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

2016 ◽  
Vol 86 (2) ◽  
pp. 117-125 ◽  
Author(s):  
Juliane Rothermel ◽  
Nina Lass ◽  
Christina Toschke ◽  
Thomas Reinehr
Keyword(s):  
Growth Hormone ◽  
Standard Deviation ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency ◽  
Progressive Decline ◽  
Idiopathic Growth Hormone Deficiency ◽  
Constitutional Delay

Final height of patients with idiopathic growth hormone deficiency after long-term growth hormone treatment

1989 ◽  
Vol 120 (4) ◽  
pp. 409-415 ◽  
Author(s):  
Itsuro Hibi ◽  
Toshiaki Tanaka ◽  
_ _
Keyword(s):  
Growth Hormone ◽  
Standard Deviation ◽  
Growth Hormone Deficiency ◽  
Final Height ◽  
Standard Deviation Score ◽  
Hormone Deficiency ◽  
Chronological Age ◽  
Deviation Score ◽  
Idiopathic Growth Hormone Deficiency ◽  
Group A

Abstract. One hundred and 8 patients with idiopathic growth hormone deficiency with spontaneous pubertal maturation (group A), were followed until they reached their final height after hGH treatment lasting between 2 and 11.1 (average 5.5) years. Their standard deviation scores of final height averaged 3.3 sd below the population mean, which was significantly lower than 1.1 standard deviation below the mean in 29 GH deficient patients without spontaneous puberty (group B) who were treated with hGH and sex hormones. The presence of gonadal function was found to be unbeneficial for final height. The final height of the patients in both groups was not related to either 1) age at the start of hGH treatment, 2) age at the onset of puberty, or 3) the duration of hGH treatment. It was, however, significantly related to the standard deviation score of height at the start of hGH treatment in both groups and to that of height at the onset of puberty in group A. The findings demonstrated that earlier introduction of hGH treatment resulted in earlier onset of puberty in group A, because the chronological age at the onset of puberty was positively correlated to the chronological age at the start of hGH treatment. It was also confirmed that the later puberty began, the taller the final height in GH deficient patients who had the same degree of standard deviation score of height for chronological age before puberty.

scholarly journals Growth hormone regimens in Australia: analysis of the first 3 years of treatment for idiopathic growth hormone deficiency and idiopathic short stature

2012 ◽  
Vol 77 (1) ◽  
pp. 62-71 ◽  
Author(s):  
Ian P. Hughes ◽  
Mark Harris ◽  
Catherine S. Choong ◽  
Geoff Ambler ◽  
Wayne Cutfield ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Idiopathic Short Stature ◽  
Hormone Deficiency ◽  
Idiopathic Growth Hormone Deficiency

GROWTH-PROMOTING THERAPIES MAY BE USEFUL IN SHORT STATURE PATIENTS WITH NONSPECIFIC SKELETAL ABNORMALITIES CAUSED BY ACAN HETEROZYGOUS MUTATIONS: SIX CHINESE CASES AND LITERATURE REVIEW

2020 ◽  
Vol 26 (11) ◽  
pp. 1255-1268
Author(s):  
Hanting Liang ◽  
Hui Miao ◽  
Hui Pan ◽  
Hongbo Yang ◽  
Fengying Gong ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Standard Deviation ◽  
Literature Review ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Standard Deviation Score ◽  
Hormone Deficiency ◽  
Novel Mutations ◽  
Deviation Score ◽  
Growth Promoting

Objective: There are numerous reasons for short stature, including mutations in osteochondral development genes. ACAN, one such osteochondral development gene in which heterozygous mutations can cause short stature, has attracted attention from researchers in recent years. Therefore, we analyzed six cases of short stature with heterozygous ACAN mutations and performed a literature review. Methods: Clinical information and blood samples from 6 probands and their family members were collected after consent forms were signed. Gene mutations in the probands were detected by whole-exome sequencing. Then, we searched the literature, performed statistical analyses, and summarized the characteristics of all reported cases. Results: We identified six novel mutations in ACAN: c.1411C>T, c.1817C>A, c.1762C>T, c.2266G>C, c.7469G>A, and c.1733-1G>A. In the literature, more than 200 affected individuals have been diagnosed genetically with a similar condition (height standard deviation score [SDS] −3.14 ± 1.15). Among affected individuals receiving growth-promoting treatment, their height before and after treatment was SDS −2.92 ± 1.07 versus SDS −2.14 ± 1.23 ( P<.001). As of July 1, 2019, a total of 57 heterozygous ACAN mutations causing nonsyndromic short stature had been reported, including the six novel mutations found in our study. Approximately half of these mutations can lead to protein truncation. Conclusion: This study used clinical and genetic means to examine the relationship between the ACAN gene and short stature. To some extent, clear diagnosis is difficult, since most of these affected individuals’ characteristics are not prominent. Growth-promoting therapies may be beneficial for increasing the height of affected patients. Abbreviations: AI = aromatase inhibitor; ECM = extracellular matrix; GnRHa = gonadotropin-releasing hormone analogue; IQR = interquartile range; MIM = Mendelian Inheritance in Man; PGHD = partial growth hormone deficiency; rhGH = recombinant human growth hormone; SDS = standard deviation score; SGA = small for gestational age; SGHD = severe growth hormone deficiency

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