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Ambiguous external genitalia and anomalies of sexual development


When at birth it is not possible to clearly determine the sex of the child on the basis of external genitalia, this is called “ambiguous external genitalia”. This is due to disorders of the sexual development process caused by differences in sex chromosomes, genes and hormones. Anomalies of the sex chromosomes such as Turner syndrome (for example, with sex chromosome X), Klinefelter syndrome (for example, with sex chromosome XXY) and mixed abnormalities of the development of the sex glands can cause ambiguity. In the case of sex chromosome XX (genetically female), other causes are possible, for example, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, abnormalities in the genes responsible for sex formation, for example, a shift in the SRY gene, mutations in the NR5A1 gene, or abnormalities in the development of the uterus. Sometimes exposure to male hormones in utero can also have an effect. With the XY sex chromosome (genetically male), possible causes of ambiguity include androgen sensitivity syndrome, congenital adrenal hyperplasia, 5-α reductase deficiency, mutations in the SRY gene, Smith-Lemley-Opitz syndrome, and others.

The development of reproductive organs depends on sex chromosomes. In men, the testes are formed due to the presence of the Y chromosome, which stimulates the production of male sex hormones in the testes and the formation of male external genitalia under the influence of these hormones. In women, there is no effect of male hormones, which leads to the development of external genitalia in the female type. Violations in these processes can lead to a mismatch between the genetic sex (XX or XY) and the internal and external genitalia.


In most cases, ambiguous external sexual characteristics are detected immediately after birth, although in some cases signs may be noticed during prenatal screening. The causes of such manifestations are diverse, and in some cases, the external genitalia at birth look almost normal. However, during adolescence, there may be a lack of secondary sexual characteristics, or the process of masculinization may begin in girls. In most cases, the changes are associated exclusively with the development of the genitals, but sometimes other systemic diseases can manifest themselves. For example, in genetic girls (with XX chromosomes), the clitoris may be enlarged and resemble a penis, and the labia may be fused and resemble a scrotum. There may be something similar to a testicle on the outside of the labia. Genetic boys (with XY chromosomes) may have an abnormal location of the opening for the excretion of urine or sperm – it is not located at the tip of the penis, but closer to the abdominal cavity. These abnormalities include hypospadias and penis defects, as well as cases where the testicles do not descend into the scrotum.


In the case of ambiguous external genitalia in a newborn baby, it is recommended to consider the possibility of additional tests to determine the sex after birth. It is important to clarify the full picture of the child’s condition and conduct a comprehensive diagnosis before making any definite conclusions about his gender. Given that abnormalities in sexual development can have a variety of causes, establishing a correct diagnosis may require multiple blood tests and imaging studies for a long time.

The medical assessment process includes an anamnesis analysis, including checking for the presence of factors that may affect the development of the genitals, for example, taking certain drugs that can affect the hormonal balance, and checking for the presence of any diseases in the mother that may increase the level of male sex hormones. Next, a medical examination is carried out, which provides for a detailed study of the shape of the external genitalia and the general condition of the baby. Additionally, chromosomal, hormonal and genetic tests are performed, as well as an assessment of electrolytes and blood sugar levels. To obtain information about the structure of the internal genitalia, such as the testicles, ovaries, uterus and vagina, imaging methods are used, for example, ultrasound (ultrasound), magnetic resonance imaging (MRI) and other similar procedures.

Treatment and course of the disease

The sex of the child should be determined taking into account a variety of factors, including the causes identified during the examination and testing, genetic sex, the structure of external genitalia, spontaneous changes in the level of sex hormones, the function of the genitals and the possibility of future pregnancy, as well as the potential sexual identity of the child. After sex determination, appropriate treatment is prescribed, taking into account the long-term psychological and social well-being of the child. The presence of ambiguous external genitalia in a child causes concern in most families. This problem is solved in cooperation with the medical team to provide the child with the necessary treatment. Treatment associated with hormonal imbalance involves the introduction of the necessary hormones, as well as the use of surgical methods, taking into account the functional features of ambiguous external genitalia, in order to give them a typical appearance of the external genitalia of men and women. Regular physical examinations are carried out to monitor growth and development. If hormone therapy is needed, the efficacy and safety of the appropriate hormonal drugs are evaluated on the basis of blood tests aimed at measuring hormone levels. When a child reaches puberty, regular examinations are carried out by a gynecologist or urologist.


Among the possible complications there are cases of infertility. This can happen if testicular or testicular-like tissue does not descend into the scrotum and remains in the abdominal cavity, which increases the risk of testicular cancer.

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