M I New

Summary

Affiliation: Cornell University
Country: USA

Publications

  1. ncbi Antenatal diagnosis and treatment of congenital adrenal hyperplasia
    M I New
    Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital Weill Medical College of Cornell University, 525 East 68th Street, Room M 622, New York, NY 10021, USA
    Curr Urol Rep 2:11-8. 2001
  2. ncbi Factors determining final height in congenital adrenal hyperplasia
    M I New
    Department of Pediatrics, New York Presbyterian Hospital and the Weill Medical College of Cornell University, NY 10021, USA
    J Pediatr Endocrinol Metab 14:933-7. 2001
  3. ncbi Diagnosis and management of congenital adrenal hyperplasia
    M I New
    New York Hospital Cornell Medical Center, New York 10021, USA
    Annu Rev Med 49:311-28. 1998
  4. pmc Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
    M I New
    Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 96:12790-7. 1999
  5. ncbi Resistance to several steroids in two sisters
    M I New
    Department of Pediatrics, New York Presbyterian Hospital, New York Weill Cornell Center, 10021, USA
    J Clin Endocrinol Metab 84:4454-64. 1999
  6. pmc A genetic defect resulting in mild low-renin hypertension
    R C Wilson
    Pediatric Endocrinology, The New York Hospital Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 95:10200-5. 1998
  7. ncbi Resistance to multiple steroids in two sisters
    M I New
    Department of Pediatrics, Division of Pediatric Endocrinology, The New York Presbyterian Hospital Weill Medical College of Cornell University, 525 East 68th Street, Room M 622, New York, NY, USA
    J Steroid Biochem Mol Biol 76:161-6. 2001
  8. pmc Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
    K M Curnow
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    Proc Natl Acad Sci U S A 90:4552-6. 1993
  9. ncbi Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies
    M I New
    Pediatric Endocrinology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, New York 10021, USA
    J Clin Endocrinol Metab 86:5651-7. 2001
  10. ncbi Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess
    S Dave-Sharma
    Department of Pediatrics, New York Hospital Cornell Medical Center, New York 10021, USA
    J Clin Endocrinol Metab 83:2244-54. 1998

Collaborators

Detail Information

Publications38

  1. ncbi Antenatal diagnosis and treatment of congenital adrenal hyperplasia
    M I New
    Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital Weill Medical College of Cornell University, 525 East 68th Street, Room M 622, New York, NY 10021, USA
    Curr Urol Rep 2:11-8. 2001
    ..Newborn males have normal genitalia. Prenatal treatment of 21-hydroxylase deficiency with dexamethasone has been used for approximately 15 years. An algorithm was developed for prenatal diagnosis and treatment...
  2. ncbi Factors determining final height in congenital adrenal hyperplasia
    M I New
    Department of Pediatrics, New York Presbyterian Hospital and the Weill Medical College of Cornell University, NY 10021, USA
    J Pediatr Endocrinol Metab 14:933-7. 2001
    ....
  3. ncbi Diagnosis and management of congenital adrenal hyperplasia
    M I New
    New York Hospital Cornell Medical Center, New York 10021, USA
    Annu Rev Med 49:311-28. 1998
    ..These advances have important implications for early prenatal diagnosis and prenatal treatment...
  4. pmc Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
    M I New
    Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 96:12790-7. 1999
    ..In 1998, we reported a mild form of this disease, which may represent an important cause of low-renin hypertension...
  5. ncbi Resistance to several steroids in two sisters
    M I New
    Department of Pediatrics, New York Presbyterian Hospital, New York Weill Cornell Center, 10021, USA
    J Clin Endocrinol Metab 84:4454-64. 1999
    ..It is proposed that these patients represent the first cases of partial resistance to multiple steroids, possibly due to a coactivator defect...
  6. pmc A genetic defect resulting in mild low-renin hypertension
    R C Wilson
    Pediatric Endocrinology, The New York Hospital Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 95:10200-5. 1998
    ..Because approximately 40% of patients with essential hypertension demonstrate low renin, we suggest that such patients should undergo genetic analysis of the HSD11B2 gene...
  7. ncbi Resistance to multiple steroids in two sisters
    M I New
    Department of Pediatrics, Division of Pediatric Endocrinology, The New York Presbyterian Hospital Weill Medical College of Cornell University, 525 East 68th Street, Room M 622, New York, NY, USA
    J Steroid Biochem Mol Biol 76:161-6. 2001
    ..It is proposed that these patients represent the first cases of partial resistance to multiple steroids, possibly owing to a coactivator defect...
  8. pmc Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
    K M Curnow
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    Proc Natl Acad Sci U S A 90:4552-6. 1993
    ..This may reflect the location of functionally important amino acid residues within the enzyme or an increased tendency to develop mutations within this region of the gene...
  9. ncbi Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies
    M I New
    Pediatric Endocrinology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, New York 10021, USA
    J Clin Endocrinol Metab 86:5651-7. 2001
    ..This spares the affected female the consequences of genital ambiguity, genital surgery, and possible sex misassignment...
  10. ncbi Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess
    S Dave-Sharma
    Department of Pediatrics, New York Hospital Cornell Medical Center, New York 10021, USA
    J Clin Endocrinol Metab 83:2244-54. 1998
    ..The outcome of treatment in more patients may establish the efficacy of treatment...
  11. ncbi Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
    R Motaghedi
    Department of Pediatrics, The New York Presbyterian Hospital Weill Medical College of Cornell University, USA
    J Pediatr Endocrinol Metab 18:133-42. 2005
    ..In another family, the fetus was a male homozygous for R384Q and treatment was discontinued. Lastly, a novel G444D mutation in exon 8 was identified and proven to reduce 11beta-hydroxylase activity...
  12. pmc Nonsense mutation causing steroid 21-hydroxylase deficiency
    H Globerman
    Division of Pediatric Endocrinology, Cornell University Medical College, New York 10021
    J Clin Invest 82:139-44. 1988
    ..This mutation is also seen in the normal CYP21A pseudogene, so that its presence in the abnormal CYP21B gene may be the result of a gene conversion event...
  13. ncbi The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene
    W Chemaitilly
    Department of Pediatrics, The New York Presbyterian Hospital Weill Medical College of Cornell University, New York, NY, USA
    J Pediatr Endocrinol Metab 18:143-53. 2005
    ..Patient 2, 3 years younger, was diagnosed with salt-wasting CAH and was unable to maintain sodium balance but progressively increased his aldosterone secretion with age...
  14. ncbi Mutations in steroid 21-hydroxylase (CYP21)
    P C White
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, New York 10021
    Hum Mutat 3:373-8. 1994
    ..The degree of enzymatic compromise caused by each mutation is correlated with the clinical severity of the deficiency observed in patients carrying that mutation...
  15. pmc Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
    P C White
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    Proc Natl Acad Sci U S A 85:4436-40. 1988
    ..Thus, gene conversions are rarely confused with deletions as a cause of 21-hydroxylase deficiency...
  16. ncbi Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1
    P W Speiser
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    N Engl J Med 319:19-23. 1988
    ..We conclude that the mutation in codon 281 is a consistent molecular genetic marker for nonclassic 21-hydroxylase deficiency associated with HLA-B14,DR1...
  17. ncbi A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
    M T Tusie-Luna
    Division of Pediatric Endocrinology, Cornell University Medical College, New York 10021
    Mol Endocrinol 5:685-92. 1991
    ..The Pro----Leu mutation was present in 5 of 18 patients with nonclassic 21-hydroxylase deficiency, suggesting that this mutation indeed acts as a nonclassic deficiency allele...
  18. ncbi Apparent mineralocorticoid excess
    R C Wilson
    Pediatric Endocrinology, New York-Presbyterian Hospital and the Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA
    Trends Endocrinol Metab 12:104-11. 2001
    ..In 1998, a mild form of this disease was reported, which might represent an important cause of low-renin hypertension. Early and vigilant treatment might prevent or improve the morbidity and mortality of end-organ damage...
  19. ncbi New findings in apparent mineralocorticoid excess
    J Dimartino-Nardi
    Department of Pediatrics, New York Hospital Cornell Medical Center, NY 10021
    Clin Endocrinol (Oxf) 27:49-62. 1987
    ..These studies suggest that an abnormality in cortisol action or metabolism results in cortisol behaving as a potent mineralocorticoid and causing the syndrome of AME...
  20. pmc Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency
    M Amor
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    Proc Natl Acad Sci U S A 85:1600-4. 1988
    ....
  21. ncbi Clinical and genetic characterization of nonclassic 21-hydroxylase deficiency
    P W Speiser
    Division of Pediatric Endocrinology, New York Hospital Cornell Medical Center, New York 10021
    Endocr Res 15:257-76. 1989
    ..We conclude that the codon 281 mutation is a consistent molecular genetic marker for nonclassic 21-hydroxylase deficiency associated with HLA-B14;DR1...
  22. doi Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene
    O Lekarev
    Department of Pediatric Endocrinology, Adrenal Steroid Disorders Program, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Perinatol 33:76-8. 2013
    ....
  23. ncbi Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
    R C Wilson
    Department of Pediatrics, New York Hospital Cornell Medical Center, New York 10021, USA
    J Clin Endocrinol Metab 80:2322-9. 1995
    ..This study, has demonstrated that the 10 most common mutations observed in the 21-hydroxylase gene result in phenotypes that are not always concordant with the genotype...
  24. ncbi A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
    R C Wilson
    Department of Pediatrics, New York Hospital Cornell Medical Center, New York 10021, USA
    J Clin Endocrinol Metab 80:2263-6. 1995
    ..A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation...
  25. pmc Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    P W Speiser
    Department of Pediatrics, Cornell University Medical College, New York 10021
    J Clin Invest 90:584-95. 1992
    ..These data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21. Accurate prenatal diagnosis should be possible in most cases using the described strategy...
  26. ncbi Prenatal treatment of congenital adrenal hyperplasia. The United States experience
    M I New
    Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, New York, New York, USA
    Endocrinol Metab Clin North Am 30:1-13. 2001
    ..Of the monogenic disorders, steroid 21- and 11 beta-hydroxylase deficiency are two of the few in which prenatal treatment is effective and influences postnatal life...
  27. pmc A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin
    P C White
    Division of Pediatric Endocrinology, Cornell University Medical College, New York 10021
    J Clin Invest 87:1664-7. 1991
    ..This mutation is not normally present in CYP11B2 and thus appears to have arisen in CYP11B1 as a true point mutation rather than a gene conversion...
  28. ncbi Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3 alpha-hydroxysteroid dehydrogenase
    K N Qin
    Department of Pediatrics, Cornell University Medical College, New York, NY 10021
    J Steroid Biochem Mol Biol 46:673-9. 1993
    ..Genomic blot analysis using HAKRb as the probe detected multiple DNA fragments hybridized to the probe and a high degree of restriction fragment length polymorphism, suggesting the complexity of this supergene family...
  29. ncbi Long term outcome in adult males with classic congenital adrenal hyperplasia
    M S Cabrera
    Department of Pediatrics, New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021, USA
    J Clin Endocrinol Metab 86:3070-8. 2001
    ..The presence of adrenal rests within the testes of adult males with classic CAH are more frequent in the salt-wasting form and are associated with a higher risk for infertility...
  30. ncbi Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia
    J B Quintos
    Department of Pediatrics, Division of Pediatric Endocrinology, Weill Medical College of Cornell University-New York Presbyterian Hospital, New York City, New York 10021, USA
    J Clin Endocrinol Metab 86:1511-7. 2001
    ..In patients with CAH and compromised height prediction, treatment with GH or the combination of GH and GnRHa results in an improvement of growth rate and height prediction and a reduction in height deficit for bone age...
  31. ncbi Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen
    I Marshall
    Division of Pediatric Endocrinology, New York Presbyterian Hospital Weill Medical College of Cornell University, New York, New York 10021, USA
    J Clin Endocrinol Metab 88:4144-8. 2003
    ..Therefore, it is essential that physicians be familiar with the various etiologies, perform the appropriate antenatal evaluation to determine the specific cause, and closely monitor both mother and child ante- and postnatally...
  32. ncbi Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry
    M P Wajnrajch
    Department of Pediatrics and Children s Clinical Research Center, New York Presbyterian Hospital Cornell University Medical Center, New York, New York 10021, USA
    Pediatrics 107:744-54. 2001
    ....
  33. ncbi Long-term mifepristone (RU486) therapy resulting in massive benign endometrial hyperplasia
    R S Newfield
    Department of Paediatrics, The New York Hospital--Cornell Medical Center, New York, NY, USA
    Clin Endocrinol (Oxf) 54:399-404. 2001
    ..Therefore, interval pelvic imaging in women who receive long-term mifepristone may be prudent...
  34. pmc Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
    L Pascoe
    Division of Pediatric Endocrinology, Cornell University Medical Center, New York, NY 10021
    Proc Natl Acad Sci U S A 89:8327-31. 1992
    ..These data demonstrate that GSH is caused by expression of a gene that is regulated like CYP11B1 but that encodes a protein able to synthesize aldosterone...
  35. ncbi The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization
    G M Tannin
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, New York 10021
    J Biol Chem 266:16653-8. 1991
    ..HSD11 consists of 6 exons and is at least 9 kilobases long. The data developed in this study should be applicable to the study of patients with hypertension due to apparent mineralocorticoid excess, a deficiency in 11-HSD activity...
  36. pmc DAX1 mutations map to putative structural domains in a deduced three-dimensional model
    Y H Zhang
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 62:855-64. 1998
    ..We conclude that most genetic alterations in DAX1 are frameshift or nonsense mutations and speculate that the codon deletion and missense mutations give insight into the structure and function of DAX1...
  37. ncbi Adrenal 21-hydroxylase cytochrome P-450 genes within the MHC class III region
    P C White
    Immunol Rev 87:123-50. 1985
    ..Thus the 21-OH B gene is normally active in man, but the 21-OH A gene is not...
  38. ncbi The syndrome of apparent mineralocorticoid excess: its association with 11 beta-dehydrogenase and 5 beta-reductase deficiency and some consequences for corticosteroid metabolism
    C Monder
    J Clin Endocrinol Metab 63:550-7. 1986
    ..How the defects in cortisol metabolism and the symptoms of AME are related remains to be determined...