PMID- 36891552
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230310
IS  - 2666-7762 (Electronic)
IS  - 2666-7762 (Linking)
VI  - 28
DP  - 2023 May
TI  - Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: 
      a retrospective, population-based study.
PG  - 100598
LID - 10.1016/j.lanepe.2023.100598 [doi]
LID - 100598
AB  - BACKGROUND: 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. METHODS: A nationwide 
      population-based registry study including medical record review. FINDINGS: 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. INTERPRETATION: 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. FUNDING: 
      International Fund of Congenital Adrenal Hyperplasia, Health Research Fund of 
      Central Denmark Region, Aase and Einar Danielsen Fund, and "Fonden til 
      Laegevidenskabens Fremme".
CI  - (c) 2023 The Authors.
FAU - Berglund, Agnethe
AU  - Berglund A
AD  - Department of Clinical Genetics, Aarhus University Hospital, Palle Juul-Jensens 
      Boulevard 99, 8200, Aarhus N, Denmark.
AD  - Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens 
      Boulevard 99, 8200, Aarhus N, Denmark.
AD  - Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 
      99, 8200, Aarhus N, Denmark.
FAU - Ornstrup, Marie J
AU  - Ornstrup MJ
AD  - Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens 
      Boulevard 99, 8200, Aarhus N, Denmark.
AD  - Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 
      Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
FAU - Lind-Holst, Marie
AU  - Lind-Holst M
AD  - Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense 
      University Hospital, Klovervaenget 23C, 5000, Odense C, Denmark.
FAU - Duno, Morten
AU  - Duno M
AD  - Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, 
      Blegdamsvej 9, 2100, Copenhagen O, Denmark.
FAU - Baekvad-Hansen, Marie
AU  - Baekvad-Hansen M
AD  - Danish Center for Neonatal Screening, Department for Congenital Disorders, State 
      Serum Institut, Artillerivej 5, 2300, Copenhagen S, Denmark.
FAU - Juul, Anders
AU  - Juul A
AD  - Department of Growth and Reproduction, Copenhagen University Hospital - 
      Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
AD  - Research Center EDMaRC, Copenhagen University Hospital - Rigshospitalet, 
      Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
AD  - Department of Clinical Medicine, Faculty of Health Sciences, University of 
      Copenhagen, Denmark.
FAU - Borch, Luise
AU  - Borch L
AD  - Department of Pediatrics, Aarhus University Hospital, Palle Juul-Jensens 
      Boulevard 99, 8200, Aarhus N, Denmark.
AD  - Department of Pediatrics and Adolescent Medicine, NIDO, Godstrup Hospital, 
      Hospitalsparken 15, 7400, Herning, Denmark.
FAU - Jorgensen, Niels
AU  - Jorgensen N
AD  - Department of Growth and Reproduction, Copenhagen University Hospital - 
      Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
AD  - Research Center EDMaRC, Copenhagen University Hospital - Rigshospitalet, 
      Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
FAU - Rasmussen, Ase K
AU  - Rasmussen AK
AD  - Department of Endocrinology and Metabolism, Copenhagen University Hospital - 
      Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen O, Denmark.
FAU - Andersen, Marianne
AU  - Andersen M
AD  - Department of Endocrinology, Odense University Hospital, J. B. Winslows Vej 4, 
      5000, Odense C, Denmark.
FAU - Main, Katharina M
AU  - Main KM
AD  - Department of Growth and Reproduction, Copenhagen University Hospital - 
      Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
AD  - Research Center EDMaRC, Copenhagen University Hospital - Rigshospitalet, 
      Blegdamsvej 9, 2100, Copenhagen O, Copenhagen, Denmark.
AD  - Department of Clinical Medicine, Faculty of Health Sciences, University of 
      Copenhagen, Denmark.
FAU - Hansen, Dorte
AU  - Hansen D
AD  - Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense 
      University Hospital, Klovervaenget 23C, 5000, Odense C, Denmark.
FAU - Gravholt, Claus H
AU  - Gravholt CH
AD  - Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens 
      Boulevard 99, 8200, Aarhus N, Denmark.
AD  - Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 
      99, 8200, Aarhus N, Denmark.
AD  - Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 
      Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
LA  - eng
PT  - Journal Article
DEP - 20230228
PL  - England
TA  - Lancet Reg Health Eur
JT  - The Lancet regional health. Europe
JID - 101777707
PMC - PMC9986638
OTO - NOTNLM
OT  - Congenital adrenal hyperplasia
OT  - Diagnosis age
OT  - Epidemiology
OT  - Incidence
OT  - Prevalence
COIS- M Dunoe reports honoria for post graduate lectures in medical genetics. A Juul 
      reports honoria from Novo Nordisk A/S, Ipsen, and Sandoz. KM Main reports grants 
      from the Novo Nordisk Foundation, the Innovation Fund, and the Capital Region 
      Research Fund; Royalties from Gyldendal; Consulting fees from The National Board 
      of Wealth and Welfare, Sweden; lectures for Novo Nordisk A/S; and payment for 
      medical expert testimony for The Ministry of Justice, Department of Civil 
      Affairs. The remaining authors have nothing to disclose.
EDAT- 2023/03/10 06:00
MHDA- 2023/03/10 06:01
PMCR- 2023/02/28
CRDT- 2023/03/09 02:17
PHST- 2022/11/04 00:00 [received]
PHST- 2023/02/06 00:00 [revised]
PHST- 2023/02/06 00:00 [accepted]
PHST- 2023/03/09 02:17 [entrez]
PHST- 2023/03/10 06:00 [pubmed]
PHST- 2023/03/10 06:01 [medline]
PHST- 2023/02/28 00:00 [pmc-release]
AID - S2666-7762(23)00016-9 [pii]
AID - 100598 [pii]
AID - 10.1016/j.lanepe.2023.100598 [doi]
PST - epublish
SO  - Lancet Reg Health Eur. 2023 Feb 28;28:100598. doi: 10.1016/j.lanepe.2023.100598. 
      eCollection 2023 May.