作者: Rena A. Harrington , David A. Weinstein , Jennifer L. Miller
DOI: 10.1002/AJMG.A.36405
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摘要: Although mouse models of Prader-Willi syndrome (PWS) suggest that hypoglycemia may be part this syndrome, review the literature shows little evidence it is an issue in humans with PWS. Both adrenal and growth hormone deficiency can seen PWS, both these deficiencies are associated increased risk for hypoglycemia. We reviewed medical records patients PWS at University Florida Program. Children were 2 months to 5 years age. recorded presence, degree, persistence hypoglycemia, age first occurrence, genetic diagnosis, gestational Repeated was determined if individuals had multiple blood glucose (BG) values <50 mg/dl before 1 month old, or BG levels once additional <70 after year Of 95 patient charts reviewed, 12 (12.6%) Six documented <40 mg/dl. Seven their episode within day life. seven individuals, five noted 10 (83% all hypoglycemia). Only two insufficiency. Our study suggests infants predisposed from birth. Additional investigation necessary confirm our findings define cause If presence confirmed, early detection treatment result improved neurocognitive outcomes.