Sexually Transmitted Diseases - I. I. Mavrov 2005

Anomalies of the Urogenital System Development
Hermaphroditism

Hermaphroditism refers to the presence of both male and female sexual characteristics in the same individual. The differentiation of primary sex characteristics begins as early as the 3rd week of embryonic development. From this point onward, sexual divergence becomes apparent in The Structure of the gonadal primordia, with either the mesonephric (in male embryos) or paramesonephric (in female embryos) ducts developing predominantly. Development of the paramesonephric duct leads to The formation of the Uterus, uterine tubes, and Vagina, while the mesonephric ducts regress. In some cases, processes of "bisexual" development persist in one form or another into later stages, and a child is born with features of both sexes, the combination and degree of expression of which vary widely. Individuals who exhibit a mismatch between the structure of their Gonads and the appearance of their external genitalia or secondary sex characteristics are called hermaphrodites. A distinction is made between true and pseudohermaphroditism.

True hermaphroditism is characterized by the simultaneous presence in a single subject of gonadal tissue of both sexes, that is, follicles with oocytes and convoluted tubules with spermatogonia. It is extremely rare, with approximately 150 cases described in literature (S. Overzier, 1963; H. Jones, 1965, etc.). True hermaphroditism is predominantly associated with a female set of sex Chromosomes (46XX), whereas a male set (46XY) is noted infrequently. Typically, a uterus, uterine tubes, and vaginal vault are present; secondary sex characteristics generally pertain to both sexes.

Bilateral (Testis and Ovary present on each side) and unilateral (a testis and an ovary on one side, and either a testis or an ovary on the other) true hermaphroditism are distinguished. Another recognized form is lateral hermaphroditism, where an ovary is located on one side and a testis on the other, alongside a specific variant—bilateral hermaphroditism (ovotestis)—in which the gonad has a mixed structure: one part is organized as an ovary, the other as a testis.

In true hermaphroditism, the balance between the cortical and medullary Zones of the embryonic gonad is disrupted, causing gonocytes to reside in both zones, thereby inducing The Development of both ovarian and testicular structures.

Patients seek medical attention regarding Anomalies of the external genitalia or the underdevelopment of female features (if raised as females). In children, true hermaphroditism is diagnosed based on the ambiguity of the external genitalia. It is not uncommon for hermaphroditism to occur among members of the same family.

Four types of genital development are distinguished in hermaphroditism.

Type 1 - female-directed differentiation: a separate urethral meatus on the Perineum, a separate vaginal introitus, and a well-formed vaginal vestibule; the Clitoris is typically hypertrophied.

Type 2 - separate urethral meatus and vaginal introitus located within a rudimentary urogenital sinus; the hypertrophied clitoris resembles a Penis.

Type 3 - high positioning of the urethral meatus within the vagina, a formed small phallus; a Prostate Gland is occasionally detected.

Type 4 - male-directed Differentiation of the external genitalia: a Scrotum is present, with the urethral meatus located on the glans penis; the uterus and vagina are rudimentary.

Treatment depends on the patient's age. In children under 2 years of age, the choice of therapeutic measures is determined by the type of external genitalia: types 1, 2, and 3 should be managed toward female assignment, while type 4 should be managed toward male assignment. In older children, adolescents, and adults, the choice of treatment depends on gender identity, psychosexual orientation, and the Morphology of the external genitalia. If masculinizing therapy is indicated, the uterus and the portions of the gonad containing ovarian elements should be removed. In addition, a series of plastic surgeries are performed to fully masculinize the external genitalia. Conversely, if female secondary sex characteristics predominate in the patient, male components should be excised, and feminizing plastic surgery of the external genitalia should be performed, supplemented with estrogen therapy.

Pseudohermaphroditism occurs much more frequently. It is characterized by a mismatch between the external genitalia and secondary sex characteristics versus The Nature of the underlying gonad. Male and female types of pseudohermaphroditism are distinguished.

Male pseudohermaphroditism defines a condition in which the gonads and chromosomal Complement are of the male type, yet some (or even most) of the internal and external genitalia develop along female lines.

The external genitalia are typically ambiguous (hermaphroditic). There is a short phallus, the urethral meatus is located in the perineum, the scrotum is bifid, and the Testes are usually found in the inguinal canals, although they are frequently palpable in the scrotum; the vagina is short and narrow, and a uterus and tubes are present. In children, the external genitalia may be formed along female lines, with masculinization manifesting later—specifically, enlargement of the phallus occurs toward the end of Puberty.

The management of male hermaphroditism presents a complex medical as well as psychological challenge. When determining gender assignment in these cases, guidance must be taken from the patient's core gender identity and the Water/140.html">Anatomical Structure of their external genitalia. These two factors should play a decisive role. The chromosomal set and gonadal morphology cannot be considered definitive factors, although they are of substantial importance for classifying each specific case.

Only after the primary gender has been established and the gonads of the opposite sex have been removed is it appropriate to proceed with corrective surgical interventions and hormone therapy. Phalloplasty, urethropathy, and orchidopexy are performed. The child is raised as a boy. When choosing the patient's gender, it should be kept in mind that in cases of intersexuality, gender reassignment and correction are significantly easier to implement in the female direction than in the male.

Female pseudohermaphroditism is characterized by the presence of exclusively female gonads in the body (hence pseudo), whereas the external genitalia and secondary sex characteristics develop along male lines. There is a hypertrophied clitoris (at least 6 cm in length) with a large glans resembling a penis and a wide, wrinkled prepuce. The vaginal introitus is covered by a Skin fold. Occasionally, complete patency of the Urethra and closure of the vaginal introitus are observed, resulting in the formation of skin folds resembling a scrotum. The Labia minora are absent, while the Labia Majora bear a resemblance to a scrotum and contain one or both Ovaries. The urogenital orifice is located at the vertical Base of the clitoris.

Female pseudohermaphroditism is usually associated with congenital adrenal hyperplasia, along with disorders in the synthesis of cortisol and its progesterone precursors. A familial tendency toward adrenogenital syndrome has been demonstrated. Existing data suggest that adrenogenital syndrome is a hereditary disease transmitted in an autosomal recessive manner (W. Childs, M. Grumbach, 1956; L. Softer et al., 1961).

The primary Complaints relate to the difficulty in determining the child's sex due to the ambiguity of their external genitalia. During puberty or maturity, patients seek help regarding the underdevelopment of female sexual characteristics combined with short stature.

Treatment involves the administration of corticosteroids to suppress excessive ACTH secretion and reduce The production of adrenal androgens. Estrogens are also utilized to induce feminization. The earlier the Diagnosis is made and treatment is initiated, the greater the chances of preventing virilization and somatosexual anomalies (short stature, caricatured athletic build).

In some cases, genetic females may undergo a complete gender transition involving the erroneous assignment of male legal status and the development of a male gender identity in the child. Typically, this involves removing the uterus and its appendages and administering masculinizing therapy.

Most commonly in female pseudohermaphroditism, children are raised as girls. The hypertrophied clitoris is excised, and the elevated androgen activity—usually observed in connection with congenital adrenal hyperplasia—is suppressed using cortisone. Clitoridectomy is recommended between the ages of 1 and 3 years. Concurrently, plastic surgery is performed to separate the fused labia and create a vaginal opening. In cases of female pseudohermaphroditism without adrenal hyperplasia, the phallus-like clitoris is excised and the urogenital sinus is reconstructed to establish a separate vagina.

Therapeutic outcomes are not always successful. Even in instances where the diagnosis was established in a child before the age of 6, achieving complete bodily feminization is rarely possible. During treatment, side effects from corticosteroid therapy may arise, alongside unforeseen deteriorations in the patients' health, as the underlying enzymatic defect is challenging to correct.