Researchers in Brazil recently published a paper in JCEM Case Reports, detailing a 22-year-old man who developed am acute adrenal crisis following bitalteral orchiectomy for testicular tumors.
The authors, of the paper, “Acute adrenal crisis after orchiectomy for testicular adrenal rest tumors in untreated congenital adrenal hyperplasia,” point out that this patient had untreated congenital adrenal hyperplasia (CAH); he had survived until adulthood without treatment “until progressive testicular masses led to surgery due to misinterpretation of malignancy” — testicular adrenal rest tumors (TARTs), a well-recognized CAH complication, composed of vestigial adrenal cells within the testes.
The urological surgeons noted that the patient had first noticed the masses three years prior, and after a physical examination, the patient underwent a bilateral radical orchiectomy was performed, with no immediate perioperative complications. “The patient was discharged on the following day,” the authors write. “Prior to surgery, sperm cryopreservation was performed.”
But 18 days after surgery the patient was admitted with severe asthenia, nausea, vomiting, and dehydration, the authors write. An endocrinology specialist was brought in, who on physical examination of the patient noted short stature and hyperpigmented macules on the lips. Glucocorticoid replacement treatment was transitioned to oral prednisolone; the patient was discharged. And eight days later, the patient was readmitted with symptomatic hyponatremia, the doctors write.
The researchers go on to write that the patient was not screened for CAH at birth, and that a review of medical records from a separate institution show the patient had been evaluated by pediatric endocrinology at age three for macrogenitosomia. Medical history indicates an early-in-life misdiagnosis and intolerance of the subsequent medication, which led to a loss of follow-up for nearly 20 years, the authors write.
“During this period, he reported no salt-craving behavior or hospitalizations suggestive of previous adrenal crises,” the authors write. “Family history includes a brother with precocious puberty and short stature whose diagnosis of CAH was only confirmed recently. Notably, scrotal ultrasonography did not reveal TARTs in the brother. A sister died at [two] months of age of an undetermined cause.”
A CT scan demonstrated diffuse bilateral adrenal hyperplasia, which the authors write had not been identified in preoperative imaging. Adrenal laboratory testing performed 25 days after revealed a markedly elevated serum 17-hydroxyprogesterone and androstenedione. “Genetic testing identified a homozygous c.293-13 C > G [I2G] pathogenic variant in the CYP21A2 gene, confirming CAH due to 21-hydroxylase deficiency,” the authors write.
The authors again note that TARTs are a well-recognized complication of CAH, and their development has been linked to inadequate glucocorticoid treatment. Patients with TARTs exhibit markers of poor hormone control, including reduced height and advanced bone age. “Nevertheless, TARTs can also occur in patients with adequate hormonal control, underscoring the need for regular screening in all male patients with CAH, beginning in late childhood or early adolescence, regardless of biochemical status,” the authors write. “…in any case of bilateral testicular tumors, TART must be considered in the differential diagnosis, raising immediate clinical suspicion of previously undiagnosed or untreated CAH.”
