Brener Avivit, Lebenthal Yael, Shtamler Anna, Levy Sigal, Stein Ronnie, Fattal-Valevski Aviva, Sagi Liora
Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv 64239-06, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978-01, Israel.
Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv 64239-06, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978-01, Israel.
Neuromuscul Disord. 2020 Apr;30(4):270-276. doi: 10.1016/j.nmd.2020.02.011. Epub 2020 Feb 24.
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.
首个用于脊髓性肌萎缩症（SMA）患者的治疗方法——诺西那生钠的引入带来了希望，并促使包括儿科内分泌学在内的多专业医疗SMA服务体系的建立。我们的研究旨在全面描述不同程度肌肉减少症的SMA患者的内分泌表现。收集了62例SMA患者（年龄范围3个月至31岁，1型24例，2型21例，3型17例）的实际临床和实验室数据，包括：体重状况、青春期自我报告信息、当前青春期阶段、胰岛素抵抗稳态模型评估（HOMA-IR）、基础促性腺激素和雄激素水平。在SMA队列中，24%（15/62）的患者出现阴毛早现（平均发病年龄3.9±2.8岁）[1型患者中45.9%（11/24），2型患者中19%（4/21）]。在对SMA类型和年龄进行调整后，较高的HOMA-IR可预测阴毛早现（OR=1.42；95%CI，1.05，1.93，P=0.025）。1型男孩中60%和2型男孩中30%存在双侧隐睾；3型年轻男性达到完全青春期。大多数年轻女性青春期发育正常且月经规律，与肥胖程度无关。我们的研究结果表明，孤立性阴毛早现与与肌肉萎缩严重程度相关的早发性胰岛素抵抗有关。
