ArticleJournal of endocrinological investigation2021
From mini-puberty to pre-puberty: early impairment of the hypothalamus-pituitary-gonadal axis with normal testicular function in children with non-mosaic Klinefelter syndrome.
Article in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Growing up with Klinefelter syndrome: challenges of care in children and adolescents and patients advocacy.Endocrine · 2026Review
- Age-specific Contributions to Height in Boys with Klinefelter Syndrome: Analysis of Growth Using the QEPS Model.Journal of the Endocrine Society · 2026Article
- Article
- Total osteocalcin levels are independently associated with worse testicular function and a higher degree of hypothalamic-pituitary-gonadal axis activation in Klinefelter syndrome.Journal of endocrinological investigation · 2024Article
- From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.The Journal of clinical endocrinology and metabolism · 2024Article
- Anti-Müllerian hormone, testicular descent and cryptorchidism.Frontiers in endocrinology · 2024Review
- Testicular Dysfunction in 47,XXY Boys: When It All Begins. A Semilongitudinal Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Leydig cell metabolic disorder act as a new mechanism affecting for focal spermatogenesis in Klinefelter syndrome patients: a real world cross-sectional study base on the age.Frontiers in endocrinology · 2023Article
- The role of scrotal ultrasonography from infancy to puberty.Andrology · 2021Review
- Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study.Journal of endocrinological investigation · 2021Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
purposeKlinefelter syndrome (KS) is a genetic disorder caused by the presence of an extra X chromosome in males. The aim of this study was to evaluate the hypothalamic-pituitary-gonadal (HPG) axis and the clinical profile of KS boys from mini-puberty to early childhood. PATIENTS AND
methodsIn this retrospective, cross-sectional, population study, 145 KS boys and 97 controls aged 0-11.9 years were recruited. Serum FSH, LH, testosterone (T), Inhibin B (INHB), sex hormone binding globulin (SHBG) and anti-Müllerian hormone (AMH) were determined. Auxological parameters were assessed. To better represent the hormonal and clinical changes that appear in childhood, the entire population was divided into 3 groups: ≤ 6 months (group 1; mini-puberty); > 6 months and ≤ 8 years (group 2; early childhood); > 8 and ≤ 12 years (group 3; mid childhood).
resultsDuring mini-puberty (group 1), FSH and LH were significantly higher in KS infants than controls (p < 0.05), as were INHB and T (respectively p < 0.0001 and p < 0.005). INHB was also significantly higher in KS than controls in group 2 (p < 0.05). AMH appeared higher in KS than in controls in all groups, but the difference was only statistically significant in group 2 (p < 0.05). No significant differences were found in height, weight, testicular volume, and penile length.
conclusionsNo hormonal signs of tubular or interstitial damage were found in KS infants. The presence of higher levels of gonadotropins, INHB and testosterone during mini-puberty and pre-puberty may be interpreted as an alteration of the HPG axis in KS infants.
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