Search Results - "WITCHEL, S. F"

Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia by Moran, C., Azziz, R., Weintrob, N., Witchel, S. F., Rohmer, V., Dewailly, D., Marcondes, J. A. M., Pugeat, M., Speiser, P. W., Pignatelli, D., Mendonca, B. B., Bachega, T. A. S., Escobar-Morreale, H. F., Carmina, E., Fruzzetti, F., Kelestimur, F.

“…Context: Because many women with 21-hydroxylase (21-OH)-deficient nonclassic adrenal hyperplasia (NCAH) carry at least one allele affected by a severe mutation…”
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The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy by Bonifati, D M, Witchel, S F, Ermani, M, Hoffman, E P, Angelini, C, Pegoraro, E

“…Background: Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are…”
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Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society by Escobar-Morreale, H.F., Carmina, E., Dewailly, D., Gambineri, A., Kelestimur, F., Moghetti, P., Pugeat, M., Qiao, J., Wijeyaratne, C.N., Witchel, S.F., Norman, R.J.

“…BACKGROUND Hirsutism, defined by the presence of excessive terminal hair in androgen-sensitive areas of the female body, is one of the most common disorders in…”
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Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia by Marques, C J, Pignatelli, D, Carvalho, B, Barceló, J, Almeida, A C, Fernandes, S, Witchel, S F, Sousa, M, Oliveira, M J, Freitas, P, Fontoura, M, Carvalho, D, Barros, A, Carvalho, F

“…Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common inherited disorder of adrenal hormone biosynthesis due to mutations…”
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The frequency of CYP 21 gene mutations in Turkish women with hyperandrogenism by Kelestimur, F, Everest, H, Dundar, M, Tanriverdi, F, White, C, Witchel, S F

“…The congenital adrenal hyperplasias (CAH) are a group of autosomal recessive disorders due to decreased activity of the enzymes responsible for cortisol…”
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Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism by TOMBOC, Marlah, LEE, Peter A, MITWALLY, Mohamed F, SCHNECK, Francis X, BELLINGER, Mark, WITCHEL, Selma F

“…Cryptorchidism is a common anomaly of male sexual differentiation. Two phases of testicular descent are recognized, transabdominal and inguinoscrotal. With…”
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Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency by WITCHEL, S. F, LEE, P. A, SUDA-HARTMAN, M, TRUCCO, M, HOFFMAN, E. P

“…21-Hydroxylase deficiency is one of the most common inherited disorders, with carrier frequencies of approximately 10% in all world populations studied to…”
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The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations by Escobar-Morreale, H F, San Millán, J L, Smith, R R, Sancho, J, Witchel, S F

“…To determine the role of heterozygosity for mutations in the 21-hydroxylase gene (CYP21) in the pathogenesis of hyperandrogenism. Controlled clinical study…”
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Molecular genetics and pathophysiology of 17β-hydroxysteroid dehydrogenase 3 deficiency by ANDERSSON, S, GEISSLER, W. M, WITCHEL, S. F, CUTLER, G. B, GRIFFIN, J. E, WILSON, J. D, RUSSELL, D. W, WU, L, DAVIS, D. L, GRUMBACH, M. M, NEW, M. I, SCHWARZ, H. P, BLETHEN, S. L, MENDONCA, B. B, BLOISE, W

“…Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to…”
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The role of heterozygosity for CYP21 in the polycystic ovary syndrome by Witchel, S F, Aston, C E

“…The phenotypic heterogeneity recognized in congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency appears to extend to 21hydroxylase (CYP21)…”
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Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis by Witchel, Selma F., Nayak, Sunil, Suda-Hartman, Makiko, Lee, Peter A.

“…Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (CYP21) were obtained from 15 infants…”
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Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency by WITCHEL, S. F, BHAMIDIPATI, D. K, HOFFMAN, E. P, COHEN, J. B

“…One mutation frequently identified in 21-hydroxylase deficiency is the intron 2 splicing mutation, in which the normal polymorphic C or A at nucleotide 655 has…”
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Treatment of central precocious puberty : Comparison of urinary gonadotropin excretion and gonadotropin-releasing hormone (GnRH) stimulation tests in monitoring GnRH analog therapy by WITCHEL, S. F, BAENS-BAILON, R. G, LEE, P. A

“…GnRH analogs (GnRH-a) have proven to be efficacious and have become the standard treatment for central precocious puberty (CPP). To confirm the diagnosis of…”
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De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR) by Garcia-Heras, J, Martin, J A, Witchel, S F, Scacheri, P

“…We describe an 11 year old girl with a de novo unbalanced t(X;10) that resulted in a deletion of Xq26-->Xqter and a trisomy of 10q21-->10qter. Her clinical…”
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Early metabolic abnormalities in adolescent girls with polycystic ovarian syndrome by Lewy, Vered D., Danadian, Kapriel, Witchel, Selma F., Arslanian, Silva

“…Objective: To investigate insulin sensitivity and secretion in young adolescent girls with childhood onset polycystic ovarian syndrome (PCOS) and to identify…”
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Neuropsychological functioning in girls with premature adrenarche by Tissot, A, Dorn, L D, Rotenstein, D, Rose, S R, Sontag-Padilla, L M, Jillard, C L, Witchel, S F, Berga, S L, Loucks, T L, Beers, S R

“…Contemporary research indicates that brain development occurs during childhood and into early adulthood, particularly in certain regions. A critical question…”
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Ovarian responses to hCG stimulation: insulin resistance/hyperinsulinaemia vs. insulin deficiency by Witchel, Selma F., Arslanian, Silva

“…Polycystic ovary syndrome is a heterogeneous disorder characterized by signs and symptoms of hyperandrogenism and insulin resistance. We present the clinical…”
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Absence of microdeletions in the Y chromosome in patients with a history of cryptorchidism and azoospermia or oligospermia by Fagerli, J, Schneck, F X, Lee, P A, Bellinger, M F, Witchel, S F

“…To determine if cryptorchidism is associated with microdeletions of interval 6 of the Y chromosome, we evaluated this locus in men with a history of…”
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CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency by WITCHEL, S. F, SMITH, R, CRIVELLARO, C. E, DELLA MANNA, T, DICHTCHEKENIAN, V, SETIAN, N, DAMIANI, D

“…Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase…”
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21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study by Moran, Carlos, Azziz, Ricardo, Carmina, Enrico, Dewailly, Didier, Fruzzetti, Franca, Ibañez, Lourdes, Knochenhauer, Eric S., Marcondes, Jose A.M., Mendonca, Berenice B., Pignatelli, Duarte, Pugeat, Michel, Rohmer, Vincent, Speiser, Phyllis W., Witchel, Selma F.

“…Objective: Our aim was to determine whether the clinical features of 21-hydroxylase–deficient nonclassic adrenal hyperplasia are correlated with either age at…”
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