Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.
Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.
Method: 13 months old male patients admitted to pediatric endocrinology. He was born to unrelated healthy parents. When he was 8 months old, he was diagnosed PWS His anthropometric measurements were shown in table 1. Thyroid function tests, IGF1, IGFBP3 levels were normal. When he was 19 months old, a decrease in height percentile was observed. Height percentile was greater than 3 percentile. GH secretion abnormalities were evaluated by a 4-hour sleep profile.
Results: GH peak levels (<15 ng/dl) and numbers (<3 times 5 ng/dl) were low; mean density was low (<3.5 ng/dl).
|Anthropometrics||13 months||19 months|
|Weight (kg)||11.5 (7590p)||12 (2550p)|
|Height (cm)||77.7 (50p)||81.5 (2550p)|
|Body mass index (kg/m2)||19.16||18.07|
|Bone Age (months)||15||18|
|IGF-1 (ng/ml)||74.4 (0,1 SDS)||255 (2.3, 3 SDS)|
|IGFBP3 (ng/ml)||4933 (>3 SDS)||2963 (1.28, 2 SDS)|
Conclusion: 90% of etiology of pathological short stature in PWS cases is due to GH deficiency. Cases with NSD, as in our case in younger ages, are very rare. NSD may be a prodromal stage before evident GH deficiency develops in PWS cases. There isnt any consensus about treatment in this stage. In fact, there are a few opinions such as early GH treatment may normalize body fat composition and may help reaching target height. This case is represented to discuss the early GH treatment in PWS cases diagnosed with NSD in younger ages.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology