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  • Title: Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.
    Author: Le SQ, Kutteh WH.
    Journal: Obstet Gynecol; 1996 May; 87(5 Pt 2):854-6. PubMed ID: 8677114.
    Abstract:
    BACKGROUND: Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hypoplasia 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 pseudohermaphroditism. 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 revealed severely hypoplastic adrenal glands, inguinal testes, and a vaginal pouch. CONCLUSION: Monosomy 7 and male sexual ambiguity are reported in association with primary adrenal hypoplasia of the cytomegalic (X-linked) type.
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