Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome

American Journal of Medical Genetics

Volumn 129 A, Issue 1, 2004, Pages 1-7

  Cragun, Deborah L ^a   Trumpy, Sharon K ^b   Shackleton, Cedric H L ^c   Kelley, Richard I ^d,e   Leslie, Nancy D ^a,f   Mulrooney, Neil P ^a,f   Hopkin, Robert J ^a,f  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b Bethesda North Perinatal Center   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

^e DEPARTMENT OF PATHOLOGY   (United States)

^f UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

14 demethylase; 17 hydroxylase deficiency; 21 hydroxylase deficiency; Antley Bixler syndrome; Apparent pregnene hydroxylation deficiency; Cholesterol; Cytochrome p450 reductase; Genital ambiguity; Low estriol; Steroidogenesis

Indexed keywords

CYTOCHROME B5; ESTRIOL; HYDROXYPROGESTERONE; PROGESTERONE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE FERRIHEMOPROTEIN REDUCTASE;

ANTLEY BIXLER SYNDROME; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ESTRIOL BLOOD LEVEL; FEMALE; HUMAN; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; STEROIDOGENESIS; STEROL METABOLISM;

RAPHIA FRATER;

EID: 3342950132     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30170     Document Type: Article

References (49)

1. Aleck KA, Bartley DL. 1997. Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient. Am J Med Genet 72:253-256.
2. Antley R, Bixler D. 1975. Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:397-401.
3. Auchus RJ, Lee TC, Miller WL. 1998. Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer. J Biol Chem 273:3158-3165.
4. Bartels I, Caesar J, Sancken U. 1994. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn 14:227-229.
5. Bottero L, Cinalli G, Labrune R, Lajeunie E, Renier D. 1997. Antley-Bixler syndrome. Description of two new cases and a review of the literature. Child Nerv Syst 13:275-280.
6. Bradley L, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. 1999. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 82:355-358.
7. Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. 1988. Low second trimester serum unconjugated oestriol in pregnancies with Down's syndrome. Br J Obstet Gynaecol 95:330-333.
8. Canick JA, Palomaki GE, Osathanondh R. 1990. Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn 10:546-548.
9. Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz EM, Shackleton CH, Reitz RE, Fisher DA. 2002. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/ mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 87:3682-3690.
10. Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. 1998. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet 77:219-224.
11. Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33:508-513.
12. Crossley JA, Aitken DA, Connor JM. 1993. Second-trimester unconjugated oestriol levels in maternal serum from chromosomally abnormal pregnancies using an optimized assay. Prenat Diagn 13:271-280.
13. Feigin E, Udassin R, Seror D, Szold A, Ben Neriah Z, Glick B. 1995. Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. Clin Genet 47:53-55.
14. Geller DH, Auchus RJ, Miller WL. 1999. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. Mol Endocrinol 13:167-175.
15. Giordano SJ, Kaftory A, Steggles AW. 1994. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Hum Genet 93:568-570.
16. Glass IA, Lam RC, Chang T, Roitman LJ, Shackleton CHL. 1998. Steroid sulphatase deficiency is the major cause of extremely low estriol at mid-pregnancy: A urinary steroid assay for discrimination of steroid sulphatase deficiency from other causes. Prenat Diagn 18:789-800.
17. Hegesh E, Hegesh J, Kaftory A. 1986. Congenital methemoglobinemia with a deficiency of cytochrome b5. N Engl J Med 314:757-761.
18. Keeney DS, Waterman MR. 1999. Two novel sites of expression of NADPH cytochrome P450 reductase during murine embryogenesis: Limb mesenchyme and developing olfactory neuroepithelia. Dev Dyn 216:511-517.
19. Kelley RI. 2000. Inborn errors of cholesterol biosynthesis. Adv Pediatr 47:1-53.
20. Kelley RI, Herman GE. 2001. Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet 2:299-341.
21. Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. 2002. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet 110:95-102.
22. Kominami S, Ogawa N, Morimune R, De-Ying H, Takemori S. 1992. The role of cytochrome b5 in adrenal microsomal steroidogenesis. J Steroid Biochem Mol Biol 42:57-64.
23. Kratz LE, Kelley RI. 1999. Prenatal diagnosis of the RSH/Smith-Lemli- Opitz syndrome. Am J Med Genet 82:376-381.
24. Lamb DC, Kaderbhai NN, Venkateswarlu K, Kelly DE, Kelly SL, Kaderbhai MA. 2001. Human sterol 14α-demethylase activity is enhanced by the membrane-bound state of cytochrome b(5). Arch Biochem Biophys 395:78-84.
25. Lee BE, Feinberg M, Abraham JJ, Murthy ARK. 1992. Congenital malformations in an infant born to a woman treated with fluconazole. Pediatr Infec Dis J 11:1062-1064.
26. LeHeup BP, Masutti JP, Droulle P, Tisserand J. 1995. The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies. Eur J Pediatr 154:130-133.
27. Mapes S, Corbin CJ, Tarantal A, Conley A. 1999. The primate adrenal zona reticularis is defined by expression of cytochrome b5, 17α-hydroxylase/ 17,20-lyase cytochrome P450 (P450c17) and NADPH-cytochrome P450 reductase (reductase) but not 3beta-hydroxysteroid dehydrogenase/ delta5-4 isomerase (3beta-HSD). J Clin Endocrinol Metab 84:3382-3385.
28. Miller WL, Auchus RJ. 2000. Role of cytochrome b5 in the 17,20-lyase activity of P450c17. J Clin Endocrinol Metab 85:1346.
29. Ohmori S, Fujiki N, Nakasa H, Nakamura H, Ishii I, Itahashi K, Kitada M. 1998. Steroid hydroxylation by human fetal CYP3A7 and human NADPH-cytochrome P450 reductase coexpressed in insect cells using baculovirus. Res Commun Mol Pathol Pharmacol 100:15-28.
30. Peter M, Partsch CJ, Dorr HG, Sippell WG. 1996. Prenatal diagnosis of congenital adrenal hypoplasia. Horm Res 46:41-45.
31. Pursley TJ, Blomquist IK, Abraham J, Andersen HF, Bartley JA. 1996. Fluconazole-induced congenital anomalies in three infants. Clin Infect Dis 22:336-340.
32. Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Ades L, Sillence D, Kumar D, DeLozier-Blancher C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM. 2000. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 37:26-32.
33. Rehman KS, Carr BR, Rainey WE. 2003. Profiling the steroidogenic pathway in human fetal and adult adrenals. J Soc Gynecol Investig 10:372-380.
34. Roth C, Hinney B, Peter M, Steinberger D, Lakomek M. 2000. Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. Eur J Pediatr 159:189-192.
35. Savoldelli G, Schinzel A. 1982. Prenatal ultrasound detection of humeroradial synostosis in a case of Antley-Bixler syndrome. Prenat Diagn 2:219-223.
36. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C. 1983. Antley-Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus. Am J Med Genet 14:139-147.
37. Shackleton CH. 1993. Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 45:127-140.
38. Shackleton CHL, Malunowicz E. 2003. Apparent pregnene hydroxylation disorder (APHD): Seeking the parentage of an orphan metabolome. Steroids 68:707-717.
39. Shackleton CHL, Roitman E, Kratz L, Kelley R. 2001. Dehydrooestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenatal Diagn 21:207-212.
40. Shackleton CHL, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Berthold H, Cragun DL, Hopkin RJ, Adachi M, Arlt W. 2004. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet (in press).
41. Shozu M, Akasofu K, Harada T, Kubota Y. 1991. A new cause of female pseudohermaphroditism: Placental aromatase deficiency. J Clin Endocr Metab 72:560-566.
42. Suzuki K, Kanda Y, Sugiyama K, Katoh T, Wada Y, Yasui Y. 1987. Antley-Bixler syndrome in a sister and brother. Jpn J Hum Genet 32:247-252.
43. Taylor NF, Shackleton CHL. 1979. Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: A study of nine patients. J Clin Endocr Metab 49:78-86.
44. Tsai FJ, Wu JY, Yang CF, Tsai CH. 2001. Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. Acta Paediatr 90:595-597.
45. Vaidya S, Bostedor R, Kurtz MM, Bergstrom JD, Bansal VS. 1998. Massive production of farnesol-derived dicarboxylic acids in mice treated with the squalene synthase inhibitor zaragozic acid A. Arch Biochem Biophys 355:84-92.
46. Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Canick JA, Haddow JE, Knight GJ, Palomaki GE. 1988. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol 95:334-341.
47. Warmann S, Roth C, Gluer S, Fuchs J. 2000. Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. J Pediatr Surg 35:528-530.
48. Yasui Y, Yamaguchi A, Itoh Y, Ueke T, Sugiyama K, Wada Y. 1983. The first case of the Antley-Bixler syndrome with consanguinity in Japan. Jpn J Hum Genet 28:215-220.
49. Zalel Y, Kedar I, Tepper R, Chen R, Drugan A, Fejgin M, Beyth Y. 1996. Differential diagnosis and management of very low second trimester maternal serum unconjugated estriol levels, with special emphasis on the diagnosis of X-linked ichthyosis. Obstet Gynecol Surv 51:200-203.