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What Is a Fetus With Hypernephrosis?

Hypernephrosis is an out-dated term for adrenal cortical hyperfunction. Adrenal cortical hyperfunction is characterized by overactive adrenal glands. This can be caused by tumors on the glands or a condition known as Congenital Adrenal Hyperplasia (CAH). Dr. Eugene Alpert, a French physician and Eugenicist, was the first to classify manifestations of this dysfunction in 1910.

  1. Congenital Adrenal Hyperplasia

    • CAH is a group of heritable disorders related to the function of the adrenal glands. This can interfere with the fetal development, particularly the genital development of female fetuses. CAH is inherited via a recessive gene and can therefore be passed by parents who carry it.

    Complications Caused by CAH

    • In females, CAH can cause an overproduction of masculine hormones. In normal female fetuses, male hormones are converted to female hormones. In females with CAH, the enzyme responsible for this process is missing. This can result in pseudohermaphroditism. Furthermore, in both male and female fetuses CAH can result in dangerous electrolyte imbalances.

    Pseudohermaphroditism

    • Pseudohermaphroditism is a condition in which the internal sex organs are normal, but the external genitalia may be ambiguous. In the case of female pseudohermaphroditism (which can result from CAH), the clitoris may be enlarged to look like a penis. Labia majora may also be fused, and vaginal and urethral openings may be compromised.

    Potentially Life Threatening Disorder

    • Aside from outward effects to female genitalia, CAH can cause significant electrolyte imbalances in both males and females. Increased activity of the adrenal glands can result in dangerously low sodium levels (hyponatremia). Severe hyponatremia in newborns can result in seizures or coma. Also associated with CAH are very high levels of potassium (hyperkalemia). Hyperkalemia may result in muscle weakness and potentially irregular heart beat, which can be fatal. Hypotension or low blood pressure is also a possible manifestation of CAH.

    Prenatal Screening

    • Fortunately, doctors can screen for CAH during pregnancy, and the fetus can be treated in utero. Testing is usually done when a sibling has the disorder or family members are known to carry the gene abnormality. There are two main tests that can ascertain the presence of CAH in a fetus: Chorionic villus sampling (CVS) and Amniocentesis. CVS can be done in the latter part of the first trimester (usually 10 to 12 weeks). In CVS, the doctor withdraws a sample of the chorionic villi, which are tiny, hair-like projections that are part of the placenta. The sample is removed through the cervix or the abdominal wall. The biggest advantage of CVS is that it can detect problems earlier than amniocentesis. Amniocentesis is one of the most common screenings used to detect fetal abnormalities. In this procedure, a needle is used to withdraw cells from amniotic fluid. This sample is then sent to a lab to determine the presence of abnormalities. Amniocentesis is not usually performed until the second or third trimester (15 weeks or later).

    Treatment

    • If CAH is diagnosed in the fetus, the mother may be given a corticosteroid drug before giving birth. These drugs can cross the placenta and suppress the fetus's adrenal gland activity. In female fetuses, this may decrease the production of male hormones, allowing the female genitalia to develop normally. Many individuals with CAH continue to take corticosteroids throughout their lives, while others can manage without them. When the disorder is managed appropriately, individuals with CAH can live healthy lives with a normal life expectancy.

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