (positive HR) from abdominal cryptorchidism in boys and forms of false male hermaphroditism (negative HRP). The study of Y-chromatin by the fluorescent method makes it possible to detect the presence of the Y-chromosome, which is especially important for solving the problem of removing the rudiments of intraperitoneally located gonads in patients with the Shereshevsky-Turner syndrome (mosaic form) and "pure" agenesis of the gonads, since their rudiments in patients with XY-karyotype are especially dangerous oncologically. In doubtful cases, it is necessary to determine the chromosome set (karyotype).

X-ray and ultrasound examination. Radiography of brushes with wrist joints in dynamics allows you to monitor the rate of maturation of the skeleton and assess the adequacy of replacement therapy, and also reveals characteristic anomalies in the development of the skeleton (shortening of metacarpal bones, deformation of Madelung, etc.). Radiography of the skull and Turkish saddle makes it possible to characterize the state of the pituitary gland, reveal endocraniasis or symptoms of increased intracranial pressure, osteoporosis of the skull bones. X-ray contrast methods (pneumopelvigraphy, sinuso-vaginography, intravenous pyelography) are needed to clarify the condition of the genital organs and exclude concomitant malformations of the urinary system. At the same time, the information content of ultrasound is also high.

Hormonal examination of 17-ketosteroids (17-CS) and 17-oxycorticosteroids (17-ACS), 17-hydroxyprogesterone (17-OP) is necessary if there is a suspected congenital dysfunction of the adrenal cortex: elevated levels of 17-CS and 11-OP at normal or reduced content of 17-ACS speaks in favor of this pathology. A test with inhibition of the adrenal cortex function with dexamethasone and simultaneous stimulation of gonads with a chorionic gonadotropin makes it possible to ascertain their source (adrenal or gonadal), assess the ability of gonads to respond to stimulation, and provide specific information for the diagnosis of tumor processes in the adrenal glands or gonads. The functional activity of the latter is characterized by the results of the study of testosterone and estradiol.

The study of gonadotropins (LH and FSH in blood and / or urine) allows differentiating hypo- and hypergonadotropic hypogonadism from primary gonadal lesions (agenesis, dysgenesis). In puberty and postpubertal age, an increase in the level of gonadotropic hormones, especially FSH, is characteristic.

Histological examination of the gonads is the final stage of the examination. It is necessary for the exclusion of the sexual development of tumoral changes of the gonads, which is quite often encountered in congenital pathology. This is especially important in the detection of the Y chromosome in patients with "pure" agenesis of gonads, with Shereshevsky-Turner syndromes and gonadal bipolarity, and with all forms of false male hermaphroditism with intraperitoneal gonadal arrangement. In addition, it gives a clear idea of the prognosis of the functional activity of the gonad.

Differential diagnosis of sexual dysfunction

Differential diagnosis of Shereshevsky-Turner syndrome is carried out with phenotypically similar Noonan syndrome, described in 1963, proceeding, as a rule, without gross chromosomal abnormalities. Syndrome Noonan occurs in patients of both sexes. A characteristic symptom complex in male patients was previously called the Shereshevsky-Turner syndrome in men. It is assumed that the disease is caused by an autosomal gene mutation, which is transmitted dominantly. There are observations of family forms of the disease in several generations, in particular with transmission through the male line. The syndrome of Noonan is characterized by all the abnormalities of somatic development observed in the Shereshevsky-Turner syndrome, but the sexual development in most patients is not disrupted. Fertility may sometimes persist. Individual patients have karyotype 46, XX / 45, X or 46, XY / 45, X, and sometimes deletion of the short arm of the X chromosome. This is accompanied by different severity of ovarian or testicular dysgenesis, cryptorchidism, and the like.

The Shereshevsky-Turner syndrome must also be differentiated from the "turnaround" form of the testicular dysgenesis syndrome according to the presence of the 46, XY / 45, X mosaicism at the last normal male karyotype or mosaicism (which is rare in the Shereshevsky-Turner syndrome), satisfactory development of testicles and, as a rule, more pronounced masculinization of the external genitalia.

"Pure" agenesis of gonads is differentiated from hypogonadotropic hypogonadism in the level of gonadotropins (increased at the first and lower in the second form of pathology), from the eunuchoid form of testicular dysgenesis syndromes and incomplete masculinization in satisfactory development of testicles, and with the incomplete masculinization syndrome - and in the absence of the last derivatives Muller derivatives.

The main method of diagnosis and differential diagnosis of true hermaphroditism - the most rare form of the pathology of sexual development - is histological evidence of gonadal bipolar disorder.

Differential diagnosis of the syndrome of incomplete masculinization is carried out with the syndrome of dysgenesis of testicles and congenital dysfunction of the adrenal cortex. In contrast to the syndrome of dysgenesis of testicles in the syndrome of incomplete masculinization, the uterus is absent, the vagina is a shortened blind sac. Unlike congenital dysfunction of the adrenal cortex in girls, patients with incomplete masculinization syndrome have negative sex chromatin, have no uterus and ovaries, and in pubertal are not ahead of the curve, but with a retardation of bone age from the actual, they develop male secondary sexual characteristics.

Differential diagnosis of testicular feminization syndrome should be performed with the syndrome of incomplete masculinization, testicular dysgenesis syndrome and congenital aplasia of the vagina and uterus (Rokitansky-Küster-Mayer syndrome). In the adjective, it is clinically impossible to distinguish the first two syndromes from each other. However, in pubertal, in contrast to the syndrome of incomplete masculinization in testicular feminization, spontaneous development of mammary glands occurs. The main differential-diagnostic sign from the syndrome of dysgenesis of testicles is the absence of the uterus. With the Rokitansky-Küster-Meyer syndrome, the vagina and the uterus are absent, spontaneous female spontaneous development of the sex characteristics is developing spontaneously, positive sex chromatin and normal ovaries are present.

Differentiate idiopathic congenital virilization of the external genitalia from the congenital dysfunction of the adrenal cortex in girls: in either case, the genetic, gonadal and internal genitalia are female, external genitalia are sexually defined. Only hormonal diagnosis (excess adrenal androgens, 11-OP, increase in the level of 17-CS urine) and at an older age, acceleration of maturation of the skeleton and premature sexual development in a heterosexual (male) type allow a differential diagnosis.

[1], [2], [3], [4], [5], [6], [7], [8], [9]