Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Abstract
This retrospective study examined the pubertal characteristics and growth in patients with 21-hydroxylase deficiency (21-OHD). There were 18 males and 31 females with salt wasting (SW), simple virilizing (SV), or non-classical (NC) 21-OHD. Mean ages at onset of puberty (AOP) in SW, SV, and NC males were 9.2 +/- 1.9, 10.3 +/- 1.1, and 10.7 +/- 0.8 years, respectively; while mean AOP in SW, SV, and NC females were 9.3 +/- 1.7, 8.6 +/- 1.6, and 8.5 +/- 1.3 years, respectively. Mean final height (FH) in SW males (159.6 +/- 7.8 cm) was less than in SV (166.8 +/- 7.5 cm, p = 0.06) and NC (173.4 +/- 6.4 cm, p = 0.005) males. Mean FH in SW females (157.1 +/- 5.5 cm) was similar to SV (156.0 +/- 8.4 cm) but less than NC (161.3 +/- 5.4 cm, p = 0.01) females. In conclusion, while the patients as a group entered puberty earlier than the general population, SW males entered puberty the earliest and had the most compromised FH outcome.
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Most studies describe nearly normal adult height in NC CAH patients.
“However, most studies describe nearly normal adult height in NC CAH patients (417,423-425).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [423]
Cites
Anderson, S. E., & Must, A. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.07.016 · Cited by 249 · see citing works
Merke, D. P., Keil, M. F., Jones, J. V., Fields, J., Hill, S., & Cutler, G. B. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.3.6462 · Cited by 190 · see citing works
Lin-Su, K., Vogiatzi, M. G., Marshall, I., Harbison, M. D., Macapagal, M. C., Betensky, B., Tansil, S., & New, M. I. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2128 · Cited by 111 · see citing works
Self-citationLongitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients
Van der Kamp, H. J. (2002) · Archives of Disease in Childhood · doi:10.1136/adc.87.2.139 · Cited by 104 · see citing works
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Adult Height in Patients with Congenital Adrenal Hyperplasia: A Systematic Review and Metaanalysis
Muthusamy, K., Elamin, M. B., Smushkin, G., Murad, M. H., Lampropulos, J. F., Elamin, K. B., Abu Elnour, N. O., Gallegos-Orozco, J. F., Fatourechi, M. M., Agrwal, N., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2616 · Cited by 182 · see citing works
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone
Lin-Su, K., Harbison, M. D., Lekarev, O., Vogiatzi, M. G., & New, M. I. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-2699 · Cited by 75 · see citing works
Self-citationSteroid 21 hydroxylase deficiency congenital adrenal hyperplasia
Nimkarn, S., Lin-Su, K., & New, M. I. (2009) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2009.08.001 · Cited by 52 · see citing works
Self-citationVölkl, T. M. K., Öhl, L., Rauh, M., Schöfl, C., & Dörr, H. G. (2011) · Hormone Research in Paediatrics · doi:10.1159/000333696 · Cited by 29 · see citing works
Kocova, M., Anastasovska, V., & Falhammar, H. (2020) · Endocrine · doi:10.1007/s12020-020-02323-3 · Cited by 24 · see citing works
- Authors
- Nimkarn, S., New, M. I., & Lin-Su, K.
- Affiliations
- Mount Sinai Hospital (US)
- Venue
- Journal of Pediatric Endocrinology and Metabolism
- Publisher
- Walter de Gruyter GmbH
- Published
- 2007-01
- Volume
- 20
- Issue
- 8
- Pages
- 883-91
- ISSN
- 0334-018X (ISSN-L)
- 2191-0251
- OpenAlex
- W1714775416
- Cited by
- 29
- References
- 4
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 4 · 2020: 1 · 2016: 2 · 2015: 1 · 2013: 4 · 2012: 1
- FWCI
- 0.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Endocrinology and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, puberty onset, growth, adult height, salt wasting, sex differences
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Body Height, Child, Child Development, Child, Preschool, Female, Humans, Infant, Longitudinal Studies, Male, Puberty, Retrospective Studies, Sex Factors, Sexual Maturation, Steroid 21-Hydroxylase, Cohort Studies
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