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Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a hydroxylase deficiency. The classical forms most severe are characterized by a deficiency in cortisol and sometimes in aldosterone, which may compromise the vital prognosis of neonates, and by an increase in androgen synthesis, leading to the virilization of girls' external genitalia at birth, followed by clinical signs of hyperandrogenism during childhood and adolescence.
Neonatal screening has improved management and reduced morbidity and mortality in the neonatal period, but its performance could be broadly optimised by adjusting the assay techniques or the biomarkers used. The genetic diagnosis is difficult owing to the large genetic heterogeneity of the 6p Prenatal diagnosis is now possible as early as 6 weeks of gestation, but prenatal treatment remains controversial, awaiting results from prospective cohorts evaluating its long-term impact.
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Robin G, et al. Gynecol Obstet Fertil. Epub May PMID: Review. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to hydroxylase deficiency. Forest MG. Hum Reprod Update. Med Pregl. Bouvattier C, Chatelain P. Bouvattier C, et al. Rev Prat. PMID: French. Stikkelbroeck MM, et al. Ned Tijdschr Geneeskd. PMID: Dutch. Show more similar articles See all similar articles. Publication types Review Actions.
Child Actions. Diagnosis, Differential Actions. Female Actions. Genetic Testing Actions. Humans Actions. Male Actions. Full-text links [x] Elsevier Science.
Forme classique d’hyperplasie congénitale des surrénales par bloc en 21-hydroxylase
Nous rapportons deux cas chez des jumelles consultant pour une hypertrichose diffuse. La mutation p. Non-classical congenital adrenal hyperplasia NC-CAH is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture.
Translation of "hyperplasie congénitale des surrénales" in English