Undefined genitals: what is this, causes, symptoms, diagnostics, treatment, prevention

Ambiguous genitalia; Genitals – ambiguous

“Неопределенные гениталии” – это состояние, when the genitals (genitals) human cannot be classified as male or female. It may be caused by hereditary factors, such as genetic diseases, or environmental factors, such as exposure to hormonal disruptors during pregnancy. This condition requires a specialized medical examination., including hormonal and genetic testing, to determine the cause and plan treatment. This may include surgery or hormone therapy.

The genetic sex of a child is determined at conception. Яйцеклетка матери содержит Х – хромосому , and the father's sperm contains either X-, or Y-chromosome. These X- and Y chromosomes determine the genetic sex of a child.

Normally, an infant inherits 1 a pair of sex chromosomes, 1 X from mothers and 1 X or one Y from father. The father "determines" the genetic sex of the child. Child, who inherits the X chromosome from his father, is a genetic female and has 2 X chromosomes. Child, who inherits the Y chromosome from his father, is a genetic male and has 1 X- and 1 Y-chromosome.

Male and female reproductive organs and sex organs come from the same fetal tissue. Indeterminate genitalia may develop, if the process is broken, which causes this fetal tissue to become "male" or "female". This makes it difficult to easily identify an infant as male or female.. The degree of ambiguity varies. Very rarely, physical appearance can be fully developed as the opposite of genetic sex.. For Example, a genetic male can look like a normal female.

In most cases, indeterminate genitalia in genetic females (children with 2 X-chromosomes) have the following features:

• Enlargement of the clitoris, like a small penis.
• urethral opening (where does urine come from) can be located anywhere along, above or below the surface of the clitoris.
• The labia may grow together and look like a scrotum.
• Baby can be mistaken for a man with undescended testicles.
• Sometimes a lump of tissue is felt in the fused labia, what makes them look like a scrotum with testicles.

In a genetic male (1 X and 1 Y chromosomes) ambiguous genitals most often include the following features:

• small penis (less than 2-3 centimeters), which looks like an enlarged clitoris (The clitoris of a newborn girl is usually somewhat enlarged at birth.).
• The urethral opening can be located anywhere along the, above or below the penis. He can be so low, like a crotch, what makes a baby look more like a woman.
• May be a small scrotum, which is separated and looks like labia.
• Undescended testicles are commonly found with dual genitalia.

Undefined genitals, with a few exceptions, most often not life-threatening. However, this can create social problems for the child and family.. For this reason, a team of experienced professionals will be involved in the care of the child., including neonatologists, geneticists, endocrinologists, psychiatrists or social workers.

Reasons for the development of indeterminate genitalia

Causes of indeterminate genitals include:

• Pseudohermaphroditism. Same sex genitals, but some physical characteristics of the other sex are present.
• True hermaphroditism. This is a very rare condition., in which there is tissue like the ovaries, and testicles. Baby can have parts like men's, and female genital organs.
• Mixed gonadal dysgenesis (MGD). It's an intersex condition, in which some male structures are present (gonads, testicles), as well as the uterus, vagina and fallopian tubes.
• Congenital adrenal hyperplasia . This state has several forms., but the most common form makes the genetic female appear male. Many clinics test for this potentially life-threatening condition during newborn screenings..
• Hromosomnыe anomalies, including Klinefelter syndrome (XX) and Turner's syndrome (XO).
• If the mother is taking certain medications (eg, androgenic steroids), a genetic woman may look more like a man.
• Lack of production of certain hormones can lead to, that the embryo will develop with a female body type, regardless of genetic sex.
• Absence of testosterone cellular receptors . Even if the body produces hormones, necessary for the physical development of men, the body cannot respond to these hormones. This leads to a female body type, even if the genetic sex is male.

Home care for indeterminate genitals

Because of the potential social and psychological consequences of this condition, parents must make a decision about whether, whether to raise a child as a boy or a girl, as soon as possible after diagnosis. The best thing, if this decision is made within the first few days of life. However, this is an important decision., so parents should not rush into it.

When to contact a health care provider if a child has an indeterminate genitalia

Contact your doctor, if you are concerned about the appearance of the child's external genitalia or if you experience any of the following:

• Need more 2 weeks, to regain your birth weight
• Vomiting
• The child looks dehydrated (dry mouth, lack of tears when crying, less 4 wet diapers per day, eyes look sunken)
• Has a reduced appetite
• Has bouts of breath holding (short periods, when a reduced amount of blood enters the lungs)
• Breathing problems

All this may be a sign of congenital adrenal hyperplasia. .

Indeterminate genitalia may be detected during the first examination of the child .

What to Expect When Visiting a Doctor

The health worker will conduct a medical examination, which can reveal the genitals, who are not "typical male" or "typical female", but are somewhere in the middle.

The doctor will ask questions about the medical history, to detect any chromosomal abnormalities. Questions may include:

• Is there a family history of miscarriage?
• Are there any cases of stillbirth in the family?
• Are there any cases of early death in the family?
• Did any of the family members have babies, who died in the first few weeks of life or who had indeterminate genitalia?
• Is there a family history of any disorders, causing undefined genitals?
• What medications did the mother take before or during pregnancy? (especially steroids)?
• What other symptoms are present?

Genetic testing can determine, whether the child is a genetic male or female. Often, a small sample of cells from a child's cheek can be taken for this test.. The study of these cells is often sufficient to determine the genetic sex of an infant.. Chromosomal analysis is a more extensive test, which may be required in more doubtful cases.

To determine the presence or absence of internal genital organs (eg, undescended testicles) may require endoscopy, X-rays of the abdominal cavity, Ultrasound of the abdomen or pelvis and similar tests.

Lab tests can help determine, how well the reproductive organs function. This may include tests for adrenal and gonadal steroids..

In some cases, laparoscopy, exploratory laparotomy or gonadal biopsy may be required to confirm abnormalities, which can cause vague genitalia.

Depending on the cause of the, surgery is used, taking hormones or other treatments to treat conditions, which can cause undefined genitals.

Sometimes parents have to choose, raise a child as a man or a woman (regardless of the child's chromosomes). This choice can have a great social and psychological impact on the child., therefore counseling is most often recommended.

It is often technically easier to handle a child (and, Consequently, educate him) like a girl. This is, that it is easier for a surgeon to make female genitalia, than men's. So sometimes it is recommended, even if the child is genetically male. However, this is a difficult decision.. You should discuss this with your family, doctor, surgeon, child endocrinologist and other medical specialists.

Used sources and literature

King RA, josso n. Diagnosis and treatment of disorders of sexual development. In: Jameson JL, The Great LJ, the Circles DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 119.

White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, St. Geme JW, Bloom NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 594.

White PC. Sexual development and identity. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 220.

Your RN, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Party AW, Dmochowski RR, Kavousi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48.