Enlarged clitoris (clitoromegaly) is an increase in the size of the outer part of the clitoris. The main manifestation of enlarged clitoris is the length of the clitoris more than 2 centimeters, when the organ resembles a small penis. Diagnostic methods are external examination, hormonal profile analysis, genetic examination, ultrasound of the genitals, adrenal glands according to indications. Specific treatment involves surgical correction, possibly spontaneous reduction of the size of the clitoris during drug therapy of hormonal disorders.
ICD 10
52.6 Congenital anomaly of the clitoris
General information
Enlarged clitoris is also called macroclitoris or hypertrophy of the clitoris. The clitoris is a woman’s external genital organ located at the upper edge of the labia minora. It consists of two legs that attach to the pubic bones, the body and the head. Usually the visible part is only the head measuring 3-4 mm in diameter and up to 5 mm in length. The head is covered with foreskin, which can hang like a hood and create the appearance of an enlarged clitoris. To properly assess the size, the foreskin must be shifted.
Causes of enlarged clitoris
Enlarged clitoris is not an independent pathology. It can form in utero or appear during life under the influence of a number of etiofactors: hereditary or hormonal. Causes of congenital clitoromegaly:
- Adrenogenital syndrome. The frequency of occurrence is 1:18000. With congenital dysfunction of the adrenal cortex (CDAC) due to an enzymatic defect, the adrenal glands produce a large number of androgens. In addition to clitoromegaly in girls with this pathology, the external genitalia are similar to men’s, a genetic examination may be required to determine the sex.
- Fraser syndrome. This is a rare autosomal recessive disease (1:250,000) associated with impaired development of skin and epithelial integuments. In addition to clitoromegaly, such children have multiple malformations: finger fusion, eye defects, kidney abnormalities.
- Taking hormones during pregnancy. Synthetic hormonal drugs danazol and ethisterone are widely used for the treatment of gynecological diseases. At the onset of pregnancy, their use is contraindicated, since the drugs cause intrauterine masculinization of the female fetus.
- Neurofibromatosis. Hereditary disease (1:3500), causing the development of multiple tumors in humans. The defeat of the urogenital zone in this pathology is rare. Enlarged clitoris in this case is not associated with hormonal causes.
Enlarged clitoris can occur in adulthood due to excessive exposure to androgens. An increased amount of androgens is produced in the female body itself during diseases or they are artificially injected by athletes to gain muscle mass. Causes of acquired clitoromegaly:
- Hormone-active ovarian tumors. The most common neoplasms of this type include granulocellular tumor, androblastoma and tecoma. Usually these tumors are benign in nature. They are mainly found in women over 40-50 years old, except for androblastoma, which is characteristic of reproductive age.
- Virilizing tumors of the adrenal glands. The neoplasm that produces androgens is androsteroma. It originates from the reticulated zone of the adrenal cortex. It is more common in women under 40 years of age, in half of cases it is malignant, it gives metastases to the lungs, liver, retroperitoneal space.
Pathogenesis
An increase in the level of androgens in a woman leads to the formation of male signs (masculinization), including an increase in the clitoris. The clitoris is a sensitive organ to the action of sex steroids. Active forms of male sex hormones (testosterone, dihydrotestosterone) in an adult woman, they stimulate the growth of the cavernous bodies of the clitoris, increase blood supply, and activate cell division. All these processes lead to the development of clitoromegaly.
In the prenatal period, CDAC lacks enzymes that convert precursor hormones into cortisol and aldosterone. Hormonal synthesis follows the path of androgen formation with a characteristic effect on the formation of sexual characteristics. In the case of a lack of androgens in a fetus with a male genotype, on the contrary, the development of normal sex signs stops with the appearance of a female phenotype and an underdeveloped penis, which is mistaken for a hypertrophied clitoris.
Classification
In severe cases of enlarged clitoris, other signs characteristic of the male sex are also found. The Prader scale is used to assess the degree of intersexuality. It is primarily used in infants with CDAC and has 6 stages:
- 0 degree — normal female genitalia.
- Grade 1 — a slight increase in the clitoris and a decrease in the vestibule of the vagina (high perineum). This option can be regarded as the norm.
- Grade 2 — clitoromegaly, a small opening of the vagina, a separate external opening of the urethra. The labia are reduced, but the posterior spike is present.
- Grade 3 — micropenis is determined instead of the clitoris, the labia are almost completely fused, the common opening of the vagina and urethra (urogenital sinus) is determined under the penis.
- Grade 4 — the genitals are more like men’s than women’s. The penis is of normal size, but without sufficient release of the foreskin when pulled up. The fused labia form an empty scrotum, the opening of the urethra is located under the penis or on its body.
- Degree 5 — complete masculinization with external male genitalia, but an empty scrotum. The opening of the urethra is located near or at the top of the penis head. Such newborns are mistakenly considered boys with undescended testicles.
- Grade 6 — normal male genitalia.
Symptoms of enlarged clitoris
Congenital form
In adolescents with impaired sexual differentiation, virilization symptoms may manifest during puberty. Before puberty, as a rule, such a child is brought up as a girl. It happens that from the moment of puberty, the sensitivity of androgen receptors is partially restored in a child with a male set of chromosomes. Signs of virilization, including clitoromegaly, appear sharply, which can cause stress in a teenager and parents. In this case, a psychologist’s consultation is desirable.
Congenital forms of enlarged clitoris are characterized by signs of pseudohermaphroditism. This means that both male and female features are present in the structure of the external genitalia. With CDAC, newborn girls are often mistakenly assigned male gender. The correct diagnosis is established when symptoms of aldosterone deficiency appear: vomiting, weight loss, stool disorders.
In non-hormonal genetic diseases (Frazer syndrome, neurofibromatosis), clitoromegaly is determined together with other anatomical anomalies. Frazer syndrome is characterized by underdevelopment of the eyelids, eyeballs, fusion of fingers and lack of entrance to the vagina. Signs of neurofibromatosis are coffee-colored spots on the skin, multiple tumors, neurological symptoms.
Acquired form
Enlarged clitoris is never isolated and does not occur as a single anomaly. For the development of acquired clitoromegaly, it is necessary to exceed the normal testosterone level by 5-8 times for at least two years. Therefore, along with hypertrophy of the clitoris, there are other symptoms of virilization.
In adulthood, there is increased greasiness of the skin, acne, a decrease in the timbre of the voice. Excessive sebum production leads to the effect of dirty hair, a sharp smell of sweat appears. Over the upper lip, on the chin, chest and stomach, stiff rod-shaped hair begins to grow. Gradually, there is a decrease in the volume of the mammary glands, menstruation stops.
Diagnostics
A gynecological examination is sufficient to detect clitoromegaly. Further diagnosis consists in identifying the underlying disease, the symptom of which is an increase in the clitoris. The set of laboratory and functional studies depends on the patient’s age and medical history. An endocrinologist is necessarily involved in the diagnosis, sometimes a medical geneticist. The list of studies includes:
- Hormonal profile. With the hormonal nature of diseases, a significant increase in testosterone levels is determined. CDAC is characterized by an increase in the content of 17-hydroxyprogesterone, for adrenal tumors — dihydroepiandrotestosterone sulfate. With non-hormonal causes of clitoromegaly, androgens are normal.
- Genetic research. In children and adolescents, in order to choose treatment tactics, it is necessary to find out the genetic sex by determining the sex chromatin. In non-hormonal hereditary diseases, it is important to correctly identify the genetic syndrome. To do this, karyotyping is carried out — counting the number and evaluating the structure of chromosomes.
- Sonography. In adult patients, internal organ imaging techniques (ultrasound of the ovaries, adrenal glands) are used to search for androgen source tumors, assess the presence or absence of metastases. In children and adolescents, the structure of the internal sexual apparatus is studied for anomalies and gender conformity.
Treatment of enlarged clitoris
Surgical treatment
In patients with acquired clitoromegaly, hormone-active tumors of the gonads or adrenal glands are removed. The operation is performed in the volume of oophorectomy, adnexectomy, adrenalectomy. The question of the formation of the sex of a child (teenager) with signs of intersexuality is decided on the basis of genetic analysis and psychological reasons. If at an early age it is most often decided to form a gender in accordance with the genetic, then in adolescents — according to psychological affiliation.
With a male genotype and a female phenotype, treatment begins with surgical removal of defective male gonads from the abdominal cavity. This is done because of the danger of their malignancy, which develops in 50% of cases. The operation to reduce the clitoral size is called reduction clitoroplasty. This intervention allows you to maintain the sensitivity of the clitoral head.
Conservative treatment
Hormone therapy is always prescribed for CDAC, since during the correction of hormone levels, the genitals begin to develop according to the female type. Glucocorticosteroids and mineralcorticoids are used in the treatment. The remaining defects are surgically corrected no earlier than 15-17 years. Children with genetic sex abnormalities need lifelong intake of female sex hormones.
Prognosis and prevention
The earlier the diagnosis is made and treatment is started, the better the prognosis for life and health. To prevent hormonal metabolism disorders, women should not take male sex steroids without a doctor’s appointment. When treating with drugs that have a teratogenic effect, contraception must be strictly observed. Regular medical examinations help to identify signs of a violation of the formation of sex, tumors, enzymatic defects at the earliest stage and timely treatment.
