Journal ArticleDOI
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
Sebastian Gidlöf,Sebastian Gidlöf,Henrik Falhammar,Henrik Falhammar,Astrid Thilén,Ulrika von Döbeln,Martin Ritzén,Anna Wedell,Anna Wedell,Anna Nordenström,Anna Nordenström +10 more
TLDR
It is suggested that, contrary to current belief, boys and girls with salt-wasting congenital adrenal hyperplasia were equally missed clinically, and neonatal screening improved detection of the salt-Wasting form in girls as well as boys, saving lives in both sexes.About:
This article is published in The Lancet Diabetes & Endocrinology.The article was published on 2013-09-01. It has received 149 citations till now. The article focuses on the topics: Retrospective cohort study & Congenital adrenal hyperplasia.read more
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Journal ArticleDOI
Вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1
TL;DR: In this article, the authors propose a new approach for the detection of thyroid cancer using a blood test, which is based on a combination of immunoglobulin and glucosinoline.
Journal ArticleDOI
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Henrik Falhammar,Henrik Falhammar,Louise Frisén,Angelica Lindén Hirschberg,Angelica Lindén Hirschberg,Christina Norrby,Catarina Almqvist,Catarina Almqvist,Agneta Nordenskjöld,Anna Nordenström,Anna Nordenström +10 more
TL;DR: CAH was associated with excess cardiovascular and metabolic morbidity but the mechanism is not certain as the glucocorticoids were not assessed and Hypothyroidism and obesity may be an effect of close observation.
Journal ArticleDOI
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Henrik Falhammar,Louise Frisén,Christina Norrby,Angelica Lindén Hirschberg,Angelica Lindén Hirschberg,Catarina Almqvist,Agneta Nordenskjöld,Anna Nordenström,Anna Nordenström +8 more
TL;DR: CAH is a potentially lethal condition and was associated with excess mortality due to adrenal crisis and the SW phenotype also seemed to have worse outcome in children and adults due to adrenaline crisis and not only before the introduction of neonatal screening.
Journal ArticleDOI
Congenital Adrenal Hyperplasia
TL;DR: The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management.
Journal ArticleDOI
Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study.
Hedvig Engberg,Agnieszka Butwicka,Agnieszka Butwicka,Anna Nordenström,Anna Nordenström,Angelica Lindén Hirschberg,Angelica Lindén Hirschberg,Henrik Falhammar,Henrik Falhammar,Paul Lichtenstein,Agneta Nordenskjöld,Agneta Nordenskjöld,Louise Frisén,Mikael Landén,Mikael Landén +14 more
TL;DR: Girls and women with CAH have an increased risk of psychiatric disorders in general and substance use disorders in particular compared with unexposed females, with the highest risk among those with the most severe genotype.
References
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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
A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis.
Murray L. Barr,Ewart G. Bertram +1 more
TL;DR: It appears not to be generally known that the sex of a somatic cell as highly differentiated as a neurone may be detected with no more elaborate equipment than a compound microscope following staining of the tissue by the routine Nissl method.
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Lipid nephrotoxicity in chronic progressive glomerular and tubulo-interstitial disease
TL;DR: The hypothesis offers new approaches to the study of chronic progressive kidney disease by proposing a major pathogenetic role for lipid abnormalities, which is mediated by abnormalities of lipid metabolism.
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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.