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Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia

  • Ilja Dubinski ORCID logo , Carola Marzi , Uta Nennstiel , Katharina Schiergens , Heinrich Schmidt and Birgit Odenwald ORCID logo EMAIL logo
Published/Copyright: January 1, 2025
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 2

Abstract

Objectives

Auxology is essential for monitoring congenital adrenal hyperplasia (CAH). Data from prospective studies of newborn screening (NBS) are scarce.

Methods

Analysis of data extracted from a population-based prospective long-term follow-up survey study of children detected through NBS in Bavaria in 1999–2018. The study is based on standardized parent or patient questionnaires, supplemented by medical reports. Height, weight, and treatment data of 146 children/adolescents with classical CAH were analyzed. The entire observation period up to the age of 18 years was completed by 55 patients. Standard Deviation Scores (SDS) for height/body-mass-index (BMI) at different ages and the deviation of the height SDS at age 18 years from the parental target-height SDS were calculated.

Results

Male and female patients with CAH showed different and altered growth patterns, resulting in a median [IQR] SDS deviation from target height of −0.81 [−1.05, −0.41] in males and −0.35 [−0.90, 0.02] in females. BMI-SDS values were significantly (p<0.05) increased in males aged 6–16 years and in females aged 2 and 8–12 years. The average total steroid dose was higher in males (p<0.001). For deviations from target height, significant associations were found with sex (p<0.05) and adherence (p<0.01), but not with mutation group or steroid-dose. For BMI, none of the parameters showed a significant correlation.

Conclusions

Early treatment after NBS has helped to improve, but not to normalize, the development of height and weight in patients with CAH. Optimizing monitoring and treatment, preferably sex-specific, remains a challenge for clinical practice and research.

Keywords: congenital adrenal hyperplasia; newborn screening; growth; final height; body mass index; auxology
Corresponding author: Birgit Odenwald, Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit (LGL), Veterinaerstr. 2, 85764 Oberschleissheim, Germany, E-mail:
Ilja Dubinski and Carola Marzi share first authorship. Heinrich Schmidt and Birgit Odenwald share last authorship.

Acknowledgments

The authors would like to thank all patients and families for their active participation and the physicians and clinical centers as well as the follow-up team for their support. Further, the authors express their gratitude to Dieter Knorr and Hans-Peter Schwarz for their teaching and advancement of CAH care and research, and to Bernhard Liebl for his commitment to establishing the newborn screening programme and long-term follow-up in Bavaria.

  1. Research ethics: The study was approved by the Ethics Committee at the Bavarian Chamber of Physicians (Ethikkommission der Bayerischen Landesaerztekammer) with registration code 10099.

  2. Informed consent: All patients (parents/legal guardians) participating in the study provided written informed consent.

  3. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  4. Author contributions: The study was designed and managed by B.O., U.N., I.D., and H.S. Data preparation and analysis were carried out by C.M. and B.O. The study results were interpreted and discussed by I.D., C.M., K.S., H.S., and B.O. The manuscript was drafted by I.D., C.M., and B.O. All authors have edited and critically reviewed the manuscript. The authors have taken responsibility for the entire content of this submitted manuscript and have approved the final version for submission. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  5. Conflict of interest: The authors have no conflicts of interest to declare.

  6. Research funding: None declared.

  7. Data availability: The data that support the findings of this study are available on request from the corresponding author, BO. The data are not publicly available due to ethical and legal xrestrictions.

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Received: 2024-08-12
Accepted: 2024-12-21
Published Online: 2025-01-01
Published in Print: 2025-02-25

© 2024 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis
  4. Psychological and behavioral assessments in girls with idiopathic central precocious puberty
  5. The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations
  6. Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process
  7. Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years
  8. Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia
  9. Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes
  10. Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes
  11. Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother
  12. Short Communication
  13. Does clonidine stimulate copeptin in children?
  14. Case Report and Review of the Literature
  15. Sialidosis type 1 in a Turkish family: a case report and review of literatures
  16. Case Reports
  17. Central precocious puberty in a toddler with hypothalamic hamartoma
  18. Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation
  19. Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
https://doi.org/10.1515/jpem-2024-0389
Keywords for this article
congenital adrenal hyperplasia; newborn screening; growth; final height; body mass index; auxology

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis
  4. Psychological and behavioral assessments in girls with idiopathic central precocious puberty
  5. The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations
  6. Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process
  7. Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years
  8. Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia
  9. Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes
  10. Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes
  11. Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother
  12. Short Communication
  13. Does clonidine stimulate copeptin in children?
  14. Case Report and Review of the Literature
  15. Sialidosis type 1 in a Turkish family: a case report and review of literatures
  16. Case Reports
  17. Central precocious puberty in a toddler with hypothalamic hamartoma
  18. Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation
  19. Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
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