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Phyllis W. Speiser
Researcher at Hofstra University
Publications - 127
Citations - 11914
Phyllis W. Speiser is an academic researcher from Hofstra University. The author has contributed to research in topics: Congenital adrenal hyperplasia & Mutation. The author has an hindex of 42, co-authored 120 publications receiving 11295 citations. Previous affiliations of Phyllis W. Speiser include North Shore University Hospital & The Feinstein Institute for Medical Research.
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Journal ArticleDOI
Congenital adrenal hyperplasia
TL;DR: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex as mentioned in this paper.
Journal ArticleDOI
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
TL;DR: Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females with severe, classic 21-hydroxylase deficiency to minimize genital virilization, reducing mortality from this condition.
Journal ArticleDOI
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser,Ricardo Azziz,Laurence S. Baskin,Lucia Ghizzoni,Terry W. Hensle,Deborah P. Merke,Heino F. L. Meyer-Bahlburg,Walter L. Miller,Victor M. Montori,Sharon E. Oberfield,Martin Ritzén,Perrin C. White +11 more
TL;DR: Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
Journal ArticleDOI
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phyllis W. Speiser,Jakob Dupont,Deguang Zhu,Jorge Serrat,Miriam Buegeleisen,María Teresa Tusié-Luna,Martin Lesser,Maria I. New,Perrin C. White +8 more
TL;DR: The data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21, which should be possible in most cases using the described strategy.
Journal Article
High frequency of nonclassical steroid 21-hydroxylase deficiency.
TL;DR: In this article, the authors used HLA-B genotype data in families containing multiple members affected with nonclassical 21-hydroxylase deficiency together with the results of quantitative hormonal tests to arrive at estimates of gene and disease frequencies for this disorder.