This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Cerame, B. I. Articles by Wilson, R. C. Search for Related Content PubMed PubMed Citation Articles by Cerame, B. I. Articles by Wilson, R. C.

Prenatal Diagnosis and Treatment of 11ß-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Resulting in Normal Female Genitalia¹

Department of Pediatrics, Weill Medical College of Cornell University (B.I.C., R.S.N., S.N., M.I.N., R.C.W.), New York, New York 10021; Fondation Jean Dausset, Centre d’Étude du Polymorphisme Humain (L.P.), 75010 Paris, France; Baker Medical Research Institute (K.M.C.), 8008 Melbourne, Australia; and Childrens Hospital Los Angeles (T.F.R.), Los Angeles, California 90027

Address all correspondence and requests for reprints to: Maria I. New, M.D., Department of Pediatrics, Division of Pediatric Endocrinology, Weill Medical College of Cornell University, 525 East 68th Street, Room M-622, New York, New York 10021. E-mail: minew{at}mail.med

Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11ß-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11ß-hydroxylase deficiency CAH. The family had two girls affected with 11ß-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11ß-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R3941) in the CYP11B1 gene in this family.

This article has been cited by other articles:

				P. Glanc, S. Umranikar, D. Koff, G. Tomlinson, and D. Chitayat Fetal Sex Assignment by Sonographic Evaluation of the Pelvic Organs in the Second and Third Trimesters of Pregnancy J. Ultrasound Med., May 1, 2007; 26(5): 563 - 569. [Abstract] [Full Text] [PDF]

				N. Krone, F. G. Riepe, D. Gotze, E. Korsch, M. Rister, J. Commentz, C.-J. Partsch, J. Grotzinger, M. Peter, and W. G. Sippell Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3724 - 3730. [Abstract] [Full Text] [PDF]

				O. Pinhas-Hamiel, Y. Zalel, E. Smith, R. Mazkereth, A. Aviram, S. Lipitz, and R. Achiron Prenatal Diagnosis of Sex Differentiation Disorders: The Role of Fetal Ultrasound J. Clin. Endocrinol. Metab., October 1, 2002; 87(10): 4547 - 4553. [Abstract] [Full Text] [PDF]

				P. F. Collett-Solberg Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 2 Clinical Pediatrics, March 1, 2001; 40(3): 125 - 132. [Abstract] [PDF]

				P. C. White and P. W. Speiser Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Endocr. Rev., June 1, 2000; 21(3): 245 - 291. [Abstract] [Full Text]

				C G D Brook;, I. HUGHES;, and C. J H KELNAR Antenatal treatment of a mother bearing a fetus with congenital adrenal hyperplasia Arch. Dis. Child. Fetal Neonatal Ed., May 1, 2000; 82(3): 176F - 181. [Full Text]