Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Abstract

Background: Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. Methods: We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD. Results: Height standard deviation scores (SDS) did not change between birth and 6 months of life, while height SDS decreased significantly afterwards in GHD, FSS, and CDG. The loss of height SDS was higher in the first 2 years of life than between 2 and 5 years of life in children with CDG (-0.92 vs. -0.11; p = 0.003) or FSS (-0.79 vs. -0.01; p = 0.002). In idiopathic GHD, the loss of height SDS did not differ between the first 2 years of life and the next 3 years (-0.78 vs. -0.77; p = 0.821). Conclusion: Children with FSS and CDG showed a decline in height SDS mainly in the first 2 years of life, whereas the height SDS of children with idiopathic GHD decreased almost continuously over the first 5 years of life.

Characteristic dynamics of height and weight in preschool boys with constitutional delay of growth and puberty or hypogonadotropic hypogonadism

“…normal length in accordance with the literature, 3,4,12 and the majority of their growth retardation started during the first months of life and levelled at the end of 2 years according to a previous study of our research group in children with suspected CDGP. 12 Our data are in agreement with previous studies in children with CDGP reporting that height-SDS loss is already detectable at the age of 5 years. 5,7,26 This characteristic change in height-SDS in the first years of life in CDGP is of importance to differentiate HH and maybe also other diseases with short stature such as GHD, the latter manifesting with a continuous decrease in height-SDS without any levelling.…”

“…While it is accepted that patients with CDGP have a family history of CDGP in up to 75%, there is ongoing discussion when growth failure starts in CDGP. We and other groups have previously demonstrated that children with the tentative diagnosis of CDGP have a reduced height and height velocity already before the age of 5 years . However, in these studies the children had not reached adult height at last observation leaving a doubt whether they really had CDGP.…”

“…5,7,26 This characteristic change in height-SDS in the first years of life in CDGP is of importance to differentiate HH and maybe also other diseases with short stature such as GHD, the latter manifesting with a continuous decrease in height-SDS without any levelling. 1,2,12,13 The difference of growth between CDGP and HH is obviously So far, the exact mechanisms of the growth patterns in children with CDGP have not been understood, while it is clear that genetic factors are involved. 1 Evidence is in favour of a dominant transmission with high penetrance.…”

“…We and other groups have previously demonstrated that children with the tentative diagnosis of CDGP have a reduced height and height velocity already before the age of 5 years. 5,12 However, in these studies the children had not reached adult height at last observation leaving a doubt whether they really had CDGP.…”

A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB

“…Accordingly, we remained wary of initiating GH treatment without clear indication. Patients with Constitutional Growth Delay tend to resume normal height velocities by ages 2–3 and a delayed skeletal age (as estimated by wrist X-ray), commonly 2–4 years behind chronological age ( 7 , 8 ). Our patient demonstrated low height velocity through age 9, and his skeletal age was consistent with chronological age.…”