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The endocrine manifestations of spinal muscular atrophy, a real-life observational study.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Apr; Vol. 30 (4), pp. 270-276. Date of Electronic Publication: 2020 Feb 24. - Publication Year :
- 2020
-
Abstract
- 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.<br /> (Copyright © 2020 Elsevier B.V. All rights reserved.)
- Subjects :
- Adolescent
Adult
Age of Onset
Child
Child, Preschool
Cross-Sectional Studies
Female
Humans
Infant
Male
Metabolic Syndrome etiology
Muscular Atrophy, Spinal complications
Puberty, Precocious etiology
Sarcopenia etiology
Severity of Illness Index
Young Adult
Insulin Resistance physiology
Metabolic Syndrome metabolism
Muscular Atrophy, Spinal metabolism
Puberty, Precocious metabolism
Sarcopenia metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 30
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 32273202
- Full Text :
- https://doi.org/10.1016/j.nmd.2020.02.011