An update to 21-hydroxylase deficient congenital adrenal hyperplasia

Trakakis, Eftihios; Basios, George; Trompoukis, Pantelis; Labos, G.; Grammatikakis, Ioannis; Kassanos, D

doi:10.1080/09513590903015494

Cited by 11 publications

(14 citation statements)

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“…> 3 mm)? If it is assumed that each of these four conditions on average occurs 100 times more frequently in such fetuses than in pregnancies with NTs less that 3 mm, then this initial series would have detected approximately five cases of DiGeorge [based on prevalence of 1 in 2000 livebirths (Shprintzen, 2008)]; one case of CAH [based on prevalence of 1 in 10 000 livebirths (Trakakis et al , 2010)]; one case of spinal muscle atrophy [based on a prevalence of 1 in 10 000 (Committee on Genetics, 2009)]; but no cases of Smith‐Lemli‐Opitz [based on a carrier rate of 1 in 100 (Nowaczyk et al , 2006, Table 1)]; as well as the four to ten cases of Noonan syndrome [based on prevalence of 1 in 1000–2500 livebirths (Tartaglia et al , 2010)]. Although this study comprises a relatively small number of pregnancies with increased NT thickness and normal chromosomes, the failure to detect any pregnancies affected by four of the five conditions suggests that the association of these conditions with increased NT is likely to be less than 1 in 100, thereby questioning the utility of their application on a population‐wide basis.…”

Section: Discussionmentioning

confidence: 99%

Genetic assessment following increased nuchal translucency and normal karyotype

et al. 2011

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Objective The objective of this study was to assess the first formal approach for monitoring genetic/developmental syndromes associated with the presence of an increased nuchal translucency (NT) thickness (>3 mm) in the first trimester of pregnancy.Methods Multiple technologies-a DNA chip using the APEX technology, qPCR, microfluidic PCR, and sequencing-were applied to assay 310 mutations across five conditions-Noonan syndrome, congenital adrenal hyperplasia, spinal muscular atrophy (SMA), DiGeorge syndrome, and Smith-Lemli Opitz syndrome. ResultsWe report the results of assessing the first 120 patients in which 8 cases of Noonan syndrome were detected as well as an unusually high rate of heterozygosity for SMA. ConclusionWhile testing for Noonan syndrome in association with increased NT appears warranted, the reported association of the remaining four genetic syndromes is likely to be weak and possibly insignificant.

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Section: Discussionmentioning

confidence: 99%

Genetic assessment following increased nuchal translucency and normal karyotype

et al. 2011

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“…The major mechanism by which the active gene acquires defects is via transfer of segments from the pseudogene to the active gene. [12,13] Disease severity and phenotype are determined by the degree of deficit in 21-OH activity, which is dictated by the least severe CYP21A2 mutation and type of mutation on the allele determining clinical manifestation [5,6].…”

Section: Cah Due To 21-hydroxylase (21-oh) (Cyp21a2) Deficiencymentioning

confidence: 99%

Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature

Ellenbogen¹

2014

Reprod Syst Sex Disord

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Congenital Adrenal Hyperplasia (CAH) -a complex and heterogeneous group of conditions is inherited as Autosomal Recessive (AR) disorders. The resultant deficiencies in one of the five enzymes involved in adrenal steroidogenesis lead to defects in the steroidogenic pathways and biosynthesis of cortisol, aldosterone and androgens. Precursor steroids proximal to the blocked step accumulate and can be shunted into other metabolic pathways, particularly that of androgen biosynthesis.CAH due to 21-Hydroxylase deficiency is traditionally separated into two clinical groups: the Classical form (C-CAH), which is further separated into salt-wasting (75%) and simple-virilizing (25%) phenotypes, and the Nonclassical form (NC-CAH). They are differentiated by their hormonal profile, predominant clinical features and age of appearance.CAH can affect fertility in females due to inadequate introitus, oligomenorrhea and elevated progesterone levels. Many authors reported an effect on male fertility as well.This editorial describes a case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject.

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“…The negative feedback mechanism leads to an increased production of the precursor steroids during the androgen pathway (2). Androgen exposition leads to ambiguous genitalia at birth in females (3) precocious pseudo-puberty in both the sexes (4), premature epiphyseal closure combined with short stature in adulthood (5), testicular adrenal rest tumours in males and infertility in females (6). Careful monitoring of the therapy is crucial for patients with CAH in order to prevent the effects of increased androgen production and life-threatening salt-wasting crisis, especially in cases of infections or surgeries.…”

Section: Introductionmentioning

confidence: 99%

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

Wieacker

Peter

Borucki

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Careful monitoring of the therapy is crucial for patients with congenital adrenal hyperplasia (CAH) in order to prevent the effects of increased androgen production as well as life-threatening salt-wasting crisis. The key metabolite, 17α-hydroxyprogesterone (17-OHP) can be detected in serum, saliva or dried blood. In clinical practice there are challenges due to discomfort of venous blood sampling and complicated retrieval of saliva during infancy. Furthermore, the immunoassay method is limited in its specificity due to cross-reactions. In this observational study we prospectively examined over a period of 5 years, 20 patients with CAH due to 21-hydroxylase deficiency using standard immunoassays for serum samples (radioimmunoassay and enzyme immunoassay) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spots. Bland-Altman plots show goodness of agreement between both the methods for the desirable therapeutic concentration range of 17-OHP. LC-MS/MS is characterized by a high accuracy in the therapeutic concentration range of 17-OHP <100 nmol/L (r=0.91). Dried blood samples are convenient and reliable specimen for 17-OHP measured by LC-MS/MS. This method could be used for home monitoring of hydrocortisone replacement therapy both in salt-waster and simple virilizer CAH.

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An update to 21-hydroxylase deficient congenital adrenal hyperplasia

Cited by 11 publications

References 0 publications

Genetic assessment following increased nuchal translucency and normal karyotype

Genetic assessment following increased nuchal translucency and normal karyotype

Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

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