New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores
Abstract
Aim: Accurate calculations of testicular volume standard deviation (SD) scores are not currently available. We constructed LMS‐smoothed age‐reference charts for testicular volume in healthy boys. Methods: The LMS method was used to calculate reference data, based on testicular volumes from ultrasonography and Prader orchidometer of 769 healthy Dutch boys aged 6 months to 19 years. We also explored the association between testicular growth and pubic hair development, and data were compared to orchidometric testicular volumes from the 1997 Dutch nationwide growth study. Results: The LMS‐smoothed reference charts showed that no revision of the definition of normal onset of male puberty – from nine to 14 years of age – was warranted. In healthy boys, the pubic hair stage SD scores corresponded with testicular volume SD scores (r = 0.394). However, testes were relatively small for pubic hair stage in Klinefelter's syndrome and relatively large in immunoglobulin superfamily member 1 deficiency syndrome. Conclusion: The age‐corrected SD scores for testicular volume will aid in the diagnosis and follow‐up of abnormalities in the timing and progression of male puberty and in research evaluations. The SD scores can be compared with pubic hair SD scores to identify discrepancies between cell functions that result in relative microorchidism or macroorchidism.
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Some female carriers of IGSF1 defects can also manifest central hypothyroidism.
“Some female carriers can also manifest CeH.”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [31]
In IGSF1 defects, central hypothyroidism is associated with abnormal testicular growth leading to adult macroorchidism (+2.0 SDS) but with a tendency towards pubertal delay, low PRL and, rarely, reversible growth hormone deficiency.
“In this condition, CeH is associated with abnormal testicular growth leading to adult macroorchidism (+2.0 SDS) but with a tendency towards pubertal delay, low PRL and, rarely, reversible growth hormone (GH) deficiency [12, 31].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [31]
IGSF1 defects are the molecular cause of a recently described X-linked syndrome including mild to moderate central hypothyroidism.
“Immunoglobulin superfamily member 1 gene ( IGSF1 ) defects are the molecular cause of a recently described Xlinked syndrome including mild to moderate CeH.”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [31]
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“[21] Testicular volume of 12 ml (where a boy gets a growth spurt of puberty)[22] was reached at 14 years of age in our study which was similar to that in the study by Tomova et al.[12] Mean testicular volume at 18 years was smaller in the current study than in studies by Lawal,[18] Dave,[3] Largo,[21] Beres,[20] and T…”
BackgroundResultInfluentialMild deficits in attentional control in patients with the <scp>IGSF</scp>1 deficiency syndrome
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- Authors
- Joustra, S. D., van der Plas, E. M., Goede, J., Oostdijk, W., Delemarre‐van de Waal, H. A., Hack, W. W. M., van Buuren, S., & Wit, J. M.
- Affiliations
- Leiden University Medical Center (NL)
- Department of Pediatrics Medical Centre Alkmaar Alkmaar Netherlands
- Medisch Centrum Alkmaar (NL)
- Department of Pediatrics Leiden University Medical Center Leiden Netherlands
- Netherlands Organisation for Applied Scientific Research TNO Leiden Netherlands
- Corresponding author
- Joustra, Sjoerd D.
- Venue
- Acta Paediatrica
- Publisher
- Wiley
- Published
- 2015-03-11
- Volume
- 104
- Issue
- 6
- Pages
- e271-8
- ISSN
- 0365-1436 (ISSN-L)
- 0803-5253
- 1651-2227
- OpenAlex
- W2163177461
- Cited by
- 75
- References
- 29
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 6 · 2021: 9 · 2020: 7 · 2019: 13 · 2018: 9 · 2017: 8 · 2016: 3 · 2015: 3
- FWCI
- 8.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Acta Paediatrica (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- TNO Repository (submittedVersion)
- Repository hosted by TU Delft Library (TU Delft) (submittedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Surgery › Testicular diseases and treatments
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Keywords
- testicular volume, reference charts, standard deviation scores, testicular ultrasound, Klinefelter syndrome, macroorchidism, children and adolescents
- MeSH terms
- Adolescent, Child, Child, Preschool, Humans, Infant, Male, Netherlands, Organ Size, Reference Values, Testis, Sexual Development, Young Adult, Growth Charts
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