The introduction of nusinersen, the first therapeutic modality for Spinal Muscular Atrophy (SMA) patients has raised hopes and led to construction of a multi-professional medical SMA service, including pediatric endocrinology. Our study aimed to provide a comprehensive description of the endocrine manifestations of SMA patients with variable degree of sarcopenia. Real-life clinical and laboratory data of 62 SMA patients (age range 3 months to 31 years, 24 type 1, 21 type 2, 17 type 3) were collected including: weight-status, self-reported information on puberty, current pubertal stage, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), basal gonadotropin and androgen levels. Precocious pubarche (mean age at onset 3.9 ± 2.8 years) was found in 24% (15/62) of the SMA cohort [45.9%(11/24) type 1 and 19%(4/21) type 2]. A higher HOMA-IR predicted precocious pubarche after adjustment for SMA type and age (OR=1.42; 95% CI, 1.05, 1.93, P = 0.025). Bilateral cryptorchidism was found in 60% of type 1 and 30% of type 2 boys; type 3 young adult males attained full puberty. Most of the young women had normal pubertal development and regular menses, regardless of degree of obesity. Our findings suggest that isolated precocious pubarche is associated with early-onset insulin resistance linked to severity of muscular atrophy.

中文翻译：

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脊髓性肌萎缩症内分泌表现的真实观察研究

nusinersen 是脊髓性肌萎缩症 (SMA) 患者的第一种治疗方式，它的推出带来了希望，并促成了包括儿科内分泌在内的多专业医疗 SMA 服务的建设。我们的研究旨在全面描述具有不同程度肌肉减少症的 SMA 患者的内分泌表现。收集了 62 名 SMA 患者（年龄范围 3 个月至 31 岁，24 名 1 型、21 名 2 型、17 名 3 型）的真实临床和实验室数据，包括：体重状态、青春期自我报告信息、当前青春期阶段, 胰岛素抵抗 (HOMA-IR)、基础促性腺激素和雄激素水平的稳态模型评估。在 24% (15/62) SMA 队列 [45.9% (11/24) 1 型和 19% (4/21) 2 型] 中发现性早熟（平均发病年龄 3.9 ± 2.8 岁）。调整 SMA 类型和年龄后，较高的 HOMA-IR 预测性早熟（OR = 1.42；95% CI，1.05、1.93，P = 0.025）。60% 的 1 型男孩和 30% 的 2 型男孩发现双侧隐睾；3 型年轻成年男性达到完全青春期。无论肥胖程度如何，大多数年轻女性都具有正常的青春期发育和规律的月经。我们的研究结果表明，孤立的性早熟与与肌肉萎缩严重程度相关的早发性胰岛素抵抗有关。