A mosaic of confusion
Fox, Feb. 23, 8 p.m.
Episode: “The Softer Side.”
Jackson, born with male and female DNA, has been brought up as a boy after his parents opted for surgical repair of his “ambiguous genitalia” shortly after birth. Now 13, he’s recently begun receiving testosterone shots. After he collapses with abdominal pain while playing basketball, his parents urge Dr. Gregory House (Hugh Laurie) to order an MRI of the pelvis to make sure that “a blind uterus” (a uterus without a vaginal opening) isn’t causing the symptoms.
The MRI is negative, as House expects, but Jackson goes on to develop pericardial effusion (fluid around the heart). He then vomits blood and is found to have a damaged stomach; pancreas, kidney and liver failure; and reddened hands. House’s team decides the teenager has the connective-tissue disease scleroderma and begins administering steroids.
But House suspects that the teen’s original collapse -- and subsequent kidney failure -- was caused not by scleroderma, but by severe dehydration and overtaxed kidneys made worse by an excess of energy drinks. The multiple organ failure, he believes, was linked to the MRI contrast media, which caused a scleroderma-like reaction when accompanied by the kidney failure. House continues to treat Jackson with IV fluids and short-term dialysis, and the teen improves dramatically.
The medical questions
Can the genetic abnormality of having male and female DNA lead to a baby with imperfect male and female genitalia? Can a doctor render the child a boy by operating on the penis and giving testosterone shots from puberty? How likely is a blind uterus with this genetic mosaic, and could it cause abdominal symptoms? Are connective tissue diseases like scleroderma associated with this condition? What are the symptoms of scleroderma? Can MRI contrast media cause a scleroderma-like condition?
With a specific mutation of the 46th chromosome that leads to male and female sex chromosomes, it’s possible for a person to be born with both a testis and an ovary, says Dr. Eric Vilain, chief of medical genetics at the David Geffen School of Medicine at UCLA -- but it’s extremely rare. Such a baby could become either male or female, he says, with the penis modified surgically if male is chosen, and testosterone shots administered at puberty. A blind uterus is not generally associated with this condition, Vilain adds. “Typically we talk about a ‘blind vagina,’ which means that there is no uterus. That can happen in XX/XY patients.”
Scleroderma, a disease whose hallmark is a hardening and scarring of the skin and other tissues, has been associated with genetic mosaics (in which an organism has two populations of cells with genetic differences), but not this specific XX/XY mutation. The disease is rare, occurring in 250 out of 1 million people. Systemic scleroderma can involve the heart, kidneys, lungs and GI tract, but in children the disease is generally limited to the skin, says Dr. Bertrand Agus, clinical associate professor of rheumatology at NYU Langone Medical Center.
Further, red hands aren’t a common scleroderma symptom, though they are for Raynaud’s phenomenon. In that condition, the fingers first turn white or bluish in response to abnormal constriction of blood vessels caused by cold or emotions, then take on a red-bluish flush as they rewarm and blood flow is restored.
House is correct that a scleroderma-like syndrome (called nephrogenic systemic fibrosis), which includes a reddening of the extremities, has been reported in kidney-failure patients after gadolinium administration for an MRI scan. The treatment is dialysis, as he says.
Dr. Carlo Briguori, a cardiologist at the Clinica Mediterranea in Naples, Italy, and an expert on the effects of contrast media, says that, in children, they can sometimes lead to rapid fibrosis of the skin as well as damage to multiple organs, including the muscles, lungs and heart.
Dr. Stanley Goldfarb, associate dean and professor of nephrology at the University of Pennsylvania School of Medicine, says that kidney failure, however, would be unlikely, even if a person overindulged to the extreme in energy drinks.
“Power drinks are not likely a major factor, and the child would have to be severely dehydrated to cause kidney injury from low blood pressure before the contrast media would be able to cause NSF,” he says. Goldfarb also describes nephrogenic systemic fibrosis as more chronic than the show depicts. In the real world, “these cases occur over weeks to months,” he says. “And it has not been reported to cause pancreatitis or bleeding from the stomach.”