A Longitudinal Study of Bone Mineral Accrual during Growth in Competitive Premenarcheal Rhythmic Gymnasts

The purpose of this investigation was to study whether prolonged competitive rhythmic gymnastics training influenced bone mineral accrual in premenarcheal girls. Eighty-nine girls (45 rhythmic gymnasts [RG] and 44 untrained controls [UC]) between 7 and 9 years of age were recruited and measured annually for four years (not all participants were measured at every occasion). Dual energy x-ray absorptiometry was used to assess the development of whole body (WB), femoral neck (FN) and lumbar spine (LS) bone mineral content (BMC). In addition, body composition, blood adipokine and jumping performance characteristics were obtained. For longitudinal analyses, hierarchical mixed-effects models were constructed to predict differences in the development of WB, FN and LS BMC between RG and UC groups, while accounting for differences in body composition, blood adipokine and jumping performance values. It appeared that from 8 years of age, RG had lower (p < 0.05) fat mass and leptin values, and higher (p < 0.05) jumping performance measures in comparison with UC girls. Hierarchical mixed-effects models demonstrated that RG had 71.9 ± 12.0, 0.23 ± 0.11 and 1.39 ± 0.42 g more (p < 0.05) WB, FN and LS BMC, respectively, in comparison with UC girls. In addition, WB, FN and LS BMC increased more (p < 0.05) between 7 to 12 years of age in RG girls in comparison with UC. In conclusion, these findings suggest that the prolonged exposure to competitive rhythmic gymnastics trainings in premenarcheal girls is associated with greater bone mineral accrual despite lower body fat mass and leptin values.

Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient

Background: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce. Aim: To report the clinical phenotype and hormonal studies of an aromatase-deficient boy during the prepubertal and early pubertal period. Results: The patient was the older brother of a 46,XX girl with aromatase deficiency. Molecular analysis revealed a previously reported homozygous mutation (Arg192Cys) in the CYP19A1 gene. Pubertal onset was at 9.8 years. At 11.3 years of age, signs of rapidly progressive puberty were seen. Laboratory tests revealed normal pubertal basal and GnRH-stimulated gonadotropin levels, normal Sertoli cell markers, and increased testosterone. The prepubertal lumbar spine bone mineral density (BMD) was normal but pubertal bone mineral accrual was incomplete, leading to osteopenia. Conclusion: Estrogen restraint on gonadotropin secretion has been demonstrated in animal and human models. Interestingly, our patient presented with accelerated puberty and apparently normal pituitary gonadal function. These findings suggest that aromatase activity may be required to define pubertal progression in boys. Estrogen deficiency due to aromatase deficiency is responsible for insufficient bone mineral accrual during puberty.