Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, 211 Eonjuro, Seodaemun-gu, Seoul, South Korea.
Eur J Pediatr. 2021 Feb;180(2):425-432. doi: 10.1007/s00431-020-03804-3. Epub 2020 Sep 10.
We retrospectively reviewed the data of 140 female pediatric patients with rare mitochondrial diseases (MDs) confirmed using muscle biopsy. We evaluated patients who were diagnosed with central precocious puberty (PP) with early pubertal development to determine whether PP is a clinical manifestation of MDs. We also examined the clinical, auxiological, laboratory, and radiological parameters after 1 year of gonadotropin-releasing hormone treatment for central PP. Among the 140 girls with MDs, 29 had early pubertal development and underwent endocrine evaluation. Ten (7.1%) patients were diagnosed with central PP; the prevalence of central PP was higher than was that previously thought. Patients with central PP exhibited bone age advancement over 1 year and increased sex hormone levels despite their young age at diagnosis. Serum estradiol levels were significantly higher in younger patients than in older patients (P = 0.004). Patients with central PP treated with gonadotropin-releasing hormone had favorable outcomes, and their pubertal development was suppressed for 1 year.Conclusion: Central PP may be a manifestation of endocrine dysfunction in young girls with MDs. What is Known: • The general characteristics of mitochondrial diseases include developmental delays and retarded growth. • Precocious puberty has rarely been suggested as a clinical manifestation of mitochondrial diseases. What is New: • Among the 140 girls with mitochondrial diseases, 10 (7.1%) were diagnosed with central precocious puberty. • Serum estradiol levels were significantly higher in younger patients than in older patients.
我们回顾性分析了 140 例经肌肉活检证实的罕见儿童线粒体疾病（MD）女性患者的资料。我们评估了诊断为中枢性性早熟（CPP）的有早期青春期发育的患者，以确定 CPP 是否为 MD 的临床表现。我们还检查了 1 年后接受促性腺激素释放激素治疗 CPP 的患者的临床、生长、实验室和影像学参数。在 140 例 MD 女孩中，29 例有早期青春期发育并接受了内分泌评估。10 例（7.1%）患者被诊断为 CPP；CPP 的患病率高于之前认为的。CPP 患者的骨龄在 1 年内进展，尽管诊断时年龄较小，但性激素水平升高。年轻患者的血清雌二醇水平明显高于年长患者（P = 0.004）。接受促性腺激素释放激素治疗的 CPP 患者有良好的转归，其青春期发育在 1 年内得到抑制。结论：CPP 可能是 MD 年轻女孩内分泌功能障碍的表现。已知情况：·线粒体疾病的一般特征包括发育迟缓、生长迟缓。·性早熟很少被认为是线粒体疾病的临床表现。新发现：·在 140 例患有线粒体疾病的女孩中，10 例（7.1%）被诊断为中枢性性早熟。·年轻患者的血清雌二醇水平明显高于年长患者。
