Background: Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hyproplasia occurs very rarely and is incompatible with life. Male pseudohermaphroditism results from inadequate androgen secretion or inappropriate androgen action. We report a case of monosomy 7, adrenal hypoplasia, and male pseudoher-maphroditism.
Case: An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45, XY, -7. Serum testosterone level was low normal. The infant died on the fourth day of life. Autopsy revealteed severaly hypoplastic adrenal glands, inguinal testes, and a vaginal pouch.
Conclusion: Monosomy 7 and male sexual ambiguity are reported in assocaition with primary adrenal hypoplasia of the cytomegalic (X-linked) type.
(C) 1996 The American College of Obstetricians and Gynecologists