Berglund Agnethe, Ornstrup Marie J, Lind-Holst Marie, Dunø Morten, Bækvad-Hansen Marie, Juul Anders, Borch Luise, Jørgensen Niels, Rasmussen Åse K, Andersen Marianne, Main Katharina M, Hansen Dorte, Gravholt Claus H
Department of Clinical Genetics, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Lancet Reg Health Eur. 2023 Feb 28;28:100598. doi: 10.1016/j.lanepe.2023.100598. eCollection 2023 May.
The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic trends for all patients with CAH in Denmark.
A nationwide population-based registry study including medical record review.
We identified 462 patients (290 females) with any form of CAH. The prevalence of CAH combined was 15.1 (95% confidence interval [CI]: 12.3-16.1) and 9.0 (CI: 7.6-10.4) per 100,000 newborn females and males. There was a prevalence of salt-wasting (SW), simple-virilizing (SV), and non-classic (NC) CAH due to 21-hydroxylase deficiency of: SW-CAH: 6.4 (CI: 5.3-7.6) and 5.6 (CI: 4.6-6.8); SV-CAH: 2.0 (CI: 1.4-2.8) and 1.6 (CI: 1.0-2.7); and NC-CAH: 5.5 (CI: 4.4-6.9) and 2.5 (CI: 1.7-3.7) per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study. There was a female preponderance for SV-CAH (ratio: 1.8) and NC-CAH (ratio: 3.2). Median age at diagnosis, females and males respectively: SW-CAH: 4 (interquartile range [IQR]: 0-11) and 14 (IQR: 8-24) days, SV-CAH: 3.1 (IQR: 1.2-6.6) and 4.8 (IQR: 3.2-6.9) years, and NC-CAH: 15.5 (IQR: 7.9-22.5) and 9.4 (IQR: 7.2-23.2) years.
The combined prevalence of CAH was 15.1 and 9.0 per 100,000 newborn females and males, respectively. The female preponderance was primarily due to diagnosis of more females than males with NC-CAH.
International Fund of Congenital Adrenal Hyperplasia, Health Research Fund of Central Denmark Region, Aase and Einar Danielsen Fund, and "Fonden til Lægevidenskabens Fremme".
新生儿筛查检测出的先天性肾上腺皮质增生症（CAH）患儿的患病率已有详尽描述，但有关在生命后期确诊患者的数据极为有限。本研究旨在描述丹麦所有CAH患者的诊断趋势。
一项基于全国人口的登记研究，包括病历审查。
我们确定了462例患有任何形式CAH的患者（290例女性）。CAH综合患病率在每10万名新生女性和男性中分别为15.1（95%置信区间[CI]：12.3 - 16.1）和9.0（CI：7.6 - 10.4）。因21 - 羟化酶缺乏导致的失盐型（SW）、单纯男性化型（SV）和非经典型（NC）CAH的患病率分别为：SW - CAH：每10万名新生女性和男性中分别为6.4（CI：5.3 - 7.6）和5.6（CI：4.6 - 6.8）；SV - CAH：2.0（CI：1.4 - 2.8）和1.6（CI：1.0 - 2.7）；NC - CAH：5.5（CI：4.4 - 6.9）和2.5（CI：1.7 - 3.7）。在研究过程中，NC - CAH的诊断显著增加。SV - CAH（比例：1.8）和NC - CAH（比例：3.2）中女性占优势。诊断时的中位年龄，女性和男性分别为：SW - CAH：4天（四分位间距[IQR]：0 - 11）和14天（IQR：8 - 24），SV - CAH：3.1岁（IQR：1.2 - 6.6）和4.8岁（IQR：3.2 - 6.9），NC - CAH：15.5岁（IQR：7.9 - 22.5）和9.4岁（IQR：7.2 - 23.2）。
CAH的综合患病率在每10万名新生女性和男性中分别为15.1和9.0。女性占优势主要是由于确诊的NC - CAH女性多于男性。
先天性肾上腺皮质增生症国际基金、丹麦中部地区卫生研究基金、阿斯和埃纳尔·丹尼尔森基金以及“促进医学发展基金”。
