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Abstract：
OBJECTIVE: During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of gonadal function. Here, we analysed these markers in adolescents with various underlying endocrine diseases at the time of transition.
METHODS: After reaching near adult height and late puberty (girls: bone age [BA] ≥14 years, and boys: BA ≥16 years), we assessed stages of puberty according to Tanner and measured testes or ovarian volumes and serum markers of gonadal function (anti-Mullerian hormone [AMH], inhibin B, 17β-estradiol, testosterone).
RESULTS: One hundred and ten patients (56 females and 54 males) were included from May 2010 to March 2016 with multiple pituitary hormone deficiency (MPHD; n = 17), growth hormone deficiency (GHD; n = 35), Turner syndrome (TS; n = 27), short stature after being born small for gestational age (SGA; n = 20) and Klinefelter syndrome (KS; n = 11). Female and male adolescents exhibited mature secondary sexual characteristics. The levels of serum inhibin B and AMH were lower in TS and female MPHD than in GHD and SGA, each independently (p < 0.05). The levels of serum AMH were higher whereas serum inhibin B were lower in male MPHD and KS (p < 0.05). Ovary volumes were significantly smaller in patients with TS, and testicular volumes were smaller in patients with KS.
CONCLUSIONS: After current established treatments with sex steroids, the development of secondary sexual characteristics was mature. However, impaired markers of fertility have been identified in patients with TS, KS and MPHD, reflecting gonadal dysgenesis in TS and KS, but gonadal immaturity in MPHD as gonadal gonadotropin stimulation is lacking throughout development. Consequently, in patients with MPHD, these markers cannot reliably predict individual fertility, which warrants consideration and incorporation in future treatment concepts.
METHODS: After reaching near adult height and late puberty (girls: bone age [BA] ≥14 years, and boys: BA ≥16 years), we assessed stages of puberty according to Tanner and measured testes or ovarian volumes and serum markers of gonadal function (anti-Mullerian hormone [AMH], inhibin B, 17β-estradiol, testosterone).
RESULTS: One hundred and ten patients (56 females and 54 males) were included from May 2010 to March 2016 with multiple pituitary hormone deficiency (MPHD; n = 17), growth hormone deficiency (GHD; n = 35), Turner syndrome (TS; n = 27), short stature after being born small for gestational age (SGA; n = 20) and Klinefelter syndrome (KS; n = 11). Female and male adolescents exhibited mature secondary sexual characteristics. The levels of serum inhibin B and AMH were lower in TS and female MPHD than in GHD and SGA, each independently (p < 0.05). The levels of serum AMH were higher whereas serum inhibin B were lower in male MPHD and KS (p < 0.05). Ovary volumes were significantly smaller in patients with TS, and testicular volumes were smaller in patients with KS.
CONCLUSIONS: After current established treatments with sex steroids, the development of secondary sexual characteristics was mature. However, impaired markers of fertility have been identified in patients with TS, KS and MPHD, reflecting gonadal dysgenesis in TS and KS, but gonadal immaturity in MPHD as gonadal gonadotropin stimulation is lacking throughout development. Consequently, in patients with MPHD, these markers cannot reliably predict individual fertility, which warrants consideration and incorporation in future treatment concepts.
摘要：
目的：在从儿科保健过渡到成人保健的过程中，有关生育的咨询是一个重要问题，主要基于性腺功能的血清标志物。这里,我们分析了过渡时患有各种潜在内分泌疾病的青少年的这些标志物。
方法：达到接近成人身高和青春期后期（女孩：骨龄[BA]≥14岁，和男孩：BA≥16岁），我们根据Tanner评估青春期阶段，并测量睾丸或卵巢体积以及性腺功能的血清标志物（抗苗勒管激素[AMH]，抑制素B,17β-雌二醇，睾丸激素)。
结果：纳入2010年5月至2016年3月患有多发性垂体激素缺乏症（MPHD；n=17）的110例患者（女性56例，男性54例），生长激素缺乏症（GHD；n=35），特纳综合征（TS；n=27），出生小于胎龄（SGA；n=20）和Klinefelter综合征（KS；n=11）后身材矮小。男女青少年表现出成熟的第二性征。TS和女性MPHD的血清抑制素B和AMH水平低于GHD和SGA，每个独立（p<0.05）。男性MPHD和KS的血清AMH水平较高，而血清抑制素B水平较低（p<0.05）。TS患者的卵巢体积明显较小，KS患者的睾丸体积较小。
结论：在目前建立的性类固醇治疗后，第二性征发育成熟。然而,已经在TS患者中发现了受损的生育能力标志物，KS和MPHD，反映了TS和KS的性腺发育不全，但在MPHD中作为性腺促性腺激素刺激的性腺不成熟在整个发育过程中是缺乏的。因此,在MPHD患者中，这些标记不能可靠地预测个体生育率，值得考虑并纳入未来的治疗概念。
方法：达到接近成人身高和青春期后期（女孩：骨龄[BA]≥14岁，和男孩：BA≥16岁），我们根据Tanner评估青春期阶段，并测量睾丸或卵巢体积以及性腺功能的血清标志物（抗苗勒管激素[AMH]，抑制素B,17β-雌二醇，睾丸激素)。
结果：纳入2010年5月至2016年3月患有多发性垂体激素缺乏症（MPHD；n=17）的110例患者（女性56例，男性54例），生长激素缺乏症（GHD；n=35），特纳综合征（TS；n=27），出生小于胎龄（SGA；n=20）和Klinefelter综合征（KS；n=11）后身材矮小。男女青少年表现出成熟的第二性征。TS和女性MPHD的血清抑制素B和AMH水平低于GHD和SGA，每个独立（p<0.05）。男性MPHD和KS的血清AMH水平较高，而血清抑制素B水平较低（p<0.05）。TS患者的卵巢体积明显较小，KS患者的睾丸体积较小。
结论：在目前建立的性类固醇治疗后，第二性征发育成熟。然而,已经在TS患者中发现了受损的生育能力标志物，KS和MPHD，反映了TS和KS的性腺发育不全，但在MPHD中作为性腺促性腺激素刺激的性腺不成熟在整个发育过程中是缺乏的。因此,在MPHD患者中，这些标记不能可靠地预测个体生育率，值得考虑并纳入未来的治疗概念。
