Abstract
Inability to convert cholesterol to pregnenolone causes lipoid CAH, the most severe form of CAH. We now report the prenatal diagnosis of lipoid CAH in a previously evaluated Korean family (JCI 88:1955, 1991). Steroidal responses to ACTH stimulation in both obligatory heterozygous parents were indistinguishable from normal data (JCEM 73:679, 1991). In two pregnancies after diagnosis of the affected proband one male fetus was diagnosed ultrasonographically as unaffected and confirmed postnatally by endocrine testing, and a second XY male fetus lacked sonographically detectable genitalia. Amniotic fluid steroids were low but not absent (Table). The fetus was aborted at 18 weeks. The fetal adrenals were of normal size but contained lipoid droplets; the testes were histologically normal.
In summary: these data indicate that prenatal diagnosis of lipoid CAH can be made readily, and that maternally derived steroids (particularly Prog) play an essential role in carrying such pregnancies to term.
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Klonari, Z., Miller, W., Fleischer, A. et al. PRENATAL DIAGNOSIS OF CONGENITAL LIPOID ADRENAL HYPERPLASIA (LIPOID CAH). Pediatr Res 33 (Suppl 5), S23 (1993). https://doi.org/10.1203/00006450-199305001-00119
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DOI: https://doi.org/10.1203/00006450-199305001-00119