关键词: 威廉姆斯综合征； 快进展； 性早熟； 促性腺激素释放激素类似物

Abstract: Objective To explore the treatment of precocious puberty in girls with Williams syndrome (WBS). Methods The clinical data of rapidly progressive puberty in a girl with WBS were retrospectively analyzed, and the relevant literature was reviewed. Results A 9 years and 5 months old girl was brought to clinic due to breast development for more than one year and menstruation for three times. According to the special facial features, supraaortic stenosis, mental retardation, precocious puberty and medical exon sequencing results, the diagnosis of WBS was confirmed. The child met the diagnostic criteria of rapidly progressive puberty because the bone age of the child was 2 years older than her chronologic age, the uterine length was 37 mm, the endometrium was 5 mm, the bilateral ovaries had several follicles larger than 4 mm, the ovarian volume was 3 - 4 mL, the random level of luteinizing hormone (LH) was 3 . 43 mIU/mL, and the bone age height SDS was - 1 . 92 , and was treated with GnRHa. Reexamination after 1 year of treatment showed that the child’s sex hormones were at prepubertal level, the annual height growth rate was 5 . 3 cm, and the height SDS of bone age was - 1 . 55 . Conclusions Children with WBS may have precocious puberty (rapidly progressive puberty). The application of GnRHa intervention can improve the adult height in children with WBS and relieve the anxiety of parents.

Key words: Williams syndrome; rapid progression; precocious puberty; GnRHa