Growth curves in untreated Ullrich-Turner syndrome: French reference standards 1-22 years

Sempé, M.; Bondallaz, C. Hansson; Limoni, Costanzo

doi:10.1007/s004310050504

Cited by 3 publications

(3 citation statements)

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“…Although our growth data generally are consistent with those, some important differences exist. Whereas the Northern Europeans and others have concluded that girls with TS are born quite small (–1.0 to –1.4 SD below the mean) [6, 10, 16, 22, 23, 24], our data suggest that the growth retardation at birth is relatively mild (–0.68 SD). A portion of the difference can be explained by our exclusion of premature infants (gestational age ≤37 weeks).…”

Section: Discussioncontrasting

confidence: 92%

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

et al. 2002

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The goals of this study were to test the hypothesis that girls with Turner syndrome (TS) experience growth failure early in life and to establish model-based normative growth charts for 0- to 8-year-old American girls with TS. Full-term girls with TS who had 5 or more measurements of height obtained during their first 10 years of life prior to initiation of growth hormone, estrogen and/or androgen therapy were eligible for this study. A nonlinear mixed-effects model comprising the first two components of the infancy-childhood-puberty (ICP) model of growth was fitted to the longitudinal height measurements and compared with those of healthy American girls. Height measurements (n = 1,146) from 112 girls with TS (45,X: 57.1%; 45,X/46,XX: 12.5%; 46,X, iso(X): 4.5%, and other: 25.9%) were analyzed. Mean height SDS fell from –0.68 at birth to –1.60 at 1 year, –1.80 at 2 years and –1.95 at 3 years. When compared to controls (676 girls, 4,537 measurements), girls with TS grew more slowly due to three principal factors: a slow growth rate of the infancy component, a slow growth rate at the onset of the childhood component, and delayed onset of the childhood component. Traditional concepts of growth failure in TS should be revised. Physicians should consider the diagnosis of TS in any girl with unexplained failure to thrive or short stature, even in the first 3 years of life.

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Section: Discussioncontrasting

confidence: 92%

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

et al. 2002

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“…Growth patterns of girls with TS are different from those in normal populations mainly because of the short stature homeobox‐containing gene on the X chromosome (SHOX) haploinsufficiency and their ovarian insufficiency. TS‐specific growth curves have been published in various countries 4–11 including Japan, 12 and they have been clinically used for the evaluation of stature and growth. Those of the Japanese were constructed with data from subjects whose body measurements were obtained by sending questionnaires to their follow‐up hospitals.…”

Section: Introductionmentioning

confidence: 99%

New reference growth charts for Japanese girls with Turner syndrome

Isojima

Yokoya

Itô

et al. 2009

Pediatrics International

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“…Standing heights were converted into SDS, according to the French population standards for age and gender [25]. Growth retardation was defined as a standing height equal or below -2 SDS for age and gender.…”

Section: Methodsmentioning

confidence: 99%

Genotype-Phenotype Relationship in Patients and Relatives with <b><i>SHOX</i></b> Region Anomalies in the French Population

Auger¹,

Baptiste

Benabbad

et al. 2016

Horm Res Paediatr

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Background: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. Methods: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis. Results: Among 205 index cases and 100 related cases, 91.3% had LWD. For index cases, median age at evaluation was 11.7 (9.0; 15.9) years and mean height standard deviation score was -2.3 ± 1.1. A deletion of either SHOX or PAR1 or both was found in 74% of patients. Duplications and point mutations/indels affected 8 and 18% of the population, respectively. Genotype-phenotype correlation showed that deletions were more frequently associated with Madelung deformity and mesomelic shortening in girls, as well as with presence of radiologic anomalies, than duplications. Conclusions: Our results highlight genotype-phenotype relationships in the French population with a SHOX defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions.

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Growth curves in untreated Ullrich-Turner syndrome: French reference standards 1-22 years

Abstract: Reference curves for untreated Ullrich-Turner syndrome are provided, which should form a basis for assessing the impact of growth-promoting treatment in this disorder.

Cited by 3 publications

References 0 publications

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

New reference growth charts for Japanese girls with Turner syndrome

Genotype-Phenotype Relationship in Patients and Relatives with <b><i>SHOX</i></b> Region Anomalies in the French Population

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