Vandewalle Sara, Van Caenegem Eva, Craen Margarita, Taes Youri, Kaufman Jean-Marc, T'Sjoen Guy
Department of Endocrinology, Ghent University Hospital, De Pintelaan 185 6K12IE, 9000 Ghent, Belgium, Phone: +32 9 332 34 13, Fax: +32 9 332 38 17.
Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, Ghent, Belgium.
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):361-367. doi: 10.1515/jpem-2017-0126.
Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism.
A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years. Low dose testosterone substitution (testosterone esters 25 mg/2 weeks) was initiated in the affected twin based on the start of pubertal development in the healthy twin and then gradually increased accordingly. Both boys were followed until age 18 and were compared as regards to linear growth, sexual maturation, bone maturation and bone development. Before puberty induction both boys had a similar weight and height. During puberty, a slightly faster weight and height gain was observed in the affected twin. Both boys ended up however, with a similar and normal (near) adult height and weight and experienced a normal development of secondary sex characteristics. At the age of 17 and 18 years, bone mineral density, body composition and volumetric bone parameters at the forearm and calf were evaluated in both boys. The affected boy had a higher lean mass and muscle cross-sectional area. The bone mineral density at the lumbar spine and whole body was similar. Trabecular and cortical volumetric bone parameters were comparable. At one cortical site (proximal radius), however, the affected twin had a smaller periosteal and endosteal circumference with a thicker cortex.
In conclusion, a low dose testosterone substitution in bilateral anorchia led to a normal onset of pubertal development and (near) adult height. Furthermore, there was no difference in bone mineral density at the age of 17 and 18 years.
性类固醇对于性成熟、线性生长和骨骼发育至关重要。然而，对于性腺功能减退儿童，睾酮治疗诱导青春期发育并实现正常成人身高和骨量的最佳时机、剂量和给药间隔尚无共识。
一对单卵单绒毛膜男性双胞胎，其中一个男孩因睾丸退化综合征在出生时被诊断为无睾症，从3岁到18岁进行了随访。根据健康双胞胎青春期发育的开始情况，对受影响的双胞胎开始低剂量睾酮替代治疗（睾酮酯25mg/2周），然后相应地逐渐增加剂量。对两个男孩随访至18岁，并比较他们的线性生长、性成熟、骨骼成熟和骨骼发育情况。在青春期诱导前，两个男孩的体重和身高相似。在青春期，受影响的双胞胎体重和身高增长略快。然而，两个男孩最终的成人身高和体重相似且正常（接近正常），并经历了第二性征的正常发育。在17岁和18岁时，对两个男孩的前臂和小腿的骨矿物质密度、身体成分和体积骨参数进行了评估。受影响的男孩有更高的瘦体重和肌肉横截面积。腰椎和全身的骨矿物质密度相似。小梁和皮质体积骨参数相当。然而，在一个皮质部位（桡骨近端），受影响的双胞胎骨膜和内膜周长较小，皮质较厚。
总之，双侧无睾症患者采用低剂量睾酮替代治疗可使青春期发育正常启动并达到（接近）成人身高。此外，17岁和18岁时骨矿物质密度无差异。
