M Spaziani1, S Granato2, N Liberati3, F M Rossi2, N Tahani2, C Pozza2, D Gianfrilli2, G Papi2, A Anzuini2, A Lenzi2, L Tarani3, A F Radicioni2. 1. Department of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Sapienza University of Rome, Level-1, Room 33, Policlinico Umberto I, 00161, Rome, Italy. matteo.spaziani@uniroma1.it. 2. Department of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Sapienza University of Rome, Level-1, Room 33, Policlinico Umberto I, 00161, Rome, Italy. 3. Department of Pediatrics, Sapienza University of Rome, 00161, Rome, Italy.
Abstract
PURPOSE: Klinefelter 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 METHODS: In 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). RESULTS: During 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. CONCLUSIONS: No 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.
PURPOSE: Klinefelter 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 METHODS: In 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). RESULTS: During 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. CONCLUSIONS: No 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.
Authors: A F Radicioni; E De Marco; D Gianfrilli; S Granato; L Gandini; A M Isidori; A Lenzi Journal: Mol Hum Reprod Date: 2010-04-14 Impact factor: 4.025
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Authors: Andrea Salzano; Roberta D'Assante; Liam M Heaney; Federica Monaco; Giuseppe Rengo; Pietro Valente; Daniela Pasquali; Eduardo Bossone; Daniele Gianfrilli; Andrea Lenzi; Antonio Cittadini; Alberto M Marra; Raffaele Napoli Journal: Endocrine Date: 2018-03-23 Impact factor: 3.633
Authors: A E Calogero; V A Giagulli; L M Mongioì; V Triggiani; A F Radicioni; E A Jannini; D Pasquali Journal: J Endocrinol Invest Date: 2017-03-03 Impact factor: 4.256
Authors: M Spaziani; C Tarantino; C Pozza; A Anzuini; F Panimolle; G Papi; D Gianfrilli; A Lenzi; A F Radicioni Journal: J Endocrinol Invest Date: 2020-10-24 Impact factor: 4.256