Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol

B Scherling; H Dige-Petersen; K W Kastrup; N E Skakkebaek; J R Müller

Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol

Translated title of the contribution: Adrenogenital syndrome--diagnosis, treatment and therapeutic control

B Scherling, H Dige-Petersen, K W Kastrup, N E Skakkebaek, J R Müller

Abstract

Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.

Translated title of the contribution	Adrenogenital syndrome--diagnosis, treatment and therapeutic control
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	157
Issue number	16
Pages (from-to)	2306-10
Number of pages	5
ISSN	0041-5782
Publication status	Published - 17 Apr 1995
Externally published	Yes

Cite this

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title = "Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol",

abstract = "Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.",

keywords = "Adrenal Hyperplasia, Congenital/diagnosis, Humans, Prenatal Diagnosis",

author = "B Scherling and H Dige-Petersen and Kastrup, \{K W\} and Skakkebaek, \{N E\} and M{\"u}ller, \{J R\}",

year = "1995",

month = apr,

day = "17",

language = "Dansk",

volume = "157",

pages = "2306--10",

journal = "Ugeskrift for Laeger",

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T1 - Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol

AU - Scherling, B

AU - Dige-Petersen, H

AU - Kastrup, K W

AU - Skakkebaek, N E

AU - Müller, J R

PY - 1995/4/17

Y1 - 1995/4/17

N2 - Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.

AB - Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.

KW - Adrenal Hyperplasia, Congenital/diagnosis

KW - Humans

KW - Prenatal Diagnosis

UR - https://www.scopus.com/pages/publications/0029646745

M3 - Review

C2 - 7652967

SN - 0041-5782

VL - 157

SP - 2306

EP - 2310

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 16

ER -

Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol

Abstract

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