Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

Agnethe Berglund; Marie J. Ornstrup; Marie Lind-Holst; Morten Dunø; Marie Bækvad-Hansen; Anders Juul; Luise Borch; Niels Jørgensen; Åse K. Rasmussen; Marianne Andersen; Katharina M. Main; Dorte Hansen; Claus H. Gravholt

doi:10.1016/j.lanepe.2023.100598

Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

Agnethe Berglund^*, Marie J. Ornstrup, Marie Lind-Holst, Morten Dunø, Marie Bækvad-Hansen, Anders Juul, Luise Borch, Niels Jørgensen, Åse K. Rasmussen, Marianne Andersen, Katharina M. Main, Dorte Hansen, Claus H. Gravholt

^*Corresponding author for this work

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Abstract

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 Lægevidenskabens Fremme”.

Original language	English
Article number	100598
Journal	The Lancet Regional Health - Europe
Volume	28
Number of pages	12
ISSN	2666-7762
DOIs	https://doi.org/10.1016/j.lanepe.2023.100598
Publication status	Published - May 2023

Keywords

Congenital adrenal hyperplasia
Diagnosis age
Epidemiology
Incidence
Prevalence

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Berglund, A., Ornstrup, M. J., Lind-Holst, M., Dunø, M., Bækvad-Hansen, M., Juul, A., Borch, L., Jørgensen, N., Rasmussen, Å. K., Andersen, M., Main, K. M., Hansen, D., & Gravholt, C. H. (2023). Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study. The Lancet Regional Health - Europe, 28, Article 100598. https://doi.org/10.1016/j.lanepe.2023.100598

@article{e9603de4fb7546b6879f4d4fa4362910,

title = "Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study",

abstract = "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 L{\ae}gevidenskabens Fremme”.",

keywords = "Congenital adrenal hyperplasia, Diagnosis age, Epidemiology, Incidence, Prevalence",

author = "Agnethe Berglund and Ornstrup, {Marie J.} and Marie Lind-Holst and Morten Dun{\o} and Marie B{\ae}kvad-Hansen and Anders Juul and Luise Borch and Niels J{\o}rgensen and Rasmussen, {{\AA}se K.} and Marianne Andersen and Main, {Katharina M.} and Dorte Hansen and Gravholt, {Claus H.}",

year = "2023",

month = may,

doi = "10.1016/j.lanepe.2023.100598",

language = "English",

volume = "28",

journal = "The Lancet Regional Health - Europe",

issn = "2666-7762",

publisher = "Elsevier",

}

Berglund, A , Ornstrup, MJ , Lind-Holst, M, Dunø, M, Bækvad-Hansen, M, Juul, A, Borch, L, Jørgensen, N, Rasmussen, ÅK, Andersen, M, Main, KM, Hansen, D & Gravholt, CH 2023, 'Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study', The Lancet Regional Health - Europe, vol. 28, 100598. https://doi.org/10.1016/j.lanepe.2023.100598

Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study. / Berglund, Agnethe ; Ornstrup, Marie J.; Lind-Holst, Marie et al.
In: The Lancet Regional Health - Europe, Vol. 28, 100598, 05.2023.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark

T2 - a retrospective, population-based study

AU - Berglund, Agnethe

AU - Ornstrup, Marie J.

AU - Lind-Holst, Marie

AU - Dunø, Morten

AU - Bækvad-Hansen, Marie

AU - Juul, Anders

AU - Borch, Luise

AU - Jørgensen, Niels

AU - Rasmussen, Åse K.

AU - Andersen, Marianne

AU - Main, Katharina M.

AU - Hansen, Dorte

AU - Gravholt, Claus H.

PY - 2023/5

Y1 - 2023/5

N2 - 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 Lægevidenskabens Fremme”.

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 Lægevidenskabens Fremme”.

KW - Congenital adrenal hyperplasia

KW - Diagnosis age

KW - Epidemiology

KW - Incidence

KW - Prevalence

UR - http://www.scopus.com/inward/record.url?scp=85149254529&partnerID=8YFLogxK

U2 - 10.1016/j.lanepe.2023.100598

DO - 10.1016/j.lanepe.2023.100598

M3 - Journal article

C2 - 36891552

AN - SCOPUS:85149254529

SN - 2666-7762

VL - 28

JO - The Lancet Regional Health - Europe

JF - The Lancet Regional Health - Europe

M1 - 100598

ER -

Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

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Keywords

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