The use of Bone Health Index standard deviation score (BHI-SDS) in the analysis of cohorts with constitutional delay of growth (CGP), Growth Hormone deficiency (GHD), Turners syndrome (TS) and congenital adrenal hyperplasia (CAH)

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.

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Urinary growth hormone level and insulin-like growth factor-1 standard deviation score (IGF-SDS) can discriminate adult patients with severe growth hormone deficiency

Endocrine Journal ◽

10.1507/endocrj.ej12-0196 ◽

2013 ◽

Vol 60 (3) ◽

pp. 369-373 ◽

Cited By ~ 1

Author(s):

Toshio Hirohata ◽

Nobuhito Saito ◽

Koji Takano ◽

So Yamada ◽

Jae-Hyun Son ◽

...

Keyword(s):

Growth Hormone ◽

Standard Deviation ◽

Growth Factor ◽

Growth Hormone Deficiency ◽

Hormone Level ◽

Standard Deviation Score ◽

Growth Hormone Level ◽

Hormone Deficiency ◽

Deviation Score ◽

Severe Growth

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Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0260 ◽

2018 ◽

Vol 31 (9) ◽

pp. 1019-1022

Author(s):

Jack Sellick ◽

Sarah Aldridge ◽

Matthew Thomas ◽

Tim Cheetham

Keyword(s):

Standard Deviation ◽

Congenital Adrenal Hyperplasia ◽

Standard Deviation Score ◽

Normal Growth ◽

Height Velocity ◽

Adrenal Hyperplasia ◽

Growth Data ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

Abstract Background The dose of hydrocortisone therapy required to maintain normal growth in infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is lower than in later childhood. This reflects the presence of excess non-aromatisable rather than aromatisable androgen but there has been relatively little focus on the role of mineralocorticoid therapy. Methods Growth data of infants with CAH due to 21-hydroxylase deficiency (2008–2016) were reviewed and information regarding hydrocortisone and fludrocortisone regimen was collected. Change in height standard deviation (SD) and height velocity standard deviation score (SDS) were analysed during the first year of life. Results Growth data from 13 children (8 M) were analysed. Height (length) declined from a median of −0.69 SD at 3 months to −1.23 SD at 12 months with a reduction in height velocity SDS from 0.02 between 3 and 6 months to −2.22 between 9 and 12 months (p=0.017) despite a hydrocortisone dose at the lower end of the range as recommended in consensus guidelines. The glucocorticoid activity of hydrocortisone and fludrocortisone was negatively associated with growth velocity (r=−0.55; p=0.049) although renin activity was not suppressed. Conclusions Infants with 21-hydroxylase deficiency can be managed with replacement hydrocortisone. The reasons for this paradigm are now understood although our data confirm that the glucocorticoid activity of fludrocortisone needs to be taken into consideration as well.

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Idiopathic short stature

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1304256v ◽

2013 ◽

Vol 141 (3-4) ◽

pp. 256-261 ◽

Cited By ~ 1

Author(s):

Jovan Vlaski ◽

Dragan Katanic ◽

Jadranka Jovanovic-Privrodski ◽

Ivana Kavecan ◽

Ivana Vorgucin ◽

...

Keyword(s):

Growth Hormone ◽

Standard Deviation ◽

Short Stature ◽

Standard Deviation Score ◽

The Body ◽

Idiopathic Short Stature ◽

Hormone Deficiency ◽

Growth Monitoring ◽

Social Suffering ◽

Deviation Score

Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment), which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients? genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l), without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3) or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

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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

Hormone Research in Paediatrics ◽

10.1159/000448283 ◽

2016 ◽

Vol 86 (2) ◽

pp. 117-125 ◽

Cited By ~ 3

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

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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

Endocrine Practice ◽

10.4158/ep-2019-0518 ◽

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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