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Adrenal Cytomegaly is a Frequent Pathologic Finding in Hemoglobin Bart Hydrops Fetalis

Adrenocortical cytomegaly (AC) is a relatively uncommon phenomenon but tends to occur in certain situations, including specific congenital anomalies and hydrops due to maternal-fetal Rhesus incompatibility. Because the pathology in the latter condition does not differ greatly from hemoglobin (Hb) Bart hydrops fetalis, we performed a retrospective review of fetal and perinatal autopsy cases with Hb Bart to determine the prevalence of AC in that condition. Over a 10-year period (2001–2010) at King Chulalongkorn Memorial Hospital, there were 16 hydropic cases confirmed to have Hb Bart. Adrenocortical cytomegaly was found in 13 cases (81%). For comparison, we determined the occurrence of AC in cases of hydrops fetalis not due to Hb Bart (n = 33) and a heterogeneous group of congenital anomalies (n = 34). Adrenocortical cytomegaly was identified in only 1 case of Beckwith-Wiedemann syndrome and 2 cases of anencephaly. Thus, AC is a common finding in cases of Hb Bart, a finding not previously documented. Moreover, our study suggests that Hb Bart is one of the conditions most commonly associated with AC. The reasons for this are not known. The mean Hb levels for the hydrops cases with Hb Bart and those with other forms of anemia showed no significant difference (P = 0.63), nor was there any significant difference in Hb levels between cases of Hb Bart with and without AC. Nonetheless, the consistency of AC in cases of Hb Bart suggests that further study of this particular group of patients might shed light on the pathogenesis of this poorly understood pathologic finding.