Is the baby a girl, boy or both? The infant with CONGENITAL ADRENAL HYPERPLASIA (CAH) was born with ambiguous genitalia due to in-utero (in the womb) exposure to excess androgens caused by a deficiency of the steroid 21-Hydroxylase. The enzyme, 21-Hydroxylase is critical in
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in the conversion cascade of CHOLESTEROL (an elegant structure) to Aldosterone and Cortisol (Cortisone is essential for life). Aldosterone deficiency caused this infant, soon after she was discharged from the hospital, severe salt wasting, hypovolemia, hyperkalemia and shock. She is well today. Cortisol deficiency in these patients contributes to poor cardiac function and adversely affects others physiologic processes. This infant with CAH has two older brothers with the same enzyme deficiency. I had asked the mother, some years before to seek early prenatal care were she to become pregnant. Dexamethasone is the glucocorticoid of choice because is not inactivated by the placenta and must be given early in the pregnancy. The mother was given DEXAMETHASONE AT 17 weeks. CAH is an autosomal recessive condition and this little girl's parents are both known carriers. To minimize unnecessary dexamethasone treatment in males or unaffected female fetuses, a prompt diagnosis is crucial. If healthcare had not been unavailable to this mother, the appropriate doctor could have prescribed the DEXAMETHASONE knowing that seven of eight pregnancies will need to be treated, without need, to prevent one female with ambiguous genitalia. Dexamethasone and pregnancy, are there side effects to the fetus? Once, I saw how a pregnant lady died on her way to the emergency room because her OB doctor failed to properly treat her asthma (an inflammatory condition) the night before. I have saved many pregnant women with acute bronchial asthma by using DEXAMETHASONE, and I have seen no congenital malformations. This case again illustrates that in early conception, the fetus can be either female or male and the phenotype can be discordant with his chromosomal type. That is, a male fetus, XY, can be born a female if there are certain enzyme defects. This infant with CAH will need for life a mineral-glucocorticoid and Sodium Chloride (NaCl or table salt) supplementation and careful follow up. This infant female (XX) has a uterus, fallopian tube and ovaries. What about surgery or vaginoplasty? What would you do if she were homosexual? Prenatal exposure to androgens "may influence subsequent sex-role behavior." Though most women are heterosexual, the data shows that there is increased probability of this child being homosexual. The surgeon may choose an early surgical path (Vaginoplasty and Clitoral Recession?). He won't know, however, for many years if his decision was wise or not. As can be seen, being gay or straight is not that simple. Gay or straight, though, is NATURE. The fertility rate for patients like this one with CAH is about 60 percent. Without cholesterol, there wouldn't be human life. If you have an elevated cholesterol, LDL, you must reduce your risk factors and know that expensive Lipitor® is not the only option, but we're paying an arm and a leg for its marketing. In terms of "New Drugs," I have always been very cautious. As a result, none of my patients have died from adverse a drug reaction. Annually, 100,000 Americans die due to an adverse drug reaction. On the video, you'll see a man that macerated his penis using chemicals because he was certain his wife had a lover. Human behavior is undoubtedly the most complex area of medicine. Men often confuse the Pearly Papules of the Penis as "warts," especially if they did something they shouldn't have. Children too often share oral secretions and readily infect each other with viruses. In wading pools, children too often share their germs. Recently, a 3-year-old was infected with the Herpangina virus. He had to be hospitalized for a week for hydration and pain control. Pregnancy and some drugs do not mix. You'll see in the video a patient with PHOCOMELIA (defective development of arms and legs, "flipper-like") due to THALIDOMIDE, which the mother took in early pregnancy for morning sickness. CAH can cause stillbirths. At UCLA's Anatomy Department, they have a median section of this stillborn for you to see and photograph, like I did. This is a medical video (not pornography) and is intended to instruct and save lives. In no manner do I encourage you to self-diagnose. If there are omissions or errors, I cannot be responsible. I am constantly reviewing and updating my work. Luis Lomeli MD A clinical image is often worth more than 1000 words.
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