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2007•Hormone Research in PaediatricsRequires access

Prenatal and Neonatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

Phyllis Speiser

Open publisher page 28 citations

Abstract

BACKGROUND: Clinical management of patients with congenital adrenal hyperplasia (CAH) involves treating hormonal deficiencies, addressing issues related to genital ambiguity, avoiding morbidities and communicating with the family about risk of CAH in other members. This article briefly reviews the prenatal and neonatal diagnosis of CAH caused by steroid 21-hydroxylase deficiency, as well as treatment options and neonatal screening approaches. CONCLUSIONS: Screening for CAH can reduce adrenal crises, avoid incorrect sex assignments, lower mortality (especially in males) and avoid inappropriate somatic growth and precocious puberty.

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What this paper is about

BACKGROUND: Clinical management of patients with congenital adrenal hyperplasia (CAH) involves treating hormonal deficiencies, addressing issues related to genital ambiguity, avoiding morbidities and communicating with the family about risk of CAH in other members. This article briefly reviews the prenatal and neonatal diagnosis of CAH caused by steroid 21-hydroxylase deficiency, as well as treatment options and neonatal screening approaches. CONCLUSIONS: Screening for CAH can reduce adrenal crises, avoid incorrect sex assignments, lower mortality (especially in males) and avoid inappropriate somatic growth and precocious puberty.

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Available abstract

BACKGROUND: Clinical management of patients with congenital adrenal hyperplasia (CAH) involves treating hormonal deficiencies, addressing issues related to genital ambiguity, avoiding morbidities and communicating with the family about risk of CAH in other members. This article briefly reviews the prenatal and neonatal diagnosis of CAH caused by steroid 21-hydroxylase deficiency, as well as treatment options and neonatal screening approaches. CONCLUSIONS: Screening for CAH can reduce adrenal crises, avoid incorrect sex assignments, lower mortality (especially in males) and avoid inappropriate somatic growth and precocious puberty.

Key concepts: Congenital adrenal hyperplasia, Medicine, Prenatal diagnosis, Pediatrics, Sex organ, Newborn screening, Pregnancy, Fetus

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