Neonatal Genital Defects (Male And Female Defects)

Abnormalities present in the reproductive organs of the newborn are referred to as genital defects.

  • The exposure of the fetus to abnormally high or low amounts of sex hormones in the womb results in genital defects.
  • Genital ambiguity occurs when the genitals of the newborn cannot be defined as either masculine or feminine.
  • When an infant has ambiguous genitals, the sex is determined by physical examination, followed by blood tests which are done to analyze the chromosomal make-up and the levels of the sex hormones.
  • Once the infant’s gender is determined, hormone therapy, as well as surgery, may be done to normalize the genitalia.

The external genitals, including the testes and penis in male infants, and the clitoris in female infants, may be defective due to exposure of the fetus to abnormal hormone levels during its development. Metabolic disorders such as adrenal hyperplasia (congenital) may result in genital defects. Chromosomal aberrations also cause abnormalities in the development of the infant’s genitalia.

When the genitals of an infant cannot be clearly classified as either masculine, or feminine, it is called intersex state or ambiguous genitals. Majority of infants who have this type of genitals have ambiguity in their external genitalia only. Genetically they may be female or male, not both. They are referred to as pseudo hermaphrodites when their genetic make-up cannot be assigned to either one of the sexes.

The infants who have ambiguous genitals are examined carefully to determine their actual sex. Often blood tests are necessary. Since males have XY pattern and females have XX pattern of chromosomes, the blood test to determine the chromosomal make-up correctly detects the sex of the infants. The blood levels of male sex hormones like testosterone and pituitary hormones may indicate the sex of the infant. The internal genital organs may be examined with an ultrasound scan or x-ray of the pelvic region. The male hormone testosterone may be administered to enlarge the external genitals to make it easier to distinguish between the two sexes.

The infant’s sex must be determined as soon as possible so that it can be considered either female or male. It helps in avoiding bonding issues the infant’s parents may have if the infant is neither a son nor a daughter. The infant may have gender identity disorder on growing up too. The extent of testosterone exposure, and the potential for future sexual function, as well as reproductive ability, is taken into consideration when the gender is assigned to the infant. Other factors which affect the decision are psychological and social issues such as the parent’s preference for a particular sex. Surgical correction of the ambiguous external genital organs can be done later. The cause of pseudo hermaphroditism should be treated as well.

Male Genital Defects

Both the male and the female genitalia develop from the same type of embryonic tissue. The amount of sex hormones present during the prenatal development of the infant helps the tissue to differentiate into either male organs such as penis, penile urethra and scrotum or the female genital structures like labia majora, clitoris, vagina and an independent urethra. If the androgens are absent or very low, female genitalia develop. Ambiguous genitals result when the androgen levels are intermediate. Genetic males with ambiguity may have very small penile organ and undescended testes and this condition is known as cryptorchidism. If ambiguity is in genetic females, the clitoris is enlarged and fused with the labia. In both conditions, the external organs look similar but cannot be assigned to one sex without further testing.

Deficiency of androgens during the development of the fetus in the mother’s womb is responsible for pseudo hermaphroditism of the genetically male infant. It is also referred to as undervirilized 46,XY intersex. The external genitals of the infant resemble female genitalia and the testes may be undescended. Besides the deficiency of androgens or male sex hormones during the prenatal period, poor tissue response to the androgens, as well as exposure to estrogens or female sex hormones, may cause this condition. It may result from chromosomal aberrations too. The testes developing in the male fetus usually start producing androgens once they are ready. If the testes are not properly developed or if they are absent, it results in the deficiency of the male hormones.

Deficiency in androgens during childhood results in retarded physical and sexual development. Poor muscular development and high-pitched voice are symptoms occurring in boys due to androgen deficiency. The sexual organs do not develop well. Secondary sexual characteristics such as hair growth will be less. Abnormally long legs and hands are another characteristic symptom.

Testosterone is administered to treat androgen deficiency. Testosterone injections or skin patches are used for the treatment. These methods are preferred to oral administration of the drug due to reduced side effects. Growth stimulation, fertility and normal sexual development can be achieved through testosterone therapy.

Female Genital Defects

The exposure of the female fetus to excessive amounts of male hormones results in female pseudohermaphroditism, which is otherwise known as virilization. It is also refer to as overvirilized 46,XX intersex. The enlargement of the adrenal glands, known as congenital adrenal hyperplasia, is the usual reason for the excessive secretion of the androgens or the male hormones. Sometimes, due to the lack of an enzyme, the normal conversion of the male hormones into female hormones cannot take place. Occasionally, excess male hormones reach the fetus from the mother through the placenta. This may happen if the mother is taking progesterone to avoid miscarriage. This drug may get converted by the fetus into the male hormone testosterone. Rarely, a tumor in the mother may be secreting excess male hormones

When the infant is a pseudo hermaphrodite, the internal sexual organs are feminine but the external genital organs resemble that of the male due to the enlargement of clitoris which appears like a small-sized penis. Once the infant’s feminine sexual status is confirmed, the external genitals are surgically modified to look like female organs. The clitoris is reduced and the urinary outlet urethra is repaired. Depending on the condition of the vagina, it is either constructed, or repaired, by a procedure known as vaginoplasty.

If congenital adrenal hyperplasia is present, corticosteroid therapy should be initiated as soon as possible as it is a potentially fatal condition causing electrolyte imbalance in the body. Blood tests are done to detect this condition.

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Yasser Elnahas

MD, PHD, Professor Of CardioVascular Surgery
Dr. Yasser Elnahas, Is an associate Professor of Cardiovascular Surgery. Dr. Elnahas was trained as a fellow At Texas Heart Institute And Mayo Clinic Foundation.Dr. Elnahas is dedicated to educating the general public about different disease conditions and simplifying the medical knowledge in an easy to understand terminology.

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