Literature DB >> 33855677

The way toward adulthood for females with nonclassic congenital adrenal hyperplasia.

Georgia Ntali1, Sokratis Charisis2, Christo F Kylafi2, Evangelia Vogiatzi3, Lina Michala2.   

Abstract

Females with NC21OHD may present as asymptomatic or develop a wide range of androgen excess expression. Clinical manifestations may become evident in childhood and adolescence and include premature pubarche, precocious puberty, acne, hirsutism, and menstrual disorders or present later in life as oligo-ovulation and infertility. Glucocorticoids have been the mainstay of treatment as they regulate excess androgen expression by dampening ACTH activation. Their use requires a careful dose monitoring to avoid overtreatment and subsequently the risk of obesity, type 2 diabetes, dyslipidemia, hypertension, and osteoporosis. Women with NC21OHD need regular follow up throughout their life in order to overcome the physical and psychological burden of hyperandrogenism.

Entities:  

Keywords:  21 Hydroxylase; Androgens; Glucocorticoids; Health; Metabolism; Nonclassical congenital adrenal deficiency

Year:  2021        PMID: 33855677     DOI: 10.1007/s12020-021-02715-z

Source DB:  PubMed          Journal:  Endocrine        ISSN: 1355-008X            Impact factor:   3.633


  86 in total

1.  Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.

Authors:  N Weintrob; C Brautbar; A Pertzelan; Z Josefsberg; Z Dickerman; A Kauschansky; P Lilos; D Peled; M Phillip; S Israel
Journal:  Eur J Endocrinol       Date:  2000-09       Impact factor: 6.664

2.  Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

Authors:  Robert C Wilson; Saroj Nimkarn; Miro Dumic; Jihad Obeid; Maryam Razzaghy Azar; Maryam Azar; Hossein Najmabadi; Fatemeh Saffari; Maria I New
Journal:  Mol Genet Metab       Date:  2007-02-01       Impact factor: 4.797

3.  High frequency of nonclassical steroid 21-hydroxylase deficiency.

Authors:  P W Speiser; B Dupont; P Rubinstein; A Piazza; A Kastelan; M I New
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

4.  Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  C Deneux; V Tardy; A Dib; E Mornet; L Billaud; D Charron; Y Morel; F Kuttenn
Journal:  J Clin Endocrinol Metab       Date:  2001-01       Impact factor: 5.958

Review 5.  Extensive clinical experience: nonclassical 21-hydroxylase deficiency.

Authors:  Maria I New
Journal:  J Clin Endocrinol Metab       Date:  2006-08-15       Impact factor: 5.958

Review 6.  Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

Authors:  Enrico Carmina; Didier Dewailly; Héctor F Escobar-Morreale; Fahrettin Kelestimur; Carlos Moran; Sharon Oberfield; Selma F Witchel; Ricardo Azziz
Journal:  Hum Reprod Update       Date:  2017-09-01       Impact factor: 15.610

7.  Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

Authors:  Maria I New; Moolamannil Abraham; Brian Gonzalez; Miroslav Dumic; Maryam Razzaghy-Azar; David Chitayat; Li Sun; Mone Zaidi; Robert C Wilson; Tony Yuen
Journal:  Proc Natl Acad Sci U S A       Date:  2013-01-28       Impact factor: 11.205

8.  Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

Authors:  Fady Hannah-Shmouni; Rachel Morissette; Ninet Sinaii; Meredith Elman; Toni R Prezant; Wuyan Chen; Ann Pulver; Deborah P Merke
Journal:  Genet Med       Date:  2017-05-25       Impact factor: 8.822

9.  Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.

Authors:  Stefan Riedl; Friedrich-Wilhelm Röhl; Walter Bonfig; Jürgen Brämswig; Annette Richter-Unruh; Susanne Fricke-Otto; Markus Bettendorf; Felix Riepe; Gernot Kriegshäuser; Eckhard Schönau; Gertrud Even; Berthold Hauffa; Helmuth-Günther Dörr; Reinhard W Holl; Klaus Mohnike
Journal:  Endocr Connect       Date:  2019-02-01       Impact factor: 3.335

10.  EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Authors:  Sabina Baumgartner-Parzer; Martina Witsch-Baumgartner; Wolfgang Hoeppner
Journal:  Eur J Hum Genet       Date:  2020-07-02       Impact factor: 4.246

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